Details of Disease

General Information of Disease (ID: DISMBNXP)

Disease Name Intellectual disability
Synonyms mental retardation; intellectual disability; intellectual disabilities
Definition
A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.
Disease Hierarchy
DISWIXAA: Developmental disorder of mental health
DISMBNXP: Intellectual disability
Disease Identifiers
MONDO ID
MONDO_0001071
MESH ID
D008607
UMLS CUI
C3714756
MedGen ID
811461
HPO ID
HP:0001249
Orphanet ID
319658
SNOMED CT ID
110359009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 871 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UBA6 OTJIUMDG Limited Autosomal dominant [1]
UBQLN1 OTZASU27 Limited Autosomal dominant [1]
UBR7 OTHFD7J1 Limited Autosomal recessive [1]
VPS35 OT9FYHRX Limited Autosomal recessive [1]
VPS4A OT1CZDZU Limited Autosomal dominant [1]
WDR13 OTN9I31Z Limited X-linked [1]
ZC3H14 OTX6U72I Limited Autosomal recessive [2]
ZCCHC8 OTO8ZEY5 Limited Autosomal recessive [1]
ZMYM3 OTMPRZ4P Limited X-linked [1]
ZMYM6 OTB4D7LQ Limited Autosomal dominant [1]
ZNF407 OT0SAIE9 Limited Autosomal dominant [1]
ZNF674 OTP3A2A8 Disputed X-linked [1]
TUSC3 OTE1V2P2 Definitive Autosomal recessive [2]
ACBD6 OTF3XXNI Limited Autosomal recessive [1]
ACIN1 OTK81F92 Limited Biomarker [4]
ACOT9 OTBOQE6N Limited Biomarker [4]
ACTL6A OT0EC5BQ Limited Autosomal dominant [265]
ADGRG6 OTY2UBXO Limited Autosomal recessive [1]
ADNP OTEGICWR Limited Genetic Variation [266]
ANO6 OTTA5KQJ Limited Biomarker [267]
AQP2 OTQLBKK6 Limited Genetic Variation [129]
AQP4 OTA9MYD5 Limited Autosomal dominant [1]
ARHGAP1 OT0H2ZBZ Limited Genetic Variation [268]
ARHGAP11A OTVQCFVP Limited Genetic Variation [14]
ARHGAP26 OTNGQU7A Limited Biomarker [269]
ARHGAP4 OTXV053R Limited X-linked [1]
ARHGEF6 OTN1ABGL Limited Biomarker [270]
ARHGEF9 OTB1FLIW Limited Genetic Variation [271]
ARL13B OT9PYPV1 Limited Biomarker [272]
ARPP21 OTWXZN5I Limited Genetic Variation [273]
ASCC3 OTF6DCYB Limited Autosomal recessive [1]
ASL OTI2NGQR Limited Genetic Variation [274]
ASPM OTKXQMNA Limited Genetic Variation [275]
ASTN2 OTF0W2FJ Limited Autosomal dominant [1]
ATP6AP2 OT0IABVV Limited Biomarker [276]
AURKA OTMX0HYT Limited Autosomal dominant [1]
AUTS2 OTAEXHSC Limited Genetic Variation [277]
B3GALNT2 OTOF6O2B Limited Autosomal recessive [1]
BAMBI OTCEJ8W5 Limited Genetic Variation [278]
BAZ1A OTWHOVZS Limited Genetic Variation [279]
BFAR OTTBG0V7 Limited Genetic Variation [280]
BOD1 OTQL6F4R Limited Autosomal recessive [1]
CACNA1C OT6KFNMS Limited Autosomal dominant [1]
CACNA1G OTGKBRE4 Limited Autosomal recessive [1]
CAMK2A OTJGX19T Limited Biomarker [281]
CAPS2 OT45M743 Limited Autosomal recessive [1]
CASK OT8EF7ZF Limited Genetic Variation [282]
CAV3 OTWSFDB4 Limited Genetic Variation [283]
CC2D1A OTVPU04K Limited Genetic Variation [284]
CCL4L2 OTDBSXOU Limited Altered Expression [285]
CDCA5 OTZLCQ5U Limited Genetic Variation [42]
CDK16 OTUBXIIT Limited Biomarker [286]
CDK2AP2 OTR99SJ8 Limited Biomarker [287]
CDK5RAP2 OTRKEVTY Limited Biomarker [288]
CDKL3 OTJ0TQ9T Limited Genetic Variation [289]
CEP89 OT1VEFSL Limited Autosomal dominant [1]
CHAF1B OTOMK4KH Limited Autosomal recessive [1]
CHMP1B OTP715L8 Limited Genetic Variation [290]
CHMP2B OTZA7RJB Limited Genetic Variation [291]
CLASP2 OT5YX0YB Limited Biomarker [273]
CLDN14 OTS7GKOI Limited Genetic Variation [292]
CLIP1 OTTGAEJE Limited Autosomal recessive [1]
CMAS OTFQJG3C Limited Autosomal recessive [1]
CNKSR1 OTSNAEQ9 Limited Autosomal recessive [1]
CNOT3 OT4D5Z9L Limited Genetic Variation [293]
CNTNAP2 OT48T2ZP Limited Genetic Variation [294]
COL4A5 OTHG60RE Limited Biomarker [245]
CSH1 OT33HTRR Limited Biomarker [295]
CSH2 OTW8JVAN Limited Biomarker [295]
CSMD3 OTAT75SW Limited Biomarker [296]
CTBP1 OTVYH2DH Limited Biomarker [297]
CUL4B OT2QX4DO Limited Genetic Variation [298]
CXCL17 OTRCEVIZ Limited Biomarker [299]
CYFIP1 OTOBEH24 Limited Genetic Variation [300]
CYTB OTAHB98A Limited Genetic Variation [301]
DBN1 OTZVKG8A Limited Biomarker [302]
DBX2 OT2OBSP0 Limited Biomarker [267]
DCAF17 OTFNVJLN Limited Biomarker [44]
DIPK2B OT6MK0VT Limited Biomarker [303]
DLD OT378CU9 Limited Biomarker [304]
DLX1 OT7BH057 Limited Biomarker [44]
DLX2 OTKC2DQ0 Limited Biomarker [44]
DSCAM OTL7PRMK Limited Altered Expression [305]
DYNC1H1 OTD1KRKO Limited Genetic Variation [306]
EDC3 OTYS7O69 Limited Genetic Variation [307]
EDIL3 OTDVVNS0 Limited Genetic Variation [308]
EFNB2 OT0DCUOM Limited Genetic Variation [309]
EIF3H OT61RBF5 Limited Biomarker [310]
ELN OTFSO7PG Limited Genetic Variation [311]
EPB41L1 OT4CL5DC Limited Biomarker [312]
EPS8 OTZ6ES6V Limited Altered Expression [313]
ERCC2 OT1C8HQ4 Limited Genetic Variation [314]
ERI1 OTC8MPTZ Limited Genetic Variation [315]
EXT1 OTRPALJK Limited Biomarker [316]
EYA4 OTINGR3Z Limited Genetic Variation [317]
FCN2 OTTHJBKZ Limited Genetic Variation [42]
FEM1B OTFE2ELA Limited Biomarker [318]
FERD3L OTW351LV Limited Biomarker [319]
FILIP1 OTMZD6D4 Limited Biomarker [320]
FOXF1 OT2CJZ5K Limited Genetic Variation [321]
FOXL2 OTFRQUYL Limited Genetic Variation [322]
FOXP2 OTVX6A59 Limited Genetic Variation [323]
FSIP1 OTYLL6GM Limited Genetic Variation [324]
FXR1 OTEMQ1SR Limited Genetic Variation [325]
GARS1 OT5B6R9Y Limited Genetic Variation [63]
GCHFR OTEOT8GI Limited Genetic Variation [42]
GDI2 OTGLY3I7 Limited Genetic Variation [326]
GFER OTVK43OK Limited Biomarker [327]
GK OTK2YRA0 Limited Genetic Variation [328]
GMPPA OTADC03N Limited Biomarker [329]
GMPPB OTJ0CCJ8 Limited Genetic Variation [330]
GPD2 OTV232Y7 Limited Genetic Variation [331]
GTF2I OTUYL1TQ Limited Genetic Variation [332]
HEPACAM OT1MJ51D Limited Biomarker [333]
HEPACAM2 OTQ90IG5 Limited Biomarker [334]
HIRA OTON40EJ Limited Altered Expression [335]
HIVEP2 OTVOMCW4 Limited Biomarker [336]
HMGB3 OTCJ2EZY Limited Biomarker [337]
HOXA1 OTMSOJ7D Limited Genetic Variation [338]
HOXD13 OTWSC8TF Limited Genetic Variation [339]
ICE2 OTJ3BXND Limited Genetic Variation [340]
IER3IP1 OTCYSU28 Limited Biomarker [341]
IL1RAPL1 OTW3T4B2 Limited Genetic Variation [342]
INF2 OT8ZM13C Limited Biomarker [343]
INPP5K OTQFLQKA Limited Genetic Variation [344]
ITSN1 OT8YF3S5 Limited Biomarker [345]
JARID2 OT14UM8H Limited Biomarker [346]
KALRN OT8WRCBH Limited Biomarker [347]
KANSL1 OTYNSNNZ Limited Biomarker [348]
KATNAL1 OTBUZ7KA Limited Biomarker [349]
KCMF1 OTVTKFAU Limited Genetic Variation [350]
KDM2B OTDMCVW7 Limited Biomarker [351]
KIF1B OTI1XQTO Limited Genetic Variation [63]
KIF4A OT3UWL7D Limited Genetic Variation [352]
KLF8 OTUC5CDB Limited Biomarker [353]
KLHL15 OTQ8T3LB Limited Biomarker [286]
LAMA2 OTFROQWE Limited Genetic Variation [354]
LAMTOR2 OTHEDISB Limited Biomarker [287]
LAS1L OTG4I2A1 Limited Genetic Variation [355]
LIN7A OTFL3PUX Limited Biomarker [356]
LRRC37A OT41U0KO Limited Genetic Variation [357]
MAB21L2 OTZM5VMX Limited Biomarker [358]
MAD2L1BP OT2O2IUJ Limited Genetic Variation [63]
MAN2C1 OT17VT8D Limited Biomarker [359]
MAP7D3 OTB7ZTPO Limited Biomarker [360]
MBOAT7 OTHRCBLK Limited Genetic Variation [361]
MFHAS1 OTS922CJ Limited Genetic Variation [315]
MID1 OTWN1PGU Limited Genetic Variation [362]
MNAT1 OTXLOYCB Limited Genetic Variation [42]
MPP7 OT3G3HTZ Limited Genetic Variation [278]
MRGPRF OT74OZ2Z Limited Biomarker [363]
MYT1 OTC3660I Limited Genetic Variation [364]
NALCN OTWY7DS0 Limited Genetic Variation [365]
NCAM2 OT8LBJN8 Limited Genetic Variation [366]
NDST1 OT9E10W2 Limited Genetic Variation [367]
NEB OT7P9IR3 Limited Genetic Variation [368]
NELL2 OTS4MJZ7 Limited Biomarker [267]
NF1 OTC29NHH Limited Biomarker [369]
NFIA OTDHQ9CG Limited Biomarker [370]
NFIX OT1DPZAE Limited Genetic Variation [371]
NHS OTKE8QAT Limited Biomarker [372]
NLGN1 OTGHRRFQ Limited Biomarker [373]
NLGN4Y OT7E1S57 Limited Genetic Variation [374]
NPAS4 OTA3HH6W Limited Genetic Variation [375]
NRCAM OT80HHQ2 Limited Genetic Variation [376]
NRXN3 OTJ0I7HJ Limited Biomarker [83]
NSF OTKRJ2ZT Limited Biomarker [377]
NUDT21 OTZHKWAR Limited Biomarker [378]
NUFIP2 OTZBZ224 Limited Genetic Variation [379]
NUP62 OTMN63DH Limited Biomarker [380]
NXPH1 OTGKX860 Limited Genetic Variation [381]
OFD1 OTAZW5TK Limited Genetic Variation [382]
OGT OT1Z1ZXE Limited Genetic Variation [383]
OMG OTXA5C6L Limited Genetic Variation [384]
P2RX2 OT0LF34A Limited Biomarker [385]
PACS1 OT9TMQL3 Limited Genetic Variation [386]
PAFAH1B3 OT6A9JT8 Limited Biomarker [15]
PAPSS2 OTDLEXPN Limited Biomarker [387]
PAX3 OTN5PJZV Limited Biomarker [388]
PC OT6O0V51 Limited Genetic Variation [389]
PCDH18 OTTLQWRN Limited Biomarker [390]
PCLO OTXJZZ98 Limited Altered Expression [391]
PDIK1L OTISF4KG Limited Genetic Variation [145]
PEX11B OTB1AWPM Limited Biomarker [392]
PIGG OTO10SVP Limited Genetic Variation [393]
PISD OTP9COQT Limited Biomarker [394]
PJA1 OTFKTMEI Limited Biomarker [395]
PLCH2 OTYERO80 Limited Biomarker [396]
POMGNT1 OTBNOUZC Limited Genetic Variation [397]
POU1F1 OTXT8A5C Limited Biomarker [398]
POU3F4 OTKF5AF7 Limited Genetic Variation [399]
PPP1R15B OTL5RWA8 Limited Genetic Variation [400]
PPP2R2C OTXK0SDM Limited Genetic Variation [401]
PRRG4 OT2SZQI7 Limited Biomarker [402]
PTCHD1 OTFDLU5S Limited Genetic Variation [403]
PUF60 OTG90DYF Limited Biomarker [404]
PUS1 OTS2DQ0N Limited Biomarker [405]
PYCR1 OTQHB52T Limited Genetic Variation [406]
PYCR2 OTS2HLGD Limited Biomarker [407]
QKI OTTAUGLB Limited Biomarker [408]
RAB39B OTDCLLT0 Limited Biomarker [409]
RAB3A OT2GIUO5 Limited Biomarker [410]
RABEP2 OTO61X27 Limited Genetic Variation [411]
RAD21 OTQS84ZF Limited Biomarker [310]
RBFOX1 OTFPKEL7 Limited Altered Expression [412]
RBFOX2 OTXY1WVH Limited Biomarker [363]
RBM28 OT9A48WV Limited Biomarker [413]
RBM8A OT5SR6G0 Limited Biomarker [414]
RCAN1 OT1MVXC7 Limited Altered Expression [415]
REC8 OT6JAVXE Limited Genetic Variation [234]
REEP1 OTEMVFX7 Limited Biomarker [416]
RLIM OTEBRNHJ Limited Genetic Variation [417]
RNASEH2A OT8G3G7K Limited Biomarker [123]
RNASEH2B OT8KHYFY Limited Biomarker [123]
RNASEH2C OTJL9ZRN Limited Biomarker [123]
RNF112 OT0Q9OUQ Limited Biomarker [418]
RNF113A OTR6N7HU Limited Biomarker [419]
RNPS1 OT7G4COD Limited Biomarker [420]
RPP14 OT4OYFSK Limited Biomarker [287]
RTTN OT5PB986 Limited Biomarker [421]
RUNX1T1 OT30DED5 Limited Genetic Variation [422]
RYR2 OT0PF19E Limited Genetic Variation [423]
SACS OTZGXQ8A Limited Biomarker [424]
SATB2 OT2W80XC Limited Biomarker [425]
SBNO1 OTNX3RL0 Limited Biomarker [426]
SCARF2 OT0X0ZLC Limited Genetic Variation [366]
SDK2 OTTBK3MH Limited Autosomal recessive [1]
SEMA5A OTUOIOJV Limited Biomarker [427]
SERAC1 OTWH1ULQ Limited Genetic Variation [428]
SETD5 OTRPAVEO Limited Biomarker [429]
SF3B6 OTPRKS6S Limited Biomarker [287]
SH2D3A OTVJBSRC Limited Genetic Variation [430]
SHANK1 OTK8PV0S Limited Biomarker [431]
SHOC2 OTUNQ2CT Limited Genetic Variation [432]
SIL1 OTDI85I5 Limited Biomarker [433]
SIM1 OTYKFPKZ Limited Genetic Variation [434]
SKI OT4KJ8F6 Limited Genetic Variation [435]
SLC25A5 OT1XIBMN Limited X-linked [1]
SMOC1 OTJG2JQY Limited Biomarker [436]
SNX3 OTXL5W8F Limited Biomarker [437]
SPTAN1 OT6VY3A3 Limited Genetic Variation [438]
SRA1 OTYOGMTG Limited Genetic Variation [439]
SRGAP1 OTL89HGW Limited Biomarker [440]
SRGAP2 OTUWFMCQ Limited Biomarker [440]
SRPK3 OT239QMC Limited X-linked [1]
SRSF2 OTVDHO6U Limited Biomarker [420]
STT3A OTDPS6AV Limited Biomarker [441]
STT3B OTRLJTF0 Limited Biomarker [441]
STX3 OT4CIWLJ Limited Genetic Variation [442]
STXBP1 OTRYA8C3 Limited Autosomal dominant [1]
SYNE1 OTSBSLUH Limited Biomarker [443]
TAF1 OTDYS5G4 Limited Genetic Variation [444]
TANC1 OTF6TZ8E Limited Genetic Variation [445]
TBC1D24 OTKZUSMD Limited Genetic Variation [446]
TBP OT6C0S52 Limited Biomarker [447]
TBR1 OT14JQT8 Limited Biomarker [448]
TBX3 OTM64N7K Limited Genetic Variation [449]
TCF4 OTB9ASTK Limited Autosomal dominant [1]
TCTN1 OTG5KEV8 Limited Biomarker [450]
TECR OT2NT4MV Limited Autosomal recessive [2]
TESC OTI8C76M Limited Biomarker [451]
TLK1 OTICTXI8 Limited Altered Expression [452]
TMCO1 OTSME34W Limited Genetic Variation [453]
TMEM132D OTV6I4Z0 Limited Autosomal recessive [1]
TMEM185A OTX1JIEM Limited Biomarker [454]
TNR OTVJGAFN Limited Biomarker [455]
TRAPPC6A OT0ZRV5C Limited Biomarker [456]
TRPM3 OTE4CDOQ Limited Autosomal dominant [1]
TSPAN18 OTHSGPVB Limited Autosomal recessive [1]
TTI2 OTU7TQCO Limited Genetic Variation [457]
AMER1 OT8EFJPM Disputed Genetic Variation [458]
ATP6V1B2 OTNX2V4Z Disputed Biomarker [459]
CAPN12 OTU4OCC7 Disputed Autosomal recessive [1]
CCDC88A OT3SSYYC Disputed Genetic Variation [460]
CDH15 OTJ1TO02 Disputed Autosomal dominant [2]
CER1 OTTAJJ63 Disputed Biomarker [461]
CITED2 OT812TV7 Disputed Genetic Variation [462]
CLCN4 OT4A2UWF Disputed Genetic Variation [463]
COQ4 OTIU7FAZ Disputed Genetic Variation [464]
DGCR2 OTEGL17Z Disputed Genetic Variation [366]
DIPK2A OTL1DBIM Disputed Biomarker [465]
DLG2 OTQ3BD8U Disputed Genetic Variation [466]
DMXL2 OTB4JWN3 Disputed Biomarker [467]
DOCK6 OTPNUVLT Disputed Genetic Variation [468]
DPAGT1 OTYEJAGZ Disputed Genetic Variation [469]
EXT2 OT8IR5QN Disputed Genetic Variation [470]
GNB5 OT3ZSAXH Disputed Genetic Variation [471]
GPR52 OTPR99C7 Disputed Biomarker [472]
GUK1 OTLI0HRU Disputed Genetic Variation [473]
HBA1 OTW2BQF4 Disputed Genetic Variation [89]
HNF1B OTSYIC3T Disputed Genetic Variation [474]
HNRNPDL OTB3BFCV Disputed Genetic Variation [94]
HNRNPH2 OTMGP4J7 Disputed Genetic Variation [475]
IGSF3 OT6GWBAF Disputed Genetic Variation [476]
KANK1 OT2E7A6W Disputed Genetic Variation [477]
KCTD21 OTQT85SN Disputed Biomarker [478]
KIF14 OTXHT4JM Disputed Genetic Variation [479]
KPTN OTDWWFZJ Disputed Genetic Variation [480]
LAMB2 OT71OI2Y Disputed Genetic Variation [481]
LRP2BP OTVEH7V5 Disputed Genetic Variation [99]
MADD OTUFYVGG Disputed Genetic Variation [482]
MAGEL2 OTXEL4R7 Disputed Genetic Variation [483]
MAP6 OTPUI00F Disputed Biomarker [484]
MNX1 OTXP9FH1 Disputed Genetic Variation [485]
MXRA5 OTXZBWCU Disputed Genetic Variation [478]
NECTIN1 OTTE5ZR6 Disputed Biomarker [276]
NOSIP OTQTNFPJ Disputed Genetic Variation [99]
NPHP1 OTZHCFFQ Disputed Genetic Variation [381]
OTX2 OTTV05B1 Disputed Biomarker [486]
PCDHGA10 OTX34IK5 Disputed Genetic Variation [482]
PEX3 OTGZ7ME2 Disputed Genetic Variation [487]
PGK1 OT6V1ICH Disputed Biomarker [488]
PIGC OTDFW5KH Disputed Genetic Variation [489]
PITX3 OTE2KT8P Disputed Genetic Variation [490]
PPFIA2 OT34BLXJ Disputed Biomarker [491]
PRODH2 OTHO2TO0 Disputed Biomarker [478]
RAB23 OTBAKFBR Disputed Genetic Variation [492]
RASGEF1B OT56BBU0 Disputed Biomarker [94]
ROM1 OTE7H0YV Disputed Altered Expression [493]
SALL1 OTYYZGLH Disputed Genetic Variation [494]
SEMA4B OT1Y3YZD Disputed Genetic Variation [99]
SPAST OTIF3AJI Disputed Biomarker [495]
STARD13 OTB4U1HY Disputed Biomarker [496]
STARD9 OTZ5CIXU Disputed Genetic Variation [497]
SUMF1 OTALXO2A Disputed Biomarker [478]
SUOX OTEJQ9FC Disputed Altered Expression [498]
SYN1 OTMNPWC1 Disputed Genetic Variation [499]
TBX1 OTQLBPRA Disputed Biomarker [500]
TMLHE OTH4ZLJP Disputed Genetic Variation [501]
TOR3A OT04YLXE Disputed Biomarker [502]
TSPYL2 OTGGW2EF Disputed Genetic Variation [180]
ACSL4 OTI71MUJ moderate Biomarker [503]
ADPRS OTI1KPN6 moderate Biomarker [504]
AGO1 OTD3R434 moderate Genetic Variation [505]
AHI1 OT8K2YWY moderate Biomarker [113]
ALG13 OTOH9PMY moderate Biomarker [123]
ANK3 OTJ3IRBP Moderate Autosomal recessive [2]
AP1B1 OTY0K84R moderate Biomarker [506]
AP1S1 OTQ2H8DN moderate Biomarker [507]
AP4M1 OT2BG2Z3 moderate Biomarker [508]
APC OTKV0TIK moderate Genetic Variation [509]
ARID2 OTIRJXWM moderate Genetic Variation [510]
ARL14EP OTVMRFIN moderate Biomarker [511]
ASXL2 OTNG4E2M moderate Biomarker [512]
C12orf57 OT7V1MLD moderate Genetic Variation [513]
CAMK2B OTS9YK3E moderate Biomarker [281]
CAPN10 OTS9LJW4 moderate Genetic Variation [514]
CCDC22 OT1A1ZXH moderate Genetic Variation [515]
CNTN5 OTWU5FLZ moderate Biomarker [516]
COG6 OTDLQITC moderate Biomarker [517]
COX20 OTXL7EP2 moderate Genetic Variation [518]
CPLX1 OT7UIGTP moderate Biomarker [519]
CRBN OTXH9MDC Moderate Autosomal recessive [2]
CSTB OT3U0JF8 moderate Biomarker [123]
CTNND2 OTYKE30Y moderate Biomarker [520]
DHX30 OT7W9CEZ moderate Genetic Variation [521]
DIP2B OTP6KH82 moderate Altered Expression [522]
DISC1 OT43AW4H moderate Genetic Variation [523]
DPP6 OTWW3H0K moderate Genetic Variation [524]
DYNC1I2 OTS0UOL5 moderate Biomarker [525]
EEF1B2 OTW64NPU moderate Genetic Variation [526]
EIF3A OTFABY9G moderate Biomarker [527]
ELMOD3 OTLBB4DJ moderate Genetic Variation [528]
EMC1 OTYAH4LX moderate Genetic Variation [529]
FBN1 OTYCJT63 moderate Genetic Variation [530]
FCSK OT4NTHYO moderate Biomarker [531]
FKTN OTQ9GCXL moderate Biomarker [532]
GATAD2B OTJL128N moderate Biomarker [533]
GLRB OTF37UG4 moderate Genetic Variation [534]
GTF3C3 OTUGFW2O moderate Biomarker [535]
IMMT OTBDSLE7 moderate Biomarker [536]
IQSEC1 OTK1PBFD moderate Genetic Variation [537]
IQSEC2 OTYFRM4Q moderate Genetic Variation [538]
KDM3B OTZU5J5S moderate Genetic Variation [539]
KDM5B OT5DL94T Moderate Autosomal recessive [2]
KLF7 OTS3YVA0 moderate Genetic Variation [540]
KMT2C OTC59BCO moderate Biomarker [151]
L2HGDH OTW6C712 moderate Genetic Variation [541]
LAMA1 OTQZMP86 moderate Biomarker [542]
LINS1 OT1USO08 moderate Genetic Variation [543]
LNPK OTOBNX6G moderate Biomarker [544]
MAP1B OTVXW089 moderate Genetic Variation [545]
MBD5 OTFHT4MO moderate Genetic Variation [546]
MBTPS2 OT67CC7W moderate Genetic Variation [547]
MCC OTQVI1EM moderate Biomarker [548]
MED12L OTT0HR5M moderate Genetic Variation [549]
MED13 OTP5LEJE moderate Biomarker [550]
METTL23 OTO7O557 moderate Genetic Variation [551]
METTL5 OTR0OO41 moderate Genetic Variation [552]
MID2 OTAAQNZA moderate Biomarker [553]
MN1 OTVQR4R9 moderate Genetic Variation [554]
NFIB OTX94PD0 moderate Biomarker [370]
NRXN2 OTB04QSU moderate Biomarker [555]
NSDHL OTK3EJFD moderate Genetic Variation [556]
NSUN2 OTZCNM33 moderate Biomarker [220]
NUDT2 OTMHM1DH moderate Biomarker [557]
PCDH12 OT2VANLI moderate Biomarker [558]
PET100 OTQ0J3DT moderate Biomarker [559]
PGAP3 OTH9A75E moderate Genetic Variation [560]
PHF6 OT8DXI40 moderate Genetic Variation [561]
PIGP OTGYAH4X moderate Biomarker [562]
PLP1 OT8CM9CX moderate Biomarker [563]
PNPT1 OTBR2Q0F moderate Biomarker [564]
POMT1 OTGQSHL5 moderate Genetic Variation [565]
PRRT2 OTCJUBDO moderate Genetic Variation [566]
PTRHD1 OTN0GYY8 moderate Biomarker [567]
RAB11A OTC4FW0J moderate Biomarker [568]
RAI1 OTKLQU00 moderate Biomarker [569]
RNASET2 OTWY64L7 moderate Biomarker [123]
RNF13 OT7HNYF4 moderate Biomarker [570]
RUSC2 OT0EKMVR moderate Genetic Variation [571]
SCAMP5 OT9MXA2J moderate Biomarker [572]
SCAPER OT7S3B3P moderate Genetic Variation [573]
SETBP1 OTKGCOSR moderate Biomarker [574]
SETD1A OTVVWRIC moderate Biomarker [575]
SHROOM4 OT33GO6E moderate Biomarker [576]
SIN3A OTM8OZWV moderate Biomarker [577]
SLC2A4RG OTW3LX8D moderate Biomarker [527]
SMC3 OTWGFRHD moderate Genetic Variation [578]
SMS OT8JYKNH moderate Genetic Variation [579]
SRPX2 OT6A63TX moderate Genetic Variation [580]
STIL OT9799VN moderate Genetic Variation [581]
STRA6 OT2IDF27 moderate Genetic Variation [582]
SUZ12 OT655XF8 moderate Biomarker [152]
SYNJ1 OTTE02XC moderate Genetic Variation [583]
TANC2 OTDXY7PX moderate Biomarker [584]
TCF7L2 OTVWPZ8B Moderate Autosomal dominant [1]
TCOF1 OT4BOYTM moderate Genetic Variation [118]
TMEM240 OTWOP87P moderate Genetic Variation [585]
TMTC3 OTMTTDYG moderate Genetic Variation [586]
TRAPPC11 OTPZYXGA moderate Genetic Variation [587]
TRIO OT71X1AK moderate Genetic Variation [588]
TSEN15 OT14UW31 moderate Biomarker [589]
AASS OTYCN07T Strong Biomarker [123]
ACTB OT1MCP2F Strong Biomarker [590]
ACTL6B OTO7EJIS Strong Biomarker [591]
ACY1 OT9WU7X3 Strong Biomarker [123]
ADAT3 OTMEU45R Strong Biomarker [592]
ADGRB3 OT1EWGRW Strong Genetic Variation [593]
ADSL OTSNJALL Strong Biomarker [123]
AFF3 OTR0705Z Strong Genetic Variation [594]
AGFG1 OTI8ZKC4 Strong Genetic Variation [571]
AGMO OTGMAHAT Strong Biomarker [595]
AIFM1 OTKPWB7Q Strong Biomarker [111]
AKAP6 OTN59BZS Strong Biomarker [596]
ALDH4A1 OT25Z6XH Strong Biomarker [123]
ALG14 OTBM7K28 Strong Biomarker [597]
ALKBH8 OTXN70DV Strong Biomarker [598]
AMIGO2 OTPAIT1O Strong Biomarker [599]
AMMECR1 OTWMQ67T Strong Genetic Variation [600]
AMY1A OT6G4B8O Strong Altered Expression [601]
ANKRD1 OTHJ7JV9 Strong Biomarker [602]
ANKRD11 OTV0V70M Strong Biomarker [603]
ANOS1 OTZJT4KN Strong Genetic Variation [604]
AP1S2 OTZHJFYI Strong Genetic Variation [605]
AP2M1 OTQCOSFN Strong Biomarker [606]
AP4B1 OTGJUIRA Strong Genetic Variation [508]
AP4E1 OT4DUNVU Strong Biomarker [113]
AP4S1 OTM3QBU8 Strong Biomarker [607]
ARHGEF2 OTBQTFRT Strong Genetic Variation [608]
ARID1A OTRWDV3P Strong Genetic Variation [609]
ARID1B OTILK3Q7 Strong Biomarker [610]
ARMC9 OT0MZER2 Strong Genetic Variation [611]
ARSD OTAHW9M8 Strong Biomarker [612]
ASAH1 OT1DNGXL Strong Biomarker [613]
ASCL1 OTI4X44G Strong Biomarker [113]
ASH1L OTUT5NLJ Strong Genetic Variation [614]
ASS1 OT4ZMG0Q Strong Biomarker [615]
ASTN1 OT23FQIB Strong Biomarker [616]
ASXL1 OTX931AW Strong Biomarker [512]
ASXL3 OTNDJWEZ Strong Genetic Variation [617]
ATL1 OTR2788Y Strong Biomarker [618]
ATN1 OTNZFLKY Strong Biomarker [619]
ATP13A2 OTKWBUGK Strong Genetic Variation [121]
ATP8A2 OTDZC2ZT Strong Genetic Variation [620]
ATRX OT77RSQW Strong Genetic Variation [621]
ATXN1 OTQF0HNR Strong Genetic Variation [622]
B4GALNT1 OTCY80HS Strong Genetic Variation [623]
BANF1 OTP7Z38L Strong Genetic Variation [624]
BBS2 OTPF9JIB Strong Biomarker [625]
BBS7 OTELYWDQ Strong Biomarker [113]
BCAP31 OTKSACR4 Strong Genetic Variation [626]
BCAS4 OT596N5E Strong Biomarker [627]
BCL11B OT8KKCVJ Strong Biomarker [628]
BCORL1 OTPTFQN5 Strong Genetic Variation [629]
BPTF OTD1RZAD Strong Biomarker [630]
BRAP OTB7BAFQ Strong Genetic Variation [631]
BRAT1 OT5ABVYX Strong Genetic Variation [631]
BRF1 OTQC6DMG Strong Biomarker [632]
BRWD3 OT3BM9B0 Strong Biomarker [633]
CA8 OT9Y8GA8 Strong Genetic Variation [602]
CADPS2 OTV1FW0M Strong Genetic Variation [634]
CARF OTWE0T6Q Strong Genetic Variation [635]
CBLL2 OTB4AD3V Strong Genetic Variation [417]
CC2D2A OTFGRGFR Strong Biomarker [636]
CCBE1 OTO4UIDB Strong Genetic Variation [637]
CCDC47 OTUIN61P Strong Biomarker [638]
CDC42 OT5QBC5M Strong Biomarker [639]
CDK10 OTKP7TTR Strong Biomarker [640]
CENPF OT7AG0SW Strong Genetic Variation [641]
CEP83 OTNJGQ11 Strong Genetic Variation [642]
CERT1 OTNUCNHX Strong Biomarker [643]
CHAMP1 OTBGWU86 Strong Biomarker [644]
CHD2 OTRKL6YC Strong Genetic Variation [645]
CHD3 OTDBU4F3 Strong Biomarker [646]
CHD4 OTBDEHDP Strong Genetic Variation [533]
CHD7 OTHNIZWZ Strong Biomarker [647]
CHD8 OTS7A6AF Strong Autosomal dominant [1]
CIC OTFXCHNZ Strong Altered Expression [463]
CLIC2 OTDBURM4 Strong Genetic Variation [648]
CLN8 OT0D4CB5 Strong Biomarker [649]
CLPB OT1I0IBK Strong Genetic Variation [650]
CNDP1 OTOYSQG7 Strong Biomarker [651]
CNKSR2 OTAGERJ2 Strong Genetic Variation [652]
CNNM2 OTZHO8WU Strong Genetic Variation [653]
CNTN4 OTULXVE0 Strong Biomarker [516]
CNTN6 OTXVGVOR Strong Genetic Variation [654]
COQ5 OTRLXGS6 Strong Biomarker [113]
COQ8A OT1ETSA2 Strong Genetic Variation [655]
COX8A OTU0NR39 Strong Biomarker [602]
CRADD OT02TZ4S Strong Genetic Variation [656]
CSDE1 OT15D7GH Strong Biomarker [657]
CSNK2B OT2WW7R1 Strong Genetic Variation [145]
CTCF OT8ZB70U Strong Genetic Variation [658]
CTNNA2 OTJ8G92T Strong Biomarker [659]
CUX2 OTDJTQAJ Strong Genetic Variation [660]
CWF19L1 OTAMYTOW Strong Genetic Variation [661]
CYFIP2 OTCAY35T Strong Genetic Variation [662]
DCC OT2C1SHW Strong Genetic Variation [663]
DCX OTISR7K3 Strong Genetic Variation [664]
DDHD2 OTUP0WHF Strong Genetic Variation [665]
DDX3X OTDO4TRX Strong Genetic Variation [666]
DDX6 OTKWXVDY Strong Genetic Variation [667]
DIAPH1 OTZBYPLH Strong Biomarker [668]
DLX3 OTARP5SQ Strong Genetic Variation [669]
DNAJC6 OT1P6ZIE Strong Biomarker [670]
DOCK8 OTNQLL21 Strong Genetic Variation [671]
DOP1B OTQTOWLQ Strong Altered Expression [672]
DPF2 OTL0JH2C Strong Biomarker [673]
DPH1 OT0QU3JY Strong Genetic Variation [674]
DYM OTQ670WI Strong Biomarker [299]
EBF3 OTB0IWLW Strong Altered Expression [675]
EEF1A2 OT9Z23K5 Strong Biomarker [676]
EFTUD2 OT3X7QG2 Strong Genetic Variation [677]
EIF2A OTWXELQP Strong Biomarker [678]
EIF2S1 OTM0GDTP Strong Biomarker [679]
EIF2S2 OTXF0B09 Strong Biomarker [679]
EIF2S3 OTARRES9 Strong Genetic Variation [680]
EIF3F OTU20K6L Strong Biomarker [681]
EIF4A3 OTYYFE7K Strong Biomarker [414]
ELAC2 OTY3BOF6 Strong Genetic Variation [682]
ELMOD1 OT0WRVJC Strong Biomarker [683]
ELP2 OTBXG37N Strong Genetic Variation [684]
ENOSF1 OT65D3ZK Strong Biomarker [685]
ERCC6 OT2QZKSF Strong Genetic Variation [295]
ERCC8 OT0T4WKI Strong Biomarker [295]
ERLIN2 OT551BVG Strong Biomarker [686]
EXOC6B OTFI1IPG Strong Biomarker [687]
FAM111A OTVLARLG Strong Genetic Variation [688]
FARSB OT8N9TT5 Strong Biomarker [689]
FBXL3 OTDQ1QKV Strong Genetic Variation [690]
FBXO28 OTKTMVC4 Strong Biomarker [691]
FBXO31 OTF96IC2 Strong Genetic Variation [692]
FBXW11 OT2A6RLR Strong Biomarker [693]
FKRP OTMUZ7GH Strong Biomarker [694]
FMN2 OTUY7BSV Strong Genetic Variation [695]
FOXG1 OTAW57J4 Strong Genetic Variation [696]
FRMPD4 OT60SNXQ Strong Genetic Variation [697]
FRY OT74IAG2 Strong Biomarker [113]
FUCA1 OTW71IK4 Strong Biomarker [698]
FUT8 OTJJCVG1 Strong Biomarker [699]
FXR2 OTQX7ATF Strong Altered Expression [700]
GABRB3 OT80C3D4 Strong Genetic Variation [701]
GALT OTCATU66 Strong Biomarker [123]
GAMT OTVC87ES Strong Biomarker [702]
GARNL3 OTYK950M Strong Biomarker [703]
GDF10 OTEVXGJ7 Strong Genetic Variation [704]
GIT1 OTHO92S5 Strong Genetic Variation [705]
GLI3 OTKDOE94 Strong Biomarker [706]
GLRA3 OTC8C2NC Strong Genetic Variation [707]
GNAI2 OTTLGRGH Strong Biomarker [318]
GNAS OTMH8BKJ Strong Biomarker [708]
GNB1 OTLL7L74 Strong Biomarker [709]
GON4L OTWQVLO9 Strong Biomarker [113]
GOT2 OT6XBWN0 Strong Biomarker [710]
GPT2 OTS5VF7N Strong Genetic Variation [711]
GTPBP2 OTOJ1KUA Strong Biomarker [712]
H1-4 OTQ450A3 Strong Genetic Variation [713]
H3-4 OTY6ITYF Strong Biomarker [113]
H4C1 OTB71W46 Strong Genetic Variation [714]
HECW2 OTP2IN12 Strong Genetic Variation [715]
HERC1 OT73FVYZ Strong Genetic Variation [716]
HERC2 OTNQYKOB Strong Genetic Variation [717]
HMGCL OTRO9RII Strong Biomarker [718]
HNRNPH1 OTFRWOLM Strong Biomarker [719]
HNRNPK OTNPRM8U Strong Biomarker [720]
HNRNPR OT3FITK2 Strong Biomarker [721]
HNRNPU OTLQN1E2 Strong Genetic Variation [722]
HUWE1 OTFH6BJS Strong Biomarker [723]
IFT43 OTKWYQ5C Strong Biomarker [724]
INPP5E OTJF2AZ9 Strong Biomarker [725]
IQSEC3 OTBHQK29 Strong Biomarker [678]
ITM2A OT590V63 Strong Genetic Variation [399]
KARS1 OT0EU4SV Strong Biomarker [726]
KAT8 OT5LPQTR Strong Genetic Variation [727]
KCNJ16 OT174UPV Strong Genetic Variation [170]
KIDINS220 OTLBH2MA Strong Genetic Variation [728]
KIF1A OT3JVEGV Strong Genetic Variation [729]
KIF5C OT35570Y Strong Genetic Variation [352]
KIF7 OT1J6NAW Strong Biomarker [81]
KIFBP OT1XADKG Strong Biomarker [730]
KIRREL3 OTW7PENS Strong Genetic Variation [731]
KLF12 OTVH4KD4 Strong Genetic Variation [732]
KMT2D OTTVHCLY Strong Genetic Variation [733]
KMT2E OTYOLNOG Strong Biomarker [734]
LAD1 OT6YGTVX Strong Biomarker [735]
LARGE1 OTUH7H9F Strong Biomarker [736]
LARP7 OTLLOZTL Strong Genetic Variation [737]
LEPROT OT2EENVA Strong Biomarker [670]
LGI4 OTZGS8BN Strong Biomarker [738]
LMAN2L OTJ9FAWS Strong Biomarker [739]
MAB21L1 OT8FJMU8 Strong Biomarker [740]
MACF1 OTVIHD77 Strong Biomarker [741]
MACROD2 OTNQCHC6 Strong Biomarker [742]
MAN1B1 OTI780UB Strong Genetic Variation [743]
MAPK8IP3 OT0X8ACY Strong Genetic Variation [744]
MATN1 OTBRTCTQ Strong Biomarker [745]
MCM3AP OT895FEC Strong Genetic Variation [746]
MED12 OTQZ4D2X Strong Biomarker [706]
MED13L OTSP1W0F Strong Genetic Variation [747]
MED18 OT6M6CQ8 Strong Genetic Variation [748]
MED23 OTKZQT0R Strong Biomarker [749]
MED25 OTDBY87B Strong Genetic Variation [750]
MEF2C OTZGF1Y5 Strong Biomarker [751]
MEIS2 OTG4ADLM Strong Biomarker [752]
MFSD2A OTVG1VG0 Strong Biomarker [753]
MINDY3 OT6YZPWC Strong Biomarker [602]
MRPS14 OTA8H3LB Strong Biomarker [754]
MSL3 OTTP9765 Strong Biomarker [755]
MUL1 OT2JC9YR Strong Genetic Variation [417]
MYO16 OTMS3D8W Strong Genetic Variation [756]
MYT1L OTV45MAS Strong Biomarker [757]
NAA10 OTYB9R6I Strong Genetic Variation [758]
NAA15 OT53SIZG Strong Genetic Variation [759]
NBEA OTYLY5TY Strong Biomarker [760]
NCOA6 OTOMIGTV Strong Biomarker [761]
NEU1 OTH9BY8Y Strong Altered Expression [762]
NEUROD1 OTZQ7QJ2 Strong Biomarker [763]
NIPBL OTF6OOLU Strong Genetic Variation [764]
NKAP OT7K7I8Q Strong Biomarker [765]
NLGN2 OTHDYL3H Strong Biomarker [766]
NLGN3 OTKDEC1Q Strong Biomarker [767]
NOLC1 OTKDZU0D Strong Genetic Variation [768]
NONO OTN36Q6U Strong Genetic Variation [769]
NPAS1 OTZKO6ZN Strong Biomarker [770]
NR2F1 OTGWZWYL Strong Genetic Variation [771]
NRXN1 OTJN1JQA Strong Biomarker [117]
NSD2 OTQ6SW4R Strong Biomarker [772]
NTNG1 OTF48IID Strong Genetic Variation [773]
NTNG2 OTTY88DL Strong Biomarker [774]
OCRL OTQ3L42N Strong Biomarker [775]
OSGEP OT38HX9V Strong Biomarker [776]
OTUD6B OTNGMN6S Strong Genetic Variation [777]
OXA1L OTS0BFRD Strong Genetic Variation [778]
OXR1 OTPIDMT3 Strong Genetic Variation [779]
P4HTM OTKELL7F Strong Biomarker [780]
PACS2 OTPU9HUA Strong Genetic Variation [781]
PAFAH1B1 OT9T2TCJ Strong Biomarker [782]
PAK3 OT80M3BV Strong Genetic Variation [783]
PAX6 OTOC9876 Strong Genetic Variation [784]
PBX1 OTORABGO Strong Genetic Variation [785]
PCDH10 OT2GIT0E Strong Genetic Variation [786]
PCGF2 OTIY1J5L Strong Biomarker [787]
PDHX OTG7O271 Strong Biomarker [113]
PECR OT5MS8EM Strong Biomarker [113]
PEX1 OTQJF0V7 Strong Genetic Variation [788]
PEX6 OTFAK5EF Strong Biomarker [113]
PEX7 OTM7VBRC Strong Genetic Variation [789]
PGAP1 OT1WQ55V Strong Genetic Variation [790]
PGAP2 OTUW3SAX Strong Genetic Variation [791]
PHACTR1 OTAMPX9V Strong Genetic Variation [792]
PHF21A OTU3FFG4 Strong Genetic Variation [793]
PHIP OTZY806Z Strong Biomarker [794]
PIGA OT51UWUR Strong Biomarker [795]
PIGB OTD96AQX Strong Biomarker [796]
PIGN OTHHTJKX Strong Genetic Variation [797]
PIGV OTI6LT46 Strong Genetic Variation [798]
PIGW OTT9SMTF Strong Genetic Variation [799]
PIP OTH719AH Strong Genetic Variation [800]
PITRM1 OTDEAZ8K Strong Biomarker [801]
PLA1A OT2IXYNX Strong Genetic Variation [802]
POGZ OT4CYWC1 Strong Biomarker [803]
POLR3B OT3FS9MB Strong Biomarker [113]
POMT2 OTO1ZQZX Strong Genetic Variation [804]
POU3F2 OT30NFOC Strong Genetic Variation [805]
POU3F3 OT6BBXPD Strong Biomarker [806]
PPP1CB OTYFTYFR Strong Biomarker [807]
PPP1R12A OT4AVU95 Strong Biomarker [808]
PPP2R1A OTYA3GB4 Strong Biomarker [643]
PPP2R5B OTW2QIX9 Strong Genetic Variation [809]
PPP2R5D OT43TTX0 Strong Genetic Variation [810]
PQBP1 OTXCBEAH Strong Genetic Variation [811]
PRKRA OTUTVZZU Strong Biomarker [113]
PRR12 OTY2ILFT Strong Genetic Variation [812]
PSMD12 OTWICA51 Strong Biomarker [813]
PTPN23 OT5WDPXB Strong Biomarker [589]
PTS OTTYWQXR Strong Biomarker [123]
PUM1 OTTMWP8L Strong Biomarker [814]
PURA OT975ELW Strong Biomarker [815]
PUS3 OT6WG6M2 Strong Altered Expression [816]
PUS7 OTE5AQHJ Strong Genetic Variation [817]
QDPR OTSKOIUX Strong Genetic Variation [818]
QRICH1 OTPVAX04 Strong Biomarker [258]
RAB11B OT6GI23M Strong Biomarker [819]
RAB3GAP1 OT4DQ8F2 Strong Genetic Variation [768]
RAB40AL OTZWO8A5 Strong Genetic Variation [820]
RABL6 OTJLVIQ1 Strong Biomarker [113]
RAG2 OTG9UYTW Strong Biomarker [821]
RALA OT734R7X Strong Genetic Variation [822]
RALGAPA1 OTHT5DW0 Strong Biomarker [823]
RALGDS OTG36NI7 Strong Biomarker [113]
RARS1 OTHPZ6JN Strong Biomarker [824]
RBL2 OTBQSOE6 Strong Genetic Variation [768]
RBMX OTFZN66E Strong Biomarker [825]
RECQL4 OT59LSW7 Strong Biomarker [685]
RGS7 OTDQA90X Strong Biomarker [113]
RHOBTB2 OT2DATFX Strong Biomarker [826]
RNF125 OTBD1Q3X Strong Biomarker [827]
RPL10 OTBHOZGC Strong Genetic Variation [828]
RPS6 OTT4D1LN Strong Biomarker [829]
RRM2B OTE8GBUR Strong Biomarker [830]
RSPRY1 OT9MVWO0 Strong Biomarker [831]
RSRC1 OTFCJ4S0 Strong Altered Expression [832]
SARS1 OTFKXQ1O Strong Genetic Variation [262]
SARS2 OTU4T99W Strong Genetic Variation [262]
SC5D OT41KMW4 Strong Biomarker [833]
SDCCAG8 OTV2ZGV9 Strong Biomarker [258]
SERPINA4 OTBK0GG7 Strong Genetic Variation [604]
SFXN1 OTL66767 Strong Genetic Variation [834]
SHANK2 OTSQTPFQ Strong Genetic Variation [835]
SMARCA1 OT0Y6PTU Strong Biomarker [510]
SMARCA2 OTSGJ8SV Strong Biomarker [213]
SMARCC2 OTC5SNMZ Strong Genetic Variation [624]
SMARCD1 OTHFFT6G Strong Biomarker [836]
SMARCE1 OTAX4ITH Strong Genetic Variation [837]
SMC1A OT9ZMRK9 Strong Biomarker [838]
SNX14 OTXI9C1E Strong Genetic Variation [839]
SNX27 OTVPS7S0 Strong Biomarker [840]
SON OT9VWV18 Strong Genetic Variation [841]
SORCS3 OT4VOMBC Strong Genetic Variation [842]
SOX11 OT4LG7LA Strong Genetic Variation [843]
SOX3 OT1CRCOB Strong Biomarker [844]
SOX4 OTSS40SS Strong Biomarker [843]
SOX9 OTVDJFGN Strong Genetic Variation [170]
SPECC1L OT3WGZ73 Strong Biomarker [845]
SPG11 OTZ7LJX4 Strong Biomarker [846]
SRCIN1 OTQZNQQ5 Strong Genetic Variation [847]
SRGAP3 OT9ZS72C Strong Biomarker [848]
SRRM2 OTSIMMC9 Strong Biomarker [849]
ST3GAL3 OTOORKUE Strong Biomarker [850]
STAG1 OT564IX4 Strong Biomarker [117]
STAG2 OTR6X1Q7 Strong Biomarker [851]
STOML3 OTLQGALK Strong Genetic Variation [622]
SUPT16H OT9XWMQZ Strong Genetic Variation [852]
SURF1 OTAINRSS Strong Biomarker [113]
SVBP OT2VI301 Strong Genetic Variation [853]
SYNGAP1 OT41HVYQ Strong Biomarker [854]
SYP OTFJKMO4 Strong Genetic Variation [855]
SYT1 OTVTPOI6 Strong Biomarker [856]
SZT2 OTB4FVP4 Strong Genetic Variation [857]
TAF13 OT1XMYAD Strong Genetic Variation [858]
TAF6 OTY1Z9C4 Strong Biomarker [859]
TAT OT2CJ91O Strong Biomarker [860]
TBC1D20 OTDL1T6E Strong Biomarker [861]
TBC1D23 OTJMGQNZ Strong Biomarker [220]
TBCD OTS4JKNQ Strong Biomarker [862]
TBCE OTGBSTKS Strong Genetic Variation [688]
TBCK OTP38GVK Strong Genetic Variation [863]
TBX22 OTT1RM26 Strong Genetic Variation [399]
TCF12 OTZVONNU Strong Genetic Variation [81]
TCF20 OT8LQAOV Strong Genetic Variation [864]
TCN2 OT41D0L3 Strong Biomarker [865]
TCTN3 OTZSHERV Strong Genetic Variation [866]
TECPR2 OT1UFECZ Strong Genetic Variation [867]
TELO2 OT2YQ9L8 Strong Genetic Variation [868]
TENM3 OTWY13GR Strong Genetic Variation [869]
TFG OT2KJENI Strong Biomarker [870]
TGIF1 OTN9VHAG Strong Genetic Variation [871]
THOC2 OTNXE5G2 Strong Genetic Variation [872]
THOC6 OT8TEBYZ Strong Biomarker [873]
TLK2 OTZ09CG8 Strong Genetic Variation [452]
TMEM135 OT63ZT3X Strong Biomarker [113]
TMEM94 OTT4ZSUA Strong Biomarker [874]
TPI1 OT14KP4B Strong Biomarker [875]
TRAPPC2 OTWL5H45 Strong Genetic Variation [876]
TRAPPC4 OT3THRCA Strong Biomarker [877]
TRAPPC9 OTF0CVMC Strong Biomarker [878]
TREX1 OTQG7K12 Strong Biomarker [879]
TRIM8 OTS6JFR0 Strong Biomarker [880]
TRMT1 OTV0WBHX Strong Biomarker [881]
TRMT10A OTQ5AKN4 Strong Biomarker [882]
TRPS1 OT7XPPEL Strong Biomarker [883]
TRRAP OT68OI2Y Strong Biomarker [884]
TSC2 OT47LWI9 Strong Genetic Variation [885]
ADD3 OTDRSHAZ Definitive Genetic Variation [886]
AGAP1 OTVX8835 Definitive Genetic Variation [887]
AIMP1 OTTA5C3U Definitive Genetic Variation [888]
ARX OTBGYH25 Definitive Genetic Variation [194]
ATP6 OTPHOGLX Definitive Genetic Variation [889]
B3GALT6 OTF4HBAT Definitive Genetic Variation [890]
C1orf105 OTALIGHW Definitive Genetic Variation [489]
CAMK2G OTHD9KJG Definitive Genetic Variation [891]
CAMTA1 OTAN1S5B Definitive Biomarker [892]
CDKL5 OTGL5HRV Definitive Genetic Variation [893]
CHD5 OTS5EVHH Definitive Biomarker [647]
CHL1 OT6E6E8P Definitive Biomarker [894]
CLCN5 OT9YXZSO Definitive Biomarker [576]
CTNNA3 OT9Z0P1E Definitive Biomarker [45]
CYTH1 OTYH9NRJ Definitive Altered Expression [895]
DIO2 OTGPNSLH Definitive Biomarker [896]
DNAJA1 OT38BZQQ Definitive Genetic Variation [227]
DNAJC12 OTNU59PT Definitive Biomarker [897]
EEF1D OTM5ZD8Y Definitive Genetic Variation [898]
ELP4 OTP5GZ9V Definitive Genetic Variation [899]
EMX1 OT7NG5MJ Definitive Biomarker [900]
ENOPH1 OTKXMWNN Definitive Genetic Variation [901]
GSPT2 OTN0K7F3 Definitive Biomarker [902]
INTS1 OT7TY1M1 Definitive Genetic Variation [903]
KIF16B OTDWIFQ2 Definitive Biomarker [904]
KIF6 OTDH3MR4 Definitive Genetic Variation [905]
KMT2B OTMMAZQX Definitive Genetic Variation [906]
LETM1 OT8N4MRU Definitive Genetic Variation [907]
LMLN OTQF0JPY Definitive Biomarker [908]
MAGED1 OT6EOLFC Definitive Biomarker [902]
MAGT1 OTQSAV5C Definitive Biomarker [909]
MAST1 OTEYFN5O Definitive Genetic Variation [910]
MED17 OTEZR5GC Definitive Genetic Variation [911]
MGP OTZWU3FU Definitive Biomarker [912]
NAA50 OTFJ8S47 Definitive Biomarker [913]
NAB2 OTG4BDF3 Definitive Genetic Variation [914]
ND1 OTCLGIXV Definitive Altered Expression [915]
ND4 OT4RQVAA Definitive Genetic Variation [915]
NEFH OTMSCW5I Definitive Altered Expression [916]
NEGR1 OT57ECW9 Definitive Genetic Variation [917]
NEXMIF OT576F40 Definitive Biomarker [918]
NFIC OTLMCUIB Definitive Genetic Variation [919]
NPAS3 OT8D1ILB Definitive Genetic Variation [920]
OLIG2 OTMCN6D3 Definitive Biomarker [921]
OPN1LW OTFNUZ7O Definitive Genetic Variation [922]
PAG1 OTFOJUIQ Definitive Genetic Variation [922]
PCBP4 OTDLL4NB Definitive Genetic Variation [922]
PEX2 OTKOEYRM Definitive Biomarker [923]
PSD OTUZIXUZ Definitive Genetic Variation [924]
SET OTGYYQJO Definitive Autosomal dominant [2]
SFI1 OTI1P52G Definitive Biomarker [925]
SH2B2 OTEDHHDH Definitive Biomarker [926]
SH3BP4 OTVIRKW7 Definitive Biomarker [887]
SIM2 OT0QWHK4 Definitive Altered Expression [927]
SNRPA OT02TSQT Definitive Genetic Variation [928]
SNRPE OT18J6E8 Definitive Genetic Variation [929]
SOBP OTI8OO0M Definitive Genetic Variation [930]
TAF8 OTWWGCHV Definitive Genetic Variation [931]
TANK OTZSGFIK Definitive Biomarker [932]
TMEM127 OTYHUXC1 Definitive Genetic Variation [933]
TMPRSS13 OTMAOAP3 Definitive Biomarker [908]
TNFRSF10C OTVHOL9B Definitive Biomarker [226]
TPR OTUBBA4W Definitive Genetic Variation [934]
TSEN2 OT1UWYRI Definitive Biomarker [935]
TSEN34 OTH5FQHP Definitive Biomarker [935]
TSEN54 OT7MR9LY Definitive Biomarker [935]
TSPAN6 OT8X0NWN Definitive Genetic Variation [218]
------------------------------------------------------------------------------------
⏷ Show the Full List of 871 DOT(s)
This Disease Is Related to 265 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ABCC9 TTEF5MJ Limited Biomarker [3]
ACE2 TTUI5H7 Limited Biomarker [4]
AGTR2 TTQVOEI Limited Genetic Variation [5]
AMHR2 TTZDCPK Limited Biomarker [6]
AURKA TTPS3C0 Limited Autosomal dominant [1]
BRD2 TTDP48B Limited Biomarker [7]
CACNA1A TTX4QDJ Limited Genetic Variation [8]
CACNA2D1 TTFK1JQ Limited Genetic Variation [9]
CALY TT0R12H Limited Biomarker [10]
CBS TTVZJ7G Limited Genetic Variation [11]
CDK13 TTRIM0E Limited Genetic Variation [12]
CDK5 TTL4Q97 Limited Genetic Variation [13]
CHRM5 TTH18TF Limited Biomarker [14]
CLK2 TT85TPS Limited Genetic Variation [15]
CRBN TTDKGTC Limited Genetic Variation [16]
DCPS TTLSW9V Limited Genetic Variation [17]
DMPK TTZQTY2 Limited Biomarker [18]
DNMT3B TT6VZ78 Limited Biomarker [19]
DRD4 TTE0A2F Limited Genetic Variation [20]
DYRK1A TTSBVFO Limited Genetic Variation [21]
E2F3 TTWIJYH Limited Biomarker [22]
EPHA6 TTFAHWI Limited Genetic Variation [23]
ETS2 TT9AH0M Limited Biomarker [24]
FGFR3 TTST7KB Limited Biomarker [25]
GABRA1 TT1MPAY Limited Genetic Variation [26]
GJD2 TTOZAFI Limited Biomarker [14]
GREM1 TTOUZN5 Limited Genetic Variation [27]
GRIA1 TTVPQTF Limited Biomarker [28]
GRIA3 TT82EZV Limited Genetic Variation [29]
GRIK4 TTQV6BO Limited Genetic Variation [30]
GRIN2B TTN9D8E Limited Genetic Variation [31]
GRM5 TTHS256 Limited Biomarker [32]
GRM7 TT0I76D Limited Genetic Variation [33]
HDAC4 TTTQGH8 Limited Altered Expression [34]
HDAC8 TTT6LFV Limited Biomarker [35]
HNMT TT2B6EV Limited Genetic Variation [36]
HTR1A TTSQIFT Limited Biomarker [37]
HTR2B TT0K1SC Limited Genetic Variation [38]
IDS TTNY2AP Limited Biomarker [39]
IDUA TT0IUKX Limited Genetic Variation [40]
IGF1R TTQFBMY Limited Biomarker [41]
IL12A TTRTK6Y Limited Genetic Variation [42]
IL1RAP TTWS50K Limited Genetic Variation [43]
ITGA6 TT165T3 Limited Biomarker [44]
JMJD1C TTBISK4 Limited Biomarker [45]
KCNC1 TTVUWHQ Limited Genetic Variation [46]
KCNH1 TT9XKUC Limited Genetic Variation [47]
KCNJ6 TTTIBVP Limited Biomarker [48]
KCNK9 TTL4FMB Limited Genetic Variation [49]
KCNMA1 TTE87WJ Limited Altered Expression [50]
KCNQ2 TTPXI3S Limited Genetic Variation [51]
KCNT1 TTGJFK1 Limited Genetic Variation [52]
L1CAM TTC9D3K Limited Biomarker [53]
MAOB TTGP7BY Limited Biomarker [54]
MTF1 TTTQDEO Limited Biomarker [55]
NEDD4 TT1QU6G Limited Biomarker [56]
NOP2 TTBLG3H Limited Genetic Variation [57]
NSD1 TTTSJ3H Limited Genetic Variation [58]
PDGFB TTQA6SX Limited Biomarker [59]
PREPL TT3HYDO Limited Biomarker [60]
PRSS12 TT2JYUE Limited Genetic Variation [61]
PTEN TTXJ3W7 Limited Genetic Variation [62]
RAB7A TTF6WAQ Limited Genetic Variation [63]
RHO TTH0KSX Limited Biomarker [64]
RXRG TTH029C Limited Biomarker [65]
SCN2A TTLJTUF Limited Genetic Variation [66]
SLC1A3 TT8WRDA Limited Genetic Variation [67]
SLC22A12 TTA592U Limited Genetic Variation [68]
SLC38A5 TTC8YPT Limited Genetic Variation [69]
SLC6A11 TT8RXO5 Limited Biomarker [70]
SNAP25 TTYQWA0 Limited Biomarker [71]
SPOCK1 TTF23RE Limited Biomarker [72]
ST3GAL5 TTVF2BJ Limited Biomarker [73]
STS TTHM0R1 Limited Genetic Variation [74]
THRA TTTSEPU Limited Biomarker [75]
TNIK TTPB1W3 Limited Biomarker [76]
TPO TT52XDZ Limited Genetic Variation [77]
TRPC5 TT32NQ1 Limited Biomarker [78]
TRPM3 TTO3TD8 Limited Autosomal dominant [1]
TRPV6 TTBK14N Limited Biomarker [79]
TWIST1 TTX1MY7 Limited Altered Expression [34]
XPA TTGT87E Limited Biomarker [80]
AQP9 TTQEI32 Disputed Biomarker [81]
CENPE TTZD5QR Disputed Genetic Variation [82]
CEP290 TT3XBOV Disputed Biomarker [83]
CPS1 TT42M75 Disputed Genetic Variation [84]
DPYD TTZPS91 Disputed Biomarker [85]
FLNA TTSTRZY Disputed Genetic Variation [86]
FOS TTOM5AU Disputed Biomarker [87]
GLI2 TT045OH Disputed Biomarker [88]
HBA2 TTQO71U Disputed Genetic Variation [89]
HCN4 TTQP04A Disputed Biomarker [81]
ITPR1 TT5HWAT Disputed Genetic Variation [90]
KCNB1 TT5OEKU Disputed Genetic Variation [91]
KCNJ1 TTJ13ST Disputed Genetic Variation [92]
KCNJ10 TTG140O Disputed Genetic Variation [92]
MAPK1 TT4TQBX Disputed Biomarker [93]
PRKG2 TTDWFCQ Disputed Biomarker [94]
RORB TTGB2LZ Disputed Biomarker [95]
SLC26A4 TT7X02I Disputed Biomarker [96]
SOX2 TTCNOT6 Disputed Biomarker [97]
TGFBR1 TTP4520 Disputed Biomarker [98]
TOP1 TTGTQHC Disputed Genetic Variation [99]
TOP2B TT4NVEM Disputed Genetic Variation [100]
ALDH5A1 TTJUWVB moderate Biomarker [101]
CDH2 TT1WS0T moderate Genetic Variation [102]
CRBN TTDKGTC Moderate Autosomal recessive [2]
CREBBP TTFRCTK moderate Genetic Variation [103]
DNMT3A TTJUALD moderate Biomarker [104]
FDFT1 TTFQEO5 moderate Biomarker [105]
GRIA4 TTPJR0G moderate Genetic Variation [106]
GRIK2 TT0K5RG moderate Genetic Variation [107]
HHAT TT1VNCG moderate Biomarker [108]
HTT TTIWZ0O moderate Biomarker [109]
KDM5B TTCLI75 Moderate Autosomal recessive [2]
KMT5B TTJGV7F moderate Genetic Variation [110]
LONP1 TTM1VPZ moderate Genetic Variation [111]
LSS TT7O8ZA moderate Genetic Variation [112]
NAGLU TTDM6HZ moderate Biomarker [113]
NR4A2 TT9HKN3 moderate Biomarker [114]
RORA TT1TYN7 moderate Genetic Variation [115]
RPS6KA3 TTUM2ZR moderate Altered Expression [116]
SCN1A TTANOZH moderate Biomarker [117]
SLC6A7 TT9LGO5 moderate Biomarker [118]
TAF2 TTHMP8B moderate Genetic Variation [119]
TCF7L2 TT80QAL Moderate Autosomal dominant [1]
TRPM3 TTO3TD8 moderate Genetic Variation [120]
ABCB11 TTUXCAF Strong Genetic Variation [121]
ACTG1 TTGAZF9 Strong Genetic Variation [122]
ADK TTL732K Strong Biomarker [113]
ADRA2B TTWM4TY Strong Biomarker [113]
ALDH3A2 TTB6UM0 Strong Biomarker [123]
APC2 TTSMK36 Strong Biomarker [124]
APP TTE4KHA Strong Altered Expression [125]
ATIC TT9NVXQ Strong Biomarker [123]
ATP1A1 TTWK8D0 Strong Biomarker [126]
ATP1A2 TT5B6HJ Strong Biomarker [127]
ATR TT8ZYBQ Strong Genetic Variation [128]
AVPR2 TTK8R02 Strong Genetic Variation [129]
BCKDK TT7WD2Q Strong Biomarker [130]
BCL11A TTR61MW Strong Biomarker [131]
BDNF TTSMLOH Strong Altered Expression [132]
BRD4 TTSRAOU Strong Biomarker [133]
BRPF1 TTT46BN Strong Genetic Variation [134]
BRSK2 TTHZN4X Strong Biomarker [135]
C9orf72 TTA4SHR Strong Genetic Variation [136]
CA2 TTANPDJ Strong Genetic Variation [137]
CACNA1B TT4FDG6 Strong Biomarker [138]
CACNA1E TTYRP0M Strong Biomarker [139]
CACNA1G TT729IR Strong Biomarker [113]
CALCA TTVSFJW Strong Biomarker [140]
CALCR TTLWS2O Strong Genetic Variation [141]
CASP2 TT12VNG Strong Biomarker [113]
CCNA2 TTAMQ62 Strong Biomarker [113]
CDK5R1 TTBYM6V Strong Genetic Variation [13]
CDK8 TTBJR4L Strong Biomarker [142]
CHRNA7 TTLA931 Strong Genetic Variation [143]
COL18A1 TT63DI9 Strong Biomarker [113]
CPE TTXPWO6 Strong Biomarker [144]
CSNK2A1 TTER6YH Strong Genetic Variation [145]
DAG1 TT4X7PG Strong Biomarker [146]
DHPS TTBO2A9 Strong Biomarker [147]
DLG4 TT9PB26 Strong Biomarker [148]
DLL1 TT9CFQD Strong Biomarker [149]
EED TTFNJ4R Strong Biomarker [150]
EHMT1 TTOFXD7 Strong Biomarker [151]
ENTPD1 TTYM8DJ Strong Biomarker [113]
EZH2 TT9MZCQ Strong Genetic Variation [152]
FASN TT7AOUD Strong Biomarker [113]
FBXO11 TT6G10V Strong Genetic Variation [153]
FGFR2 TTGJVQM Strong Genetic Variation [154]
FOLR1 TTVC37M Strong Biomarker [113]
FOXP1 TT0MUCI Strong Biomarker [155]
GABRA2 TTBMV1G Strong Biomarker [156]
GABRA5 TTNZPQ1 Strong Genetic Variation [26]
GABRB2 TTZA1NY Strong Biomarker [157]
GALE TTGRHIB Strong Biomarker [123]
GPC3 TTJTSX4 Strong Genetic Variation [158]
GRIN1 TTLD29N Strong Genetic Variation [159]
GRIN2A TTKJEMQ Strong Genetic Variation [160]
GRIN2D TT5POTG Strong Biomarker [161]
GUSB TTHS7CM Strong Biomarker [162]
HEXA TTJI5JW Strong Biomarker [113]
HS6ST2 TTS6LBM Strong Genetic Variation [163]
HSPA9 TTMTPG3 Strong Genetic Variation [111]
HTR7 TTO9X1H Strong Genetic Variation [164]
ITGB6 TTKQSXZ Strong Genetic Variation [165]
KAT6A TT6O1J0 Strong Biomarker [166]
KAT6B TTH4VJL Strong Genetic Variation [167]
KCNA2 TTVFB0O Strong Biomarker [168]
KCND3 TTPLQO0 Strong Genetic Variation [169]
KCNJ2 TTH7UO3 Strong Genetic Variation [170]
KCNQ3 TTIVDM3 Strong Genetic Variation [51]
KCNQ5 TTWVL5Q Strong Genetic Variation [171]
KDM5A TTIG67W Strong Genetic Variation [172]
KDM5B TTCLI75 Strong Biomarker [172]
KDM5C TT94UCF Strong Genetic Variation [173]
KDM6B TTDIJUQ Strong Biomarker [113]
KIF11 TTBGTCW Strong Genetic Variation [174]
KIF5A TTCJPAH Strong Biomarker [175]
KMT2A TT1GNDM Strong Genetic Variation [176]
LAMP2 TTULDG7 Strong Genetic Variation [177]
LGR4 TTY6C71 Strong Biomarker [178]
LINGO1 TTZYQ80 Strong Genetic Variation [179]
LRP2 TTPH1AJ Strong Genetic Variation [180]
MAG TT9XFON Strong Genetic Variation [181]
MAOA TT3WG5C Strong Genetic Variation [182]
MAP2K1 TTIDAPM Strong Genetic Variation [183]
MAP3K8 TTGECUM Strong Biomarker [184]
MAPK10 TT056SO Strong Altered Expression [185]
MTOR TTCJG29 Strong Genetic Variation [186]
MYCN TT9JBY5 Strong Genetic Variation [187]
NTF4 TTIM2WO Strong Biomarker [140]
NTRK1 TTTDVOJ Strong Biomarker [188]
ODC1 TTUMGNO Strong Biomarker [189]
P2RY8 TT84EWY Strong Biomarker [190]
PAH TTGSVH2 Strong Genetic Variation [191]
PARP1 TTVDSZ0 Strong Biomarker [113]
PDE4D TTSKMI8 Strong Genetic Variation [192]
PDGFRB TTI7421 Strong Biomarker [193]
PHF8 TT81PFE Strong Altered Expression [194]
PIGU TT2LHI6 Strong Biomarker [195]
PNPLA6 TTWAQU2 Strong Genetic Variation [196]
POLA1 TTGPJ0U Strong Genetic Variation [197]
PPM1D TTENJAB Strong Genetic Variation [198]
PPP2CA TTHTKNY Strong Genetic Variation [199]
PRKCG TTRFOXJ Strong Biomarker [113]
PRMT7 TTAR2P0 Strong Genetic Variation [200]
RAC1 TT2M9CG Strong Biomarker [201]
RAC3 TT9BQ50 Strong Biomarker [202]
SCN3A TTAXZ0K Strong Biomarker [203]
SCN8A TT54ERL Strong Biomarker [204]
SETD2 TTPC3H4 Strong Biomarker [205]
SLC1A1 TTG2A6F Strong Genetic Variation [206]
SLC1A2 TT2F078 Strong Biomarker [207]
SLC25A1 TTTD730 Strong Genetic Variation [208]
SLC2A1 TT79TKF Strong Biomarker [209]
SLC33A1 TTL69WB Strong Biomarker [210]
SLC6A1 TTPRKM0 Strong Genetic Variation [211]
SLC6A17 TTIMLZ6 Strong Genetic Variation [212]
SLC6A3 TTVBI8W Strong Biomarker [123]
SLC6A8 TTYUHB5 Strong Genetic Variation [141]
SMARCA4 TTVQEZS Strong Biomarker [213]
SOX5 TTXHSZK Strong Biomarker [214]
TAOK1 TTQY9DH Strong Biomarker [215]
TDP2 TTYF26D Strong Genetic Variation [216]
TH TTUHP71 Strong Biomarker [123]
TPP1 TTOVYPT Strong Biomarker [123]
TRIP12 TTG2CRH Strong Genetic Variation [217]
TSPAN7 TTMT6VE Strong Genetic Variation [218]
UBE3A TTUZX6V Strong Biomarker [219]
UMPS TTAFJUD Strong Biomarker [123]
USP44 TTJLTNM Strong Genetic Variation [220]
USP7 TTXU3EQ Strong Genetic Variation [221]
VIP TTGTWLF Strong Biomarker [140]
WT1 TTZ8UT4 Strong Genetic Variation [222]
ZEB2 TTT2WK4 Strong Genetic Variation [223]
CDC42BPA TT5Z0EF Definitive Genetic Variation [224]
CNTF TTGEM5Q Definitive Biomarker [225]
DICER1 TTTEOPU Definitive Biomarker [226]
DNAJB1 TTPXAWS Definitive Genetic Variation [227]
LIMK2 TTASMD8 Definitive Biomarker [228]
NR0B1 TTTK36V Definitive Genetic Variation [229]
SIGMAR1 TT5TPI6 Definitive Biomarker [230]
SLC5A6 TT61XTV Definitive Biomarker [231]
------------------------------------------------------------------------------------
⏷ Show the Full List of 265 DTT(s)
This Disease Is Related to 21 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
CACNA1C DTAIV1Z Limited Autosomal dominant [1]
CACNA1G DTHAQIM Limited Autosomal recessive [1]
SLC25A12 DT85HYR Limited Biomarker [44]
SLC25A5 DTL1TRY Limited X-linked [1]
SLC25A5 DTL1TRY Limited Biomarker [232]
SLC4A10 DT7RYVF Limited Biomarker [233]
SLC50A1 DTI9CQU Limited Genetic Variation [234]
SLC9A6 DTN0JXW Limited Genetic Variation [235]
CACNB4 DTV8E46 Disputed Genetic Variation [236]
ABCA2 DTJ4NEG Strong Genetic Variation [237]
KCNK4 DTK2TVF Strong Biomarker [238]
SLC16A2 DTQ8MP1 Strong Biomarker [239]
SLC1A4 DTC54PX Strong Biomarker [240]
SLC31A1 DTP8L4F Strong Biomarker [113]
SLC35A2 DT0567K Strong Biomarker [123]
SLC39A8 DTLPQGT Strong Genetic Variation [241]
SLC45A1 DTMSNOU Strong Genetic Variation [209]
SLC4A4 DTWDEIL Strong Genetic Variation [242]
SLC9A7 DTQPK6R Strong Biomarker [243]
SLC9C2 DT2N5HO Strong Genetic Variation [244]
TUSC3 DTF6R81 Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------
⏷ Show the Full List of 21 DTP(s)
This Disease Is Related to 24 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ALAS2 DE437BY Limited Biomarker [245]
ASMT DEHGR57 Limited Genetic Variation [246]
CHKB DEHWR6V Limited Genetic Variation [247]
DHCR7 DEL7GFA Limited Biomarker [248]
GLDC DEIN8FB Limited Genetic Variation [249]
HSD17B10 DEGSPC9 Limited Genetic Variation [250]
SCLY DEH4TD6 Limited Genetic Variation [251]
PMM2 DEBRX3L moderate Biomarker [252]
CHDH DEAHED0 Strong Genetic Variation [253]
CYP26B1 DEZT8FM Strong Genetic Variation [254]
G6PC3 DEE1B8O Strong Biomarker [255]
HK1 DEDMAGE Strong Biomarker [135]
INPP4A DEBJ2NL Strong Biomarker [113]
NT5C2 DE1DOKJ Strong Biomarker [256]
PCYT2 DEIX1PO Strong Biomarker [257]
PGM3 DER0EN5 Strong Biomarker [258]
PRODH DEVJIHS Strong Genetic Variation [259]
SPR DEJVDAT Strong Biomarker [260]
SRD5A3 DEZGVDW Strong Biomarker [113]
SULT1E1 DESTKG6 Strong Biomarker [184]
UGP2 DE4U39Y Strong Biomarker [261]
WARS2 DEPTKBQ Strong Genetic Variation [262]
CYB5R3 DE4A3BL Definitive Biomarker [263]
HSD17B12 DE915QP Definitive Biomarker [264]
------------------------------------------------------------------------------------
⏷ Show the Full List of 24 DME(s)

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41 Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.Eur J Med Genet. 2016 Apr;59(4):257-62. doi: 10.1016/j.ejmg.2015.12.002. Epub 2015 Dec 12.
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169 Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.Cerebellum. 2018 Apr;17(2):237-242. doi: 10.1007/s12311-017-0883-4.
170 Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ?1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16. Birth Defects Res A Clin Mol Teratol. 2016 Jan;106(1):61-8. doi: 10.1002/bdra.23463. Epub 2015 Dec 11.
171 Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.Eur J Med Genet. 2019 Sep;62(9):103555. doi: 10.1016/j.ejmg.2018.10.007. Epub 2018 Oct 22.
172 Drosophila Histone Demethylase KDM5 Regulates Social Behavior through Immune Control and Gut Microbiota Maintenance.Cell Host Microbe. 2019 Apr 10;25(4):537-552.e8. doi: 10.1016/j.chom.2019.02.003. Epub 2019 Mar 19.
173 DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation.Eur J Med Genet. 2020 Mar;63(3):103737. doi: 10.1016/j.ejmg.2019.103737. Epub 2019 Aug 13.
174 KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.Br J Ophthalmol. 2016 Feb;100(2):278-83. doi: 10.1136/bjophthalmol-2015-306878. Epub 2015 Oct 15.
175 KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy. Clin Genet. 2017 May;91(5):769-773. doi: 10.1111/cge.12831. Epub 2016 Sep 16.
176 A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia.BMC Med Genet. 2019 Mar 6;20(1):38. doi: 10.1186/s12881-019-0776-0.
177 Heart transplantation in Danon disease: Long term single centre experience and review of the literature.Eur J Med Genet. 2020 Feb;63(2):103645. doi: 10.1016/j.ejmg.2019.04.002. Epub 2019 Apr 5.
178 LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects. J Biol Chem. 2014 Mar 28;289(13):8767-80. doi: 10.1074/jbc.M113.530816. Epub 2014 Feb 11.
179 Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.Genet Med. 2018 Jul;20(7):778-784. doi: 10.1038/gim.2017.113. Epub 2017 Aug 24.
180 Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability.Psychiatr Genet. 2016 Apr;26(2):66-73. doi: 10.1097/YPG.0000000000000114.
181 Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!.Ann Clin Transl Neurol. 2019 Aug;6(8):1572-1577. doi: 10.1002/acn3.50860. Epub 2019 Jul 27.
182 20 ans aprs: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. Eur J Hum Genet. 2014 Jun;22(6):776-83. doi: 10.1038/ejhg.2013.243. Epub 2013 Oct 30.
183 Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.Am J Med Genet A. 2017 Feb;173(2):452-459. doi: 10.1002/ajmg.a.38044. Epub 2016 Nov 14.
184 Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators.Genomics. 1997 Sep 1;44(2):201-13. doi: 10.1006/geno.1997.4867.
185 Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.Hum Genet. 2013 Apr;132(4):461-71. doi: 10.1007/s00439-012-1260-5. Epub 2013 Jan 18.
186 Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.Am J Med Genet A. 2019 Mar;179(3):475-479. doi: 10.1002/ajmg.a.61007. Epub 2018 Dec 19.
187 Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.Am J Med Genet A. 2018 Sep;176(9):1956-1963. doi: 10.1002/ajmg.a.40355. Epub 2018 Aug 8.
188 Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.J Int Med Res. 2018 Jun;46(6):2445-2457. doi: 10.1177/0300060517747164. Epub 2018 Apr 5.
189 Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.Am J Med Genet A. 2018 Dec;176(12):2554-2560. doi: 10.1002/ajmg.a.60677. Epub 2018 Nov 26.
190 Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. J Med Genet. 2004 Oct;41(10):736-42. doi: 10.1136/jmg.2004.021626.
191 Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin.Proc Natl Acad Sci U S A. 2019 Jun 4;116(23):11229-11234. doi: 10.1073/pnas.1902639116. Epub 2019 May 22.
192 Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.Eur J Hum Genet. 2018 Nov;26(11):1611-1622. doi: 10.1038/s41431-018-0135-1. Epub 2018 Jul 13.
193 Expansion of the phenotype of Kosaki overgrowth syndrome.Am J Med Genet A. 2017 Sep;173(9):2422-2427. doi: 10.1002/ajmg.a.38310. Epub 2017 Jun 22.
194 Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.Hum Mol Genet. 2019 Dec 15;28(24):4089-4102. doi: 10.1093/hmg/ddz254.
195 Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. Am J Hum Genet. 2019 Aug 1;105(2):395-402. doi: 10.1016/j.ajhg.2019.06.009. Epub 2019 Jul 25.
196 ER responses play a key role in Swiss-Cheese/Neuropathy Target Esterase-associated neurodegeneration.Neurobiol Dis. 2019 Oct;130:104520. doi: 10.1016/j.nbd.2019.104520. Epub 2019 Jun 22.
197 Defective DNA Polymerase -Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. Am J Hum Genet. 2019 May 2;104(5):957-967. doi: 10.1016/j.ajhg.2019.03.006. Epub 2019 Apr 18.
198 Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon.Brain Dev. 2019 Jun;41(6):538-541. doi: 10.1016/j.braindev.2019.02.007. Epub 2019 Feb 20.
199 De Novo Mutations Affecting the Catalytic C Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.Am J Hum Genet. 2019 Jan 3;104(1):139-156. doi: 10.1016/j.ajhg.2018.12.002. Epub 2018 Dec 27.
200 Further delineation of the phenotype caused by loss of function mutations in PRMT7.Eur J Med Genet. 2019 Mar;62(3):182-185. doi: 10.1016/j.ejmg.2018.07.007. Epub 2018 Jul 10.
201 Conditional Deletion of CC2D1A Reduces Hippocampal Synaptic Plasticity and Impairs Cognitive Function through Rac1 Hyperactivation.J Neurosci. 2019 Jun 19;39(25):4959-4975. doi: 10.1523/JNEUROSCI.2395-18.2019. Epub 2019 Apr 16.
202 De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8.
203 Mutations in SCN3A cause early infantile epileptic encephalopathy. Ann Neurol. 2018 Apr;83(4):703-717. doi: 10.1002/ana.25188. Epub 2018 Mar 30.
204 The spectrum of intermediate SCN8A-related epilepsy.Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10.
205 Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.Am J Med Genet A. 2018 May;176(5):1212-1215. doi: 10.1002/ajmg.a.38666.
206 Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. J Clin Invest. 2011 Jan;121(1):446-53.
207 De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004.
208 Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.Eur J Hum Genet. 2020 Mar;28(3):373-377. doi: 10.1038/s41431-019-0506-2. Epub 2019 Sep 16.
209 Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy. Am J Hum Genet. 2017 May 4;100(5):824-830.
210 Increased expression of AT-1/SLC33A1 causes an autistic-like phenotype in mice by affecting dendritic branching and spine formation.J Exp Med. 2016 Jun 27;213(7):1267-84. doi: 10.1084/jem.20151776. Epub 2016 May 30.
211 A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function.Exp Neurol. 2019 Oct;320:112973. doi: 10.1016/j.expneurol.2019.112973. Epub 2019 Jun 6.
212 Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. Am J Hum Genet. 2015 Mar 5;96(3):386-96. doi: 10.1016/j.ajhg.2015.01.010. Epub 2015 Feb 19.
213 X-linked -thalassemia with mental retardation is downstream of protein kinase A in the meiotic cell cycle signaling cascade in Xenopus oocytes and is dynamically regulated in response to DNA damage?"O'Shea LC. Hensey C."
214 Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3.
215 De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders. Am J Hum Genet. 2019 Jul 3;105(1):213-220. doi: 10.1016/j.ajhg.2019.05.005. Epub 2019 Jun 20.
216 Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).Cerebellum. 2019 Oct;18(5):972-975. doi: 10.1007/s12311-019-01069-7.
217 Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 Apr;136(4):377-386. doi: 10.1007/s00439-017-1763-1. Epub 2017 Mar 1.
218 Tetraspanin 6: A novel regulator of hippocampal synaptic transmission and long term plasticity.PLoS One. 2017 Feb 16;12(2):e0171968. doi: 10.1371/journal.pone.0171968. eCollection 2017.
219 UBE3A regulates the transcription of IRF, an antiviral immunity.Hum Mol Genet. 2019 Jun 15;28(12):1947-1958. doi: 10.1093/hmg/ddz019.
220 Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. Mol Psychiatry. 2018 Apr;23(4):973-984. doi: 10.1038/mp.2017.60. Epub 2017 Apr 11.
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223 A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes.Hum Mol Genet. 2012 Dec 15;21(26):5429-42. doi: 10.1093/hmg/dds389. Epub 2012 Sep 21.
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225 Increased CNTF levels in adults with autism spectrum disorders.World J Biol Psychiatry. 2019 Nov;20(9):742-746. doi: 10.1080/15622975.2018.1481999. Epub 2018 Sep 19.
226 C21orf5, a new member of Dopey family involved in morphogenesis, could participate in neurological alterations and mental retardation in Down syndrome.DNA Res. 2005;12(3):203-10. doi: 10.1093/dnares/dsi004.
227 Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures.Neurogenetics. 2019 May;20(2):109-115. doi: 10.1007/s10048-019-00573-6. Epub 2019 Apr 10.
228 LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability.Neuroscience. 2019 Feb 10;399:199-210. doi: 10.1016/j.neuroscience.2018.12.017. Epub 2018 Dec 27.
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230 SA4503, A Potent Sigma-1 Receptor Ligand, Ameliorates Synaptic Abnormalities and Cognitive Dysfunction in a Mouse Model of ATR-X Syndrome.Int J Mol Sci. 2018 Sep 18;19(9):2811. doi: 10.3390/ijms19092811.
231 Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects.Am J Physiol Cell Physiol. 2018 Jul 1;315(1):C73-C79. doi: 10.1152/ajpcell.00319.2017. Epub 2018 Apr 18.
232 The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.Hum Genet. 2013 Oct;132(10):1177-85. doi: 10.1007/s00439-013-1322-3. Epub 2013 Jun 20.
233 Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation.Arch Neurol. 2008 Apr;65(4):550-3. doi: 10.1001/archneur.65.4.550.
234 Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.Am J Med Genet A. 2013 Sep;161A(9):2369-75. doi: 10.1002/ajmg.a.36103. Epub 2013 Jul 25.
235 Impaired posttranslational processing and trafficking of an endosomal Na+/H+ exchanger NHE6 mutant ((370)WST(372)) associated with X-linked intellectual disability and autism.Neurochem Int. 2014 Jul;73:192-203. doi: 10.1016/j.neuint.2013.09.020. Epub 2013 Sep 30.
236 The (4) subunit of the voltage-gated calcium channel (Cacnb4) regulates the rate of cell proliferation in Chinese Hamster Ovary cells.Int J Biochem Cell Biol. 2017 Aug;89:57-70. doi: 10.1016/j.biocel.2017.05.032. Epub 2017 Jun 3.
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238 Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. Am J Hum Genet. 2018 Oct 4;103(4):621-630. doi: 10.1016/j.ajhg.2018.09.001.
239 The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.Endocrinology. 2015 Nov;156(11):3889-94. doi: 10.1210/en.2015-1234. Epub 2015 Aug 31.
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241 A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.J Inherit Metab Dis. 2017 Mar;40(2):261-269. doi: 10.1007/s10545-016-0010-6. Epub 2016 Dec 19.
242 SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.BMC Med Genet. 2018 Jun 18;19(1):103. doi: 10.1186/s12881-018-0612-y.
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246 Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.BMC Med Genet. 2011 Jan 20;12:17. doi: 10.1186/1471-2350-12-17.
247 Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB.Neuromuscul Disord. 2016 Feb;26(2):160-4. doi: 10.1016/j.nmd.2015.11.002. Epub 2015 Dec 4.
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249 Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.Neurology. 2005 Apr 12;64(7):1255-7. doi: 10.1212/01.WNL.0000156800.23776.40.
250 Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.Am J Hum Genet. 2012 Aug 10;91(2):252-64. doi: 10.1016/j.ajhg.2012.06.010. Epub 2012 Jul 26.
251 Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.Clin Genet. 2015 Feb;87(2):173-8. doi: 10.1111/cge.12347. Epub 2014 Feb 17.
252 Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders.BMC Med Genet. 2019 Nov 14;20(1):181. doi: 10.1186/s12881-019-0902-z.
253 Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy.Front Mol Neurosci. 2018 Jun 15;11:208. doi: 10.3389/fnmol.2018.00208. eCollection 2018.
254 Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes. Am J Med Genet A. 2016 Oct;170(10):2706-10. doi: 10.1002/ajmg.a.37804. Epub 2016 Jul 13.
255 Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.BMC Med Genet. 2012 Nov 21;13:111. doi: 10.1186/1471-2350-13-111.
256 Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.Neurogenetics. 2009 Oct;10(4):325-31. doi: 10.1007/s10048-009-0191-3. Epub 2009 May 5.
257 Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. Brain. 2019 Nov 1;142(11):3382-3397. doi: 10.1093/brain/awz291.
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260 Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.Mol Genet Metab. 2006 Sep-Oct;89(1-2):116-20. doi: 10.1016/j.ymgme.2006.03.010. Epub 2006 May 2.
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262 Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Hum Mutat. 2017 Jun;38(6):621-636. doi: 10.1002/humu.23205. Epub 2017 Mar 23.
263 Cellular and Molecular Mechanisms of Recessive Hereditary Methaemoglobinaemia Type II.J Clin Med. 2018 Oct 10;7(10):341. doi: 10.3390/jcm7100341.
264 Damaging coding variants within kainate receptor channel genes are enriched in individuals with schizophrenia, autism and intellectual disabilities.Sci Rep. 2019 Dec 16;9(1):19215. doi: 10.1038/s41598-019-55635-4.
265 Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 Oct;38(10):1365-1371. doi: 10.1002/humu.23282. Epub 2017 Jul 10.
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274 Expression, purification, and kinetic characterization of recombinant human adenylosuccinate lyase.J Biol Chem. 1993 Sep 15;268(26):19710-6.
275 Evolution of ASPM coding variation in apes and associations with brain structure in chimpanzees.Genes Brain Behav. 2019 Sep;18(7):e12582. doi: 10.1111/gbb.12582. Epub 2019 Jun 11.
276 Vaccine Coverage among Children with and without Intellectual Disabilities in the UK: Cross Sectional Study.BMC Public Health. 2019 Jun 13;19(1):748. doi: 10.1186/s12889-019-7106-5.
277 A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.J Med Genet. 2016 Aug;53(8):523-32. doi: 10.1136/jmedgenet-2015-103601. Epub 2016 Apr 13.
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281 De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.Ann Clin Transl Neurol. 2018 Jan 29;5(3):280-296. doi: 10.1002/acn3.528. eCollection 2018 Mar.
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288 Species-Specific Expression of Full-Length and Alternatively Spliced Variant Forms of CDK5RAP2.PLoS One. 2015 Nov 9;10(11):e0142577. doi: 10.1371/journal.pone.0142577. eCollection 2015.
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290 Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.Metab Brain Dis. 2016 Aug;31(4):901-7. doi: 10.1007/s11011-016-9827-9. Epub 2016 Apr 28.
291 Homozygous microdeletion of the POU1F1, CHMP2B, and VGLL3 genes in chromosome 3--a novel syndrome.Am J Med Genet A. 2011 Sep;155A(9):2242-6. doi: 10.1002/ajmg.a.34136. Epub 2011 Aug 3.
292 tSNP-based identification of allelic loss of gene expression in a patient with a balanced chromosomal rearrangement.Genomics. 2007 Apr;89(4):562-5. doi: 10.1016/j.ygeno.2006.12.006. Epub 2007 Jan 22.
293 De novo variants in CNOT3 cause a variable neurodevelopmental disorder.Eur J Hum Genet. 2019 Nov;27(11):1677-1682. doi: 10.1038/s41431-019-0413-6. Epub 2019 Jun 14.
294 Disrupted AMPA Receptor Function upon Genetic- or Antibody-Mediated Loss of Autism-Associated CASPR2.Cereb Cortex. 2019 Dec 17;29(12):4919-4931. doi: 10.1093/cercor/bhz032.
295 A possible cranio-oro-facial phenotype in Cockayne syndrome.Orphanet J Rare Dis. 2013 Jan 14;8:9. doi: 10.1186/1750-1172-8-9.
296 Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.Am J Med Genet A. 2004 Dec 1;131(2):200-3. doi: 10.1002/ajmg.a.30374.
297 A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.Neurogenetics. 2019 Aug;20(3):129-143. doi: 10.1007/s10048-019-00578-1. Epub 2019 Apr 30.
298 A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.Am J Med Genet A. 2017 Oct;173(10):2803-2807. doi: 10.1002/ajmg.a.38390. Epub 2017 Aug 17.
299 Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.Am J Med Genet A. 2017 Mar;173(3):588-595. doi: 10.1002/ajmg.a.38064. Epub 2017 Jan 27.
300 Autism and Schizophrenia-Associated CYFIP1 Regulates the Balance of Synaptic Excitation and Inhibition.Cell Rep. 2019 Feb 19;26(8):2037-2051.e6. doi: 10.1016/j.celrep.2019.01.092.
301 Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene.Ann Neurol. 2001 Oct;50(4):540-3. doi: 10.1002/ana.1224.
302 Identification of a novel basic helix-loop-helix-PAS factor, NXF, reveals a Sim2 competitive, positive regulatory role in dendritic-cytoskeleton modulator drebrin gene expression.Mol Cell Biol. 2004 Jan;24(2):608-16. doi: 10.1128/MCB.24.2.608-616.2004.
303 DIA1R is an X-linked gene related to Deleted In Autism-1.PLoS One. 2011 Jan 17;6(1):e14534. doi: 10.1371/journal.pone.0014534.
304 Neuropsychological functioning of siblings of children with autism, siblings of children with developmental language delay, and siblings of children with mental retardation of unknown genetic etiology.J Autism Dev Disord. 2007 Mar;37(3):537-52. doi: 10.1007/s10803-006-0185-z.
305 Nuclear import of the DSCAM-cytoplasmic domain drives signaling capable of inhibiting synapse formation.EMBO J. 2019 Mar 15;38(6):e99669. doi: 10.15252/embj.201899669. Epub 2019 Feb 11.
306 A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant.Neurol Neurochir Pol. 2018 Mar;52(2):293-297. doi: 10.1016/j.pjnns.2017.12.004. Epub 2017 Dec 14.
307 Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability.BMC Med Genomics. 2018 Apr 23;11(1):41. doi: 10.1186/s12920-018-0358-6.
308 Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation.Am J Med Genet A. 2007 Nov 15;143A(22):2738-43. doi: 10.1002/ajmg.a.32017.
309 EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.Clin Genet. 2018 Jun;93(6):1141-1147. doi: 10.1111/cge.13234. Epub 2018 Mar 15.
310 Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.Pediatr Neurol. 2012 Jun;46(6):363-8. doi: 10.1016/j.pediatrneurol.2012.03.014.
311 Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.Am J Med Genet. 1998 Jun 16;78(1):82-9. doi: 10.1002/(sici)1096-8628(19980616)78:1<82::aid-ajmg17>3.0.co;2-k.
312 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet. 2011 Mar 11;88(3):306-16. doi: 10.1016/j.ajhg.2011.02.001. Epub 2011 Mar 3.
313 Eps8 controls dendritic spine density and synaptic plasticity through its actin-capping activity.EMBO J. 2013 Jun 12;32(12):1730-44. doi: 10.1038/emboj.2013.107. Epub 2013 May 17.
314 Lethality in yeast of trichothiodystrophy (TTD) mutations in the human xeroderma pigmentosum group D gene. Implications for transcriptional defect in TTD.J Biol Chem. 1995 Jul 28;270(30):17660-3. doi: 10.1074/jbc.270.30.17660.
315 Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation.Am J Med Genet A. 2017 Jul;173(7):1955-1960. doi: 10.1002/ajmg.a.38271. Epub 2017 May 9.
316 Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16.
317 De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation.Eur J Med Genet. 2009 Nov-Dec;52(6):450-3. doi: 10.1016/j.ejmg.2009.06.004. Epub 2009 Jul 1.
318 Variantrecurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.Genet Med. 2019 Nov;21(11):2504-2511. doi: 10.1038/s41436-019-0518-x. Epub 2019 Apr 30.
319 Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7.Am J Med Genet A. 2012 Jul;158A(7):1680-5. doi: 10.1002/ajmg.a.35367. Epub 2012 May 24.
320 De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7. doi: 10.1016/j.ejmg.2012.03.003. Epub 2012 Apr 12.
321 Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.J Med Genet. 2013 Mar;50(3):163-73. doi: 10.1136/jmedgenet-2012-101288. Epub 2013 Jan 18.
322 Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.Am J Med Genet A. 2011 Jan;155A(1):106-12. doi: 10.1002/ajmg.a.33715. Epub 2010 Dec 15.
323 Conserved regulation of neurodevelopmental processes and behavior by FoxP in Drosophila.PLoS One. 2019 Feb 12;14(2):e0211652. doi: 10.1371/journal.pone.0211652. eCollection 2019.
324 Hydroxysteroid (17) dehydrogenase X in human health and disease.Mol Cell Endocrinol. 2011 Aug 22;343(1-2):1-6. doi: 10.1016/j.mce.2011.06.011. Epub 2011 Jun 25.
325 A novel role for the RNA-binding protein FXR1P in myoblasts cell-cycle progression by modulating p21/Cdkn1a/Cip1/Waf1 mRNA stability.PLoS Genet. 2013 Mar;9(3):e1003367. doi: 10.1371/journal.pgen.1003367. Epub 2013 Mar 21.
326 Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.Hum Mol Genet. 1998 Aug;7(8):1311-5. doi: 10.1093/hmg/7.8.1311.
327 Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.Clin Genet. 2017 Aug;92(2):188-198. doi: 10.1111/cge.12985. Epub 2017 Mar 1.
328 Mutations and phenotype in isolated glycerol kinase deficiency.Am J Hum Genet. 1996 Jun;58(6):1205-11.
329 Early menopause in women with Down's syndrome.J Intellect Disabil Res. 1997 Jun;41 ( Pt 3):264-7. doi: 10.1111/j.1365-2788.1997.tb00706.x.
330 Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.Neuromuscul Disord. 2017 Jul;27(7):627-630. doi: 10.1016/j.nmd.2017.04.006. Epub 2017 Apr 18.
331 Intellectual disability and hemizygous GPD2 mutation.Am J Med Genet A. 2013 May;161A(5):1044-50. doi: 10.1002/ajmg.a.35873. Epub 2013 Mar 29.
332 GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.Am J Med Genet A. 2003 Nov 15;123A(1):45-59. doi: 10.1002/ajmg.a.20496.
333 Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.Neurology. 2018 Apr 17;90(16):e1395-e1403. doi: 10.1212/WNL.0000000000005334. Epub 2018 Mar 21.
334 Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.Am J Med Genet A. 2010 May;152A(5):1244-9. doi: 10.1002/ajmg.a.33369.
335 Intellectual disability-associated dBRWD3 regulates gene expression through inhibition of HIRA/YEM-mediated chromatin deposition of histone H3.3.EMBO Rep. 2015 Apr;16(4):528-38. doi: 10.15252/embr.201439092. Epub 2015 Feb 9.
336 Expanding the phenotype of intellectual disability caused by HIVEP2 variants.Am J Med Genet A. 2019 Sep;179(9):1872-1877. doi: 10.1002/ajmg.a.61271. Epub 2019 Jun 17.
337 X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome.Am J Ophthalmol. 1971 May;71(5):1128-33. doi: 10.1016/0002-9394(71)90588-5.
338 Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.Ophthalmic Genet. 2011 Nov;32(4):212-6. doi: 10.3109/13816810.2011.574186. Epub 2011 Apr 21.
339 Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13.Am J Med Genet A. 2005 Jun 1;135(2):211-3. doi: 10.1002/ajmg.a.30728.
340 Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.Eur J Med Genet. 2014 Mar;57(4):163-8. doi: 10.1016/j.ejmg.2014.02.001. Epub 2014 Feb 11.
341 Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.Pediatr Diabetes. 2014 May;15(3):252-6. doi: 10.1111/pedi.12086. Epub 2013 Oct 21.
342 The Synaptic and Neuronal Functions of the X-Linked Intellectual Disability Protein Interleukin-1 Receptor Accessory Protein Like 1 (IL1RAPL1).Dev Neurobiol. 2019 Jan;79(1):85-95. doi: 10.1002/dneu.22657. Epub 2018 Dec 21.
343 De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.Neurology. 2013 Nov 26;81(22):1953-8. doi: 10.1212/01.wnl.0000436615.58705.c9. Epub 2013 Oct 30.
344 INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family.Clin Genet. 2018 Mar;93(3):682-686. doi: 10.1111/cge.13143. Epub 2018 Feb 5.
345 A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay.Am J Med Genet A. 2014 Apr;164A(4):1021-8. doi: 10.1002/ajmg.a.36377. Epub 2014 Jan 23.
346 Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.Am J Med Genet A. 2016 Nov;170(11):2916-2926. doi: 10.1002/ajmg.a.37669.
347 Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree.Hum Genomics. 2016 Jul 16;10(1):26. doi: 10.1186/s40246-016-0082-2.
348 KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.PLoS One. 2018 Jan 19;13(1):e0191546. doi: 10.1371/journal.pone.0191546. eCollection 2018.
349 A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies.Mol Psychiatry. 2018 Mar;23(3):713-722. doi: 10.1038/mp.2017.54. Epub 2017 Apr 4.
350 KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradation.Mol Cell Proteomics. 2015 Mar;14(3):674-85. doi: 10.1074/mcp.M114.042168. Epub 2015 Jan 12.
351 An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.Hum Genet. 2016 Jul;135(7):757-71. doi: 10.1007/s00439-016-1668-4. Epub 2016 Apr 22.
352 Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. J Med Genet. 2014 Jul;51(7):487-94. doi: 10.1136/jmedgenet-2013-102182. Epub 2014 May 8.
353 Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation.J Med Genet. 2002 Feb;39(2):113-7. doi: 10.1136/jmg.39.2.113.
354 Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients.Neuromuscul Disord. 2003 Jan;13(1):4-12. doi: 10.1016/s0960-8966(02)00188-8.
355 Nol9 Is a Spatial Regulator for the Human ITS2 Pre-rRNA Endonuclease-Kinase Complex.J Mol Biol. 2019 Sep 6;431(19):3771-3786. doi: 10.1016/j.jmb.2019.07.007. Epub 2019 Jul 6.
356 LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome.PLoS One. 2014 Mar 21;9(3):e92695. doi: 10.1371/journal.pone.0092695. eCollection 2014.
357 Primate segmental duplication creates novel promoters for the LRRC37 gene family within the 17q21.31 inversion polymorphism region.Genome Res. 2012 Jun;22(6):1050-8. doi: 10.1101/gr.134098.111. Epub 2012 Mar 14.
358 Generation and characterization of pathogenic Mab21l2(R51C) mouse model.Genesis. 2018 Dec;56(11-12):e23261. doi: 10.1002/dvg.23261. Epub 2018 Nov 29.
359 Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence.PLoS One. 2016 Jun 29;11(6):e0157739. doi: 10.1371/journal.pone.0157739. eCollection 2016.
360 [Research in mixed amalgam-composite restorations].Attual Dent. 1989 Jan 8;5(1):10-4, 16-8, 20-2.
361 MBOAT7 is anchored to endomembranes by six transmembrane domains.J Struct Biol. 2019 Jun 1;206(3):349-360. doi: 10.1016/j.jsb.2019.04.006. Epub 2019 Apr 5.
362 The E3 ubiquitin ligase MID1/TRIM18 promotes atypical ubiquitination of the BRCA2-associated factor 35, BRAF35.Biochim Biophys Acta Mol Cell Res. 2017 Oct;1864(10):1844-1854. doi: 10.1016/j.bbamcr.2017.07.014. Epub 2017 Jul 29.
363 Genetic diseases of acid-base transporters.Annu Rev Physiol. 2002;64:899-923. doi: 10.1146/annurev.physiol.64.092801.141759.
364 MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.Am J Med Genet A. 2011 Nov;155A(11):2739-45. doi: 10.1002/ajmg.a.34274. Epub 2011 Oct 11.
365 Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.Am J Med Genet A. 2018 Feb;176(2):431-437. doi: 10.1002/ajmg.a.38543. Epub 2017 Nov 23.
366 Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.Am J Med Genet A. 2016 Sep;170(9):2310-21. doi: 10.1002/ajmg.a.37831. Epub 2016 Jul 4.
367 NDST1 missense mutations in autosomal recessive intellectual disability. Am J Med Genet A. 2014 Nov;164A(11):2753-63. doi: 10.1002/ajmg.a.36723. Epub 2014 Aug 14.
368 Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.J Hum Genet. 2014 Dec;59(12):643-7. doi: 10.1038/jhg.2014.87. Epub 2014 Oct 9.
369 A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation.Neurosci Lett. 2011 Mar 17;491(2):118-21. doi: 10.1016/j.neulet.2011.01.019. Epub 2011 Jan 12.
370 NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018 Nov 1;103(5):752-768. doi: 10.1016/j.ajhg.2018.10.006.
371 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.Eur J Hum Genet. 2018 Jan;26(1):85-93. doi: 10.1038/s41431-017-0037-7. Epub 2017 Nov 28.
372 To what extent are midwives adapting antenatal information for pregnant women with intellectual disabilities? A survey of NHS trusts in England.Public Health. 2018 May;158:25-30. doi: 10.1016/j.puhe.2018.01.034. Epub 2018 Mar 11.
373 Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region.Am J Med Genet A. 2005 Jan 1;132A(1):84-9. doi: 10.1002/ajmg.a.30384.
374 Analysis of the neuroligin 4Y gene in patients with autism.Psychiatr Genet. 2008 Aug;18(4):204-7. doi: 10.1097/YPG.0b013e3282fb7fe6.
375 De novo duplication of Xq22.1q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure.Taiwan J Obstet Gynecol. 2011 Sep;50(3):339-44. doi: 10.1016/j.tjog.2011.01.018.
376 Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.Am J Med Genet. 2000 May 1;92(1):40-6. doi: 10.1002/(sici)1096-8628(20000501)92:1<40::aid-ajmg7>3.0.co;2-r.
377 De novo NSF mutations cause early infantile epileptic encephalopathy. Ann Clin Transl Neurol. 2019 Nov;6(11):2334-2339. doi: 10.1002/acn3.50917. Epub 2019 Nov 1.
378 NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.Elife. 2015 Aug 27;4:e10782. doi: 10.7554/eLife.10782.
379 hnRNP Q Regulates Internal Ribosome Entry Site-Mediated fmr1 Translation in Neurons.Mol Cell Biol. 2019 Feb 4;39(4):e00371-18. doi: 10.1128/MCB.00371-18. Print 2019 Feb 15.
380 Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol. 2006 Aug;60(2):214-22. doi: 10.1002/ana.20902.
381 Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.J Med Genet. 2007 Oct;44(10):629-36. doi: 10.1136/jmg.2007.050914. Epub 2007 Jun 29.
382 The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.Mol Genet Genomic Med. 2019 Sep;7(9):e911. doi: 10.1002/mgg3.911. Epub 2019 Aug 1.
383 A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability.FEBS Lett. 2020 Feb;594(4):717-727. doi: 10.1002/1873-3468.13640. Epub 2019 Nov 7.
384 Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.Neurogenetics. 2006 Mar;7(1):59-66. doi: 10.1007/s10048-005-0026-9. Epub 2006 Jan 20.
385 12q24.33 deletion: report of a patient with intellectual disability and review of the literature.Am J Med Genet A. 2013 Jun;161A(6):1409-13. doi: 10.1002/ajmg.a.35877. Epub 2013 Apr 23.
386 Schuurs-Hoeijmakers syndrome in a patient from India.Am J Med Genet A. 2019 Apr;179(4):522-524. doi: 10.1002/ajmg.a.61058. Epub 2019 Jan 28.
387 Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.Eur J Hum Genet. 2005 May;13(5):541-6. doi: 10.1038/sj.ejhg.5201339.
388 Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.Clin Genet. 2004 Jul;66(1):46-52. doi: 10.1111/j.0009-9163.2004.00276.x.
389 Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.Pediatr Res. 1998 May;43(5):579-84. doi: 10.1203/00006450-199805000-00004.
390 A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?.Eur J Med Genet. 2012 Apr;55(4):274-7. doi: 10.1016/j.ejmg.2012.02.010. Epub 2012 Mar 6.
391 Gene structure and genetic localization of the PCLO gene encoding the presynaptic active zone protein Piccolo.Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):161-71. doi: 10.1016/s0736-5748(02)00046-1.
392 Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):594-603. doi: 10.1167/iovs.16-21026.
393 Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability.J Mol Neurosci. 2019 Dec;69(4):538-545. doi: 10.1007/s12031-019-01376-y. Epub 2019 Aug 14.
394 PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.Life Sci Alliance. 2019 Mar 11;2(2):e201900353. doi: 10.26508/lsa.201900353. Print 2019 Apr.
395 Identification of genes expressed in the amygdala during the formation of fear memory.Learn Mem. 2001 Jul-Aug;8(4):209-19. doi: 10.1101/lm.39401.
396 Role of phosphoinositide-specific phospholipase C 2 in isolated and syndromic mental retardation.Eur Neurol. 2011;65(5):264-9. doi: 10.1159/000327307. Epub 2011 Apr 8.
397 Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.Arch Neurol. 2008 Jan;65(1):137-41. doi: 10.1001/archneurol.2007.2.
398 Positive association between POU1F1 and mental retardation in young females in the Chinese Han population.Hum Mol Genet. 2006 Apr 1;15(7):1237-43. doi: 10.1093/hmg/ddl039. Epub 2006 Feb 27.
399 A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.BMC Med Genet. 2015 Sep 1;16:74. doi: 10.1186/s12881-015-0220-z.
400 Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.Hum Mol Genet. 2015 Nov 15;24(22):6293-300. doi: 10.1093/hmg/ddv337. Epub 2015 Aug 24.
401 PPP2R2C, a gene disrupted in autosomal dominant intellectual disability.Eur J Med Genet. 2010 Sep-Oct;53(5):239-43. doi: 10.1016/j.ejmg.2010.06.006. Epub 2010 Jun 23.
402 Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.Cytogenet Genome Res. 2008;122(2):181-7. doi: 10.1159/000172086. Epub 2008 Dec 18.
403 Altered kynurenine pathway metabolites in a mouse model of human attention-deficit hyperactivity/autism spectrum disorders: A potential new biological diagnostic marker.Sci Rep. 2019 Sep 12;9(1):13182. doi: 10.1038/s41598-019-49781-y.
404 Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):10-20. doi: 10.1002/ajmg.b.32574. Epub 2017 Oct 9.
405 Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). BMJ Case Rep. 2009;2009:bcr05.2009.1889. doi: 10.1136/bcr.05.2009.1889. Epub 2009 Jun 9.
406 Sublethal endoplasmic reticulum stress caused by the mutation of immunoglobulin heavy chain-binding protein inducesthe synthesis of a mitochondrial protein, pyrroline-5-carboxylate reductase 1.Cell Stress Chaperones. 2017 Jan;22(1):77-85. doi: 10.1007/s12192-016-0741-1. Epub 2016 Oct 28.
407 Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb;173(2):460-470. doi: 10.1002/ajmg.a.38049. Epub 2016 Nov 11.
408 Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. Am J Med Genet A. 2010 Feb;152A(2):319-26. doi: 10.1002/ajmg.a.33202.
409 Rabs, Membrane Dynamics, and Parkinson's Disease.J Cell Physiol. 2017 Jul;232(7):1626-1633. doi: 10.1002/jcp.25713. Epub 2016 Dec 20.
410 Variants in the RAB3A gene are not associated with mental retardation in the Chinese population.Neurosci Lett. 2006 Jun 19;401(1-2):114-8. doi: 10.1016/j.neulet.2006.02.079. Epub 2006 Apr 11.
411 Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.Am J Hum Genet. 1990 Apr;46(4):738-43.
412 Rbfox1 up-regulation impairs BDNF-dependent hippocampal LTP by dysregulating TrkB isoform expression levels.Elife. 2019 Aug 20;8:e49673. doi: 10.7554/eLife.49673.
413 ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.Eur J Endocrinol. 2010 Jun;162(6):1021-5. doi: 10.1530/EJE-10-0077. Epub 2010 Mar 15.
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431 SHANK1 Deletions in Males with Autism Spectrum Disorder.Am J Hum Genet. 2012 May 4;90(5):879-87. doi: 10.1016/j.ajhg.2012.03.017. Epub 2012 Apr 12.
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438 Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.Eur J Hum Genet. 2012 Jul;20(7):796-800. doi: 10.1038/ejhg.2011.271. Epub 2012 Jan 18.
439 CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation.Neuron. 2013 Sep 18;79(6):1169-82. doi: 10.1016/j.neuron.2013.06.039.
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441 Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Hum Mol Genet. 2013 Nov 15;22(22):4638-45. doi: 10.1093/hmg/ddt312. Epub 2013 Jul 10.
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443 Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.J Med Genet. 2013 Dec;50(12):802-11. doi: 10.1136/jmedgenet-2013-101644. Epub 2013 Oct 11.
444 Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.Hum Mutat. 2019 Oct 23:10.1002/humu.23936. doi: 10.1002/humu.23936. Online ahead of print.
445 Purification and mutagenesis studies of TANC1 ankyrin repeats domain provide clues to understand mis-sense variants from diseases.Biochem Biophys Res Commun. 2019 Jun 25;514(2):358-364. doi: 10.1016/j.bbrc.2019.04.151. Epub 2019 Apr 27.
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447 TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.Eur J Hum Genet. 2006 Oct;14(10):1090-6. doi: 10.1038/sj.ejhg.5201674. Epub 2006 Jun 14.
448 Mutations in TBR1 gene leads to cortical malformations and intellectual disability. Eur J Med Genet. 2018 Dec;61(12):759-764. doi: 10.1016/j.ejmg.2018.09.012. Epub 2018 Sep 27.
449 Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.Eur J Hum Genet. 2006 Dec;14(12):1274-9. doi: 10.1038/sj.ejhg.5201696. Epub 2006 Aug 9.
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453 A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.Am J Med Genet A. 2019 Jul;179(7):1338-1345. doi: 10.1002/ajmg.a.61168. Epub 2019 May 18.
454 Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island.Nat Genet. 1996 May;13(1):109-13. doi: 10.1038/ng0596-109.
455 Homozygous deletion of Tenascin-R in a patient with intellectual disability.J Med Genet. 2012 Jul;49(7):451-4. doi: 10.1136/jmedgenet-2012-100831. Epub 2012 Jun 22.
456 A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features. Sci Rep. 2018 Feb 1;8(1):2053. doi: 10.1038/s41598-018-20658-w.
457 Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family.Front Genet. 2019 Oct 29;10:1060. doi: 10.3389/fgene.2019.01060. eCollection 2019.
458 Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus.Clin Genet. 2013 Mar;83(3):251-6. doi: 10.1111/j.1399-0004.2012.01905.x. Epub 2012 Jul 5.
459 A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability.EBioMedicine. 2019 Jul;45:408-421. doi: 10.1016/j.ebiom.2019.06.035. Epub 2019 Jun 27.
460 Implementing the adapted physical education E-learning program into physical education teacher education program.Res Dev Disabil. 2017 Oct;69:18-29. doi: 10.1016/j.ridd.2017.07.001. Epub 2017 Aug 8.
461 Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms : A Comprehensive Access Control Scheme Applied to the GENIDA Project - Study of Genetic Forms of Intellectual Disabilities and Autism Spectrum Disorders.J Med Syst. 2017 Nov 16;42(1):1. doi: 10.1007/s10916-017-0844-y.
462 Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.Hum Genet. 2017 Feb;136(2):179-192. doi: 10.1007/s00439-016-1743-x. Epub 2016 Nov 15.
463 De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23.
464 Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q(10) Deficiency.Stem Cells. 2017 Jul;35(7):1687-1703. doi: 10.1002/stem.2634. Epub 2017 May 23.
465 Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders.PLoS One. 2011 Jan 19;6(1):e14547. doi: 10.1371/journal.pone.0014547.
466 Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.Genome Med. 2017 Jul 19;9(1):67. doi: 10.1186/s13073-017-0452-y.
467 Dynamic Regulation of Hypothalamic DMXL2, KISS1, and RFRP Expression During Postnatal Development in Non-Human Primates.Mol Neurobiol. 2017 Dec;54(10):8447-8457. doi: 10.1007/s12035-016-0329-x. Epub 2016 Dec 12.
468 DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.Hum Mutat. 2015 Jun;36(6):593-8. doi: 10.1002/humu.22795. Epub 2015 Apr 21.
469 DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.Neurology. 2014 May 20;82(20):1822-30. doi: 10.1212/WNL.0000000000000435. Epub 2014 Apr 23.
470 Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.Clin Genet. 2019 Jan;95(1):165-171. doi: 10.1111/cge.13458. Epub 2018 Oct 24.
471 Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants.Clin Genet. 2018 Jun;93(6):1254-1256. doi: 10.1111/cge.13194. Epub 2018 Jan 25.
472 Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions.Birth Defects Res A Clin Mol Teratol. 2016 Jan;106(1):16-26. doi: 10.1002/bdra.23458. Epub 2015 Dec 17.
473 Synaptic Targeting and Function of SAPAPs Mediated by Phosphorylation-Dependent Binding to PSD-95 MAGUKs.Cell Rep. 2017 Dec 26;21(13):3781-3793. doi: 10.1016/j.celrep.2017.11.107.
474 Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case.Gene. 2014 Apr 1;538(2):373-8. doi: 10.1016/j.gene.2014.01.050. Epub 2014 Jan 29.
475 Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.Am J Med Genet A. 2020 Jan;182(1):183-188. doi: 10.1002/ajmg.a.61388. Epub 2019 Oct 31.
476 The immunoglobulin-like superfamily member IGSF3 is a developmentally regulated protein that controls neuronal morphogenesis.Dev Neurobiol. 2017 Jan;77(1):75-92. doi: 10.1002/dneu.22412. Epub 2016 Jul 8.
477 Familial KANK1 deletion that does not follow expected imprinting pattern.Eur J Med Genet. 2013 May;56(5):256-9. doi: 10.1016/j.ejmg.2013.02.006. Epub 2013 Feb 27.
478 Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.Sci Rep. 2017 Jul 18;7(1):5679. doi: 10.1038/s41598-017-06033-1.
479 Biallelic variants in KIF14 cause intellectual disability with microcephaly.Eur J Hum Genet. 2018 Mar;26(3):330-339. doi: 10.1038/s41431-017-0088-9. Epub 2018 Jan 17.
480 Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome.Am J Med Genet A. 2015 Aug;167A(8):1913-5. doi: 10.1002/ajmg.a.37105. Epub 2015 Apr 5.
481 Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).Nephrol Dial Transplant. 2008 Apr;23(4):1291-7. doi: 10.1093/ndt/gfm759. Epub 2007 Dec 8.
482 Expanding the genetic heterogeneity of intellectual disability.Hum Genet. 2017 Nov;136(11-12):1419-1429. doi: 10.1007/s00439-017-1843-2. Epub 2017 Sep 22.
483 Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.Am J Med Genet A. 2018 Mar;176(3):707-711. doi: 10.1002/ajmg.a.38606. Epub 2018 Jan 23.
484 Type 2 diabetes and glucose intolerance in a population with intellectual disabilities: the STOP diabetes cross-sectional screening study.J Intellect Disabil Res. 2017 Jul;61(7):668-681. doi: 10.1111/jir.12380. Epub 2017 May 21.
485 Phenotype analysis impacts testing strategy in patients with Currarino syndrome.Clin Genet. 2016 Jan;89(1):109-14. doi: 10.1111/cge.12572. Epub 2015 Mar 15.
486 New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.BMC Med Genomics. 2018 Sep 29;11(1):87. doi: 10.1186/s12920-018-0405-3.
487 Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.Mol Genet Metab. 2017 Aug;121(4):325-328. doi: 10.1016/j.ymgme.2017.06.004. Epub 2017 Jun 17.
488 Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.Neurology. 2006 Mar 28;66(6):925-7. doi: 10.1212/01.wnl.0000203500.63884.39.
489 1q24 deletion syndrome. Two cases and new insights into genotype-phenotype correlations.Am J Med Genet A. 2018 Sep;176(9):2004-2008. doi: 10.1002/ajmg.a.40426. Epub 2018 Aug 6.
490 Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.Mol Vis. 2010 Apr 3;16:582-5.
491 SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.J Hum Genet. 2016 Apr;61(4):335-43. doi: 10.1038/jhg.2015.154. Epub 2016 Jan 7.
492 Rab23 and developmental disorders.Rev Neurosci. 2018 Nov 27;29(8):849-860. doi: 10.1515/revneuro-2017-0110.
493 A study of oxidative stress and the newer antiepileptic drugs in epilepsy associated with severe motor and intellectual disabilities.J Chin Med Assoc. 2017 Jan;80(1):19-28. doi: 10.1016/j.jcma.2016.10.005. Epub 2016 Nov 23.
494 Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.J Pediatr. 2013 Mar;162(3):612-7. doi: 10.1016/j.jpeds.2012.08.042. Epub 2012 Oct 12.
495 Mental deficiency in three families with SPG4 spastic paraplegia.Eur J Hum Genet. 2008 Jan;16(1):97-104. doi: 10.1038/sj.ejhg.5201922. Epub 2007 Oct 24.
496 Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb.Hum Mol Genet. 2016 Dec 1;25(23):5198-5211. doi: 10.1093/hmg/ddw340.
497 A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.Am J Med Genet A. 2017 Oct;173(10):2690-2696. doi: 10.1002/ajmg.a.38391. Epub 2017 Aug 4.
498 Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.Am J Med Genet A. 2017 Jun;173(6):1601-1606. doi: 10.1002/ajmg.a.38240.
499 A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility.Hum Mol Genet. 2017 Dec 1;26(23):4699-4714. doi: 10.1093/hmg/ddx352.
500 Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.Eur J Hum Genet. 2007 Jun;15(6):658-63. doi: 10.1038/sj.ejhg.5201819. Epub 2007 Mar 21.
501 Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.Transl Psychiatry. 2012 Oct 23;2(10):e179. doi: 10.1038/tp.2012.102.
502 Some children with autism have latent social skills that can be tested.Neuropsychiatr Dis Treat. 2017 Mar 16;13:827-833. doi: 10.2147/NDT.S131661. eCollection 2017.
503 Drosophila homolog of the intellectual disability-related long-chain acyl-CoA synthetase 4 is required for neuroblast proliferation.J Genet Genomics. 2019 Jan 20;46(1):5-17. doi: 10.1016/j.jgg.2018.10.006. Epub 2018 Dec 26.
504 Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.Am J Hum Genet. 2018 Sep 6;103(3):431-439. doi: 10.1016/j.ajhg.2018.07.010. Epub 2018 Aug 9.
505 Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.Eur J Med Genet. 2019 Jun;62(6):103537. doi: 10.1016/j.ejmg.2018.09.004. Epub 2018 Sep 11.
506 Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. Am J Hum Genet. 2019 Nov 7;105(5):1016-1022. doi: 10.1016/j.ajhg.2019.09.020. Epub 2019 Oct 17.
507 AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism. Ann N Y Acad Sci. 2014 May;1314:55-63. doi: 10.1111/nyas.12426. Epub 2014 Apr 22.
508 A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.Am J Med Genet A. 2018 Apr;176(4):985-991. doi: 10.1002/ajmg.a.38628. Epub 2018 Feb 12.
509 A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation.Am J Gastroenterol. 2001 Oct;96(10):3016-20. doi: 10.1111/j.1572-0241.2001.04674.x.
510 Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability.Am J Med Genet A. 2019 May;179(5):808-812. doi: 10.1002/ajmg.a.61075. Epub 2019 Mar 5.
511 In vivo epigenetic editing of Sema6a promoter reverses transcallosal dysconnectivity caused by C11orf46/Arl14ep risk gene.Nat Commun. 2019 Sep 11;10(1):4112. doi: 10.1038/s41467-019-12013-y.
512 De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29.
513 Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.Am J Med Genet A. 2018 Mar;176(3):715-721. doi: 10.1002/ajmg.a.38615. Epub 2018 Jan 31.
514 New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families.Arch Iran Med. 2015 Mar;18(3):179-84.
515 Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11.
516 A current view on contactin-4, -5, and -6: Implications in neurodevelopmental disorders.Mol Cell Neurosci. 2017 Jun;81:72-83. doi: 10.1016/j.mcn.2016.12.004. Epub 2017 Jan 5.
517 A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J Med Genet. 2013 Jul;50(7):431-6. doi: 10.1136/jmedgenet-2013-101527. Epub 2013 Apr 20.
518 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A. 2012 Jul;158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7.
519 Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur J Hum Genet. 2017 Jun;25(7):889-893. doi: 10.1038/ejhg.2017.52. Epub 2017 Apr 19.
520 A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing.Am J Med Genet A. 2020 Mar;182(3):543-547. doi: 10.1002/ajmg.a.61442. Epub 2019 Dec 8.
521 De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017 Nov 2;101(5):716-724. doi: 10.1016/j.ajhg.2017.09.014.
522 CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. Am J Hum Genet. 2007 Feb;80(2):221-31. doi: 10.1086/510800. Epub 2006 Dec 12.
523 Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia.Mol Psychiatry. 2018 May;23(5):1270-1277. doi: 10.1038/mp.2017.115. Epub 2017 Jun 20.
524 Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation. Eur J Med Genet. 2013 Sep;56(9):484-9. doi: 10.1016/j.ejmg.2013.06.008. Epub 2013 Jul 5.
525 Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. Am J Hum Genet. 2019 Jun 6;104(6):1073-1087. doi: 10.1016/j.ajhg.2019.04.002. Epub 2019 May 9.
526 New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.Clin Genet. 2020 Apr;97(4):639-643. doi: 10.1111/cge.13688. Epub 2020 Jan 7.
527 Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism.Eur J Hum Genet. 2016 Jan;24(1):59-65. doi: 10.1038/ejhg.2015.69. Epub 2015 Apr 22.
528 Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology.J Appl Genet. 2019 Feb;60(1):49-56. doi: 10.1007/s13353-018-0472-3. Epub 2018 Oct 4.
529 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 3;98(3):562-570. doi: 10.1016/j.ajhg.2016.01.011.
530 Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. Clin Genet. 2013 Dec;84(6):507-21. doi: 10.1111/cge.12094. Epub 2013 Mar 18.
531 Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet. 2018 Dec 6;103(6):1030-1037. doi: 10.1016/j.ajhg.2018.10.021. Epub 2018 Nov 29.
532 A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy.Neuromuscul Disord. 2013 Jul;23(7):562-7. doi: 10.1016/j.nmd.2013.04.006. Epub 2013 Jun 6.
533 The NuRD complex and macrocephaly associated neurodevelopmental disorders.Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):548-556. doi: 10.1002/ajmg.c.31752. Epub 2019 Nov 18.
534 Partial deletion of GLRB and GRIA2 in a patient with intellectual disability. Eur J Hum Genet. 2013 Jan;21(1):112-4. doi: 10.1038/ejhg.2012.97. Epub 2012 Jun 6.
535 The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. Eur J Hum Genet. 2019 Mar;27(3):408-421. doi: 10.1038/s41431-018-0299-8. Epub 2018 Dec 14.
536 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.Am J Med Genet A. 2014 Nov;164A(11):2879-86. doi: 10.1002/ajmg.a.36707. Epub 2014 Aug 12.
537 Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. Am J Hum Genet. 2019 Nov 7;105(5):907-920. doi: 10.1016/j.ajhg.2019.09.013. Epub 2019 Oct 10.
538 An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.Front Mol Neurosci. 2019 Feb 20;12:43. doi: 10.3389/fnmol.2019.00043. eCollection 2019.
539 De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. Am J Hum Genet. 2019 Apr 4;104(4):758-766. doi: 10.1016/j.ajhg.2019.02.023. Epub 2019 Mar 28.
540 De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.Clin Genet. 2018 May;93(5):1030-1038. doi: 10.1111/cge.13198. Epub 2018 Jan 25.
541 White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria.Brain Dev. 2016 Jan;38(1):142-4. doi: 10.1016/j.braindev.2015.04.012. Epub 2015 May 14.
542 A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.Am J Med Genet A. 2018 Nov;176(11):2395-2403. doi: 10.1002/ajmg.a.40478. Epub 2018 Sep 23.
543 Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.Am J Med Genet A. 2017 Apr;173(4):1041-1046. doi: 10.1002/ajmg.a.38089. Epub 2017 Feb 9.
544 Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. Am J Hum Genet. 2018 Aug 2;103(2):296-304. doi: 10.1016/j.ajhg.2018.06.011. Epub 2018 Jul 19.
545 MAP1B related syndrome: Case presentation and review of literature.Am J Med Genet A. 2019 Sep;179(9):1703-1708. doi: 10.1002/ajmg.a.61280. Epub 2019 Jul 17.
546 A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?.Mol Genet Genomic Med. 2019 Aug;7(8):e849. doi: 10.1002/mgg3.849. Epub 2019 Jul 9.
547 MBTPS2 mutation causes BRESEK/BRESHECK syndrome. Am J Med Genet A. 2012 Jan;158A(1):97-102. doi: 10.1002/ajmg.a.34373. Epub 2011 Nov 21.
548 Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.J Med Genet. 1994 Apr;31(4):312-6. doi: 10.1136/jmg.31.4.312.
549 Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec;21(12):2713-2722. doi: 10.1038/s41436-019-0557-3. Epub 2019 Jun 3.
550 De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Hum Genet. 2018 May;137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8.
551 Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. Hum Mol Genet. 2014 Aug 1;23(15):4015-23. doi: 10.1093/hmg/ddu115. Epub 2014 Mar 13.
552 Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. Am J Hum Genet. 2019 Oct 3;105(4):869-878. doi: 10.1016/j.ajhg.2019.09.007. Epub 2019 Sep 26.
553 Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. Hum Mutat. 2014 Jan;35(1):41-4. doi: 10.1002/humu.22453. Epub 2013 Oct 21.
554 Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.Am J Med Genet A. 2015 May;167A(5):1047-53. doi: 10.1002/ajmg.a.36839. Epub 2015 Mar 21.
555 A de novo 921Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors.Eur J Med Genet. 2018 Oct;61(10):607-611. doi: 10.1016/j.ejmg.2018.04.002. Epub 2018 Apr 11.
556 Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004.
557 A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children.Clin Genet. 2018 Oct;94(3-4):393-395. doi: 10.1111/cge.13386. Epub 2018 Jul 30.
558 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.J Hum Genet. 2019 Feb;64(2):183-189. doi: 10.1038/s10038-018-0541-9. Epub 2018 Nov 20.
559 A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.Eur J Hum Genet. 2015 Jul;23(7):935-9. doi: 10.1038/ejhg.2014.214. Epub 2014 Oct 8.
560 Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. Am J Hum Genet. 2014 Feb 6;94(2):278-87. doi: 10.1016/j.ajhg.2013.12.012. Epub 2014 Jan 16.
561 Characterization of a Mouse Model of Brjeson-Forssman-Lehmann Syndrome.Cell Rep. 2018 Nov 6;25(6):1404-1414.e6. doi: 10.1016/j.celrep.2018.10.043.
562 Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. Ann Clin Transl Neurol. 2019 Apr 11;6(5):968-973. doi: 10.1002/acn3.768. eCollection 2019 May.
563 A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies. BMC Neurol. 2016 Aug 9;16:132. doi: 10.1186/s12883-016-0642-z.
564 Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.J Clin Med. 2019 Nov 19;8(11):2020. doi: 10.3390/jcm8112020.
565 Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.J Hum Genet. 2016 Aug;61(8):753-9. doi: 10.1038/jhg.2016.42. Epub 2016 May 19.
566 The evolving spectrum of PRRT2-associated paroxysmal diseases.Brain. 2015 Dec;138(Pt 12):3476-95. doi: 10.1093/brain/awv317. Epub 2015 Nov 23.
567 PTRHD1 and possibly ADORA1 mutations contribute to Parkinsonism with intellectual disability.Mov Disord. 2018 Jan;33(1):174. doi: 10.1002/mds.27126. Epub 2017 Nov 16.
568 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.
569 Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Genome Med. 2016 Nov 1;8(1):105. doi: 10.1186/s13073-016-0359-z.
570 Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. Am J Hum Genet. 2019 Jan 3;104(1):179-185. doi: 10.1016/j.ajhg.2018.11.018. Epub 2018 Dec 27.
571 Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly. Dev Med Child Neurol. 2016 Dec;58(12):1317-1322. doi: 10.1111/dmcn.13250. Epub 2016 Sep 9.
572 De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.J Med Genet. 2020 Feb;57(2):138-144. doi: 10.1136/jmedgenet-2018-105927. Epub 2019 Aug 22.
573 SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. Eur J Hum Genet. 2019 Jun;27(6):928-940. doi: 10.1038/s41431-019-0347-z. Epub 2019 Feb 5.
574 Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14.
575 Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat Neurosci. 2016 Apr;19(4):571-7. doi: 10.1038/nn.4267. Epub 2016 Mar 14.
576 Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.BMC Med Genomics. 2019 Jan 10;12(1):6. doi: 10.1186/s12920-018-0471-6.
577 Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nat Genet. 2016 Aug;48(8):877-87. doi: 10.1038/ng.3619. Epub 2016 Jul 11.
578 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 2007 Mar;80(3):485-94. doi: 10.1086/511888. Epub 2007 Jan 17.
579 The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.Eur J Med Genet. 2020 Apr;63(4):103777. doi: 10.1016/j.ejmg.2019.103777. Epub 2019 Sep 30.
580 SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet. 2006 Apr 1;15(7):1195-207. doi: 10.1093/hmg/ddl035. Epub 2006 Feb 23.
581 Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet. 2009 Feb;84(2):286-90. doi: 10.1016/j.ajhg.2009.01.017.
582 Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.Hum Mutat. 2009 May;30(5):E673-81. doi: 10.1002/humu.21023.
583 Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. Brain. 2016 Sep;139(Pt 9):2420-30. doi: 10.1093/brain/aww180. Epub 2016 Jul 19.
584 Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8.
585 TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. Brain. 2014 Oct;137(Pt 10):2657-63. doi: 10.1093/brain/awu202. Epub 2014 Jul 28.
586 Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy. Hum Mol Genet. 2017 Nov 1;26(21):4278-4289. doi: 10.1093/hmg/ddx316.
587 Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet. 2013 Jul 11;93(1):181-90. doi: 10.1016/j.ajhg.2013.05.028. Epub 2013 Jul 3.
588 Evolution of the Rho guanine nucleotide exchange factors Kalirin and Trio and their gene expression in Xenopus development.Gene Expr Patterns. 2019 Jun;32:18-27. doi: 10.1016/j.gep.2019.02.004. Epub 2019 Mar 4.
589 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.
590 Whole-Transcriptome Analysis Reveals Dysregulation of Actin-Cytoskeleton Pathway in Intellectual Disability Patients.Neuroscience. 2019 Apr 15;404:423-444. doi: 10.1016/j.neuroscience.2019.01.029. Epub 2019 Feb 10.
591 Autozygome and high throughput confirmation of disease genes candidacy. Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21.
592 A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome.Eur J Med Genet. 2019 Nov;62(11):103549. doi: 10.1016/j.ejmg.2018.10.001. Epub 2018 Oct 6.
593 Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.Eur J Hum Genet. 2019 Apr;27(4):594-602. doi: 10.1038/s41431-018-0321-1. Epub 2019 Jan 18.
594 Laf4/Aff3, a gene involved in intellectual disability, is required for cellular migration in the mouse cerebral cortex.PLoS One. 2014 Aug 27;9(8):e105933. doi: 10.1371/journal.pone.0105933. eCollection 2014.
595 Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.Hum Genet. 2019 Dec;138(11-12):1259-1266. doi: 10.1007/s00439-019-02065-x. Epub 2019 Sep 25.
596 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.
597 Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. Neurology. 2017 Aug 15;89(7):657-664. doi: 10.1212/WNL.0000000000004234. Epub 2017 Jul 21.
598 Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification. Am J Hum Genet. 2019 Jun 6;104(6):1202-1209. doi: 10.1016/j.ajhg.2019.03.026. Epub 2019 May 9.
599 A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.Eur J Med Genet. 2011 Jan-Feb;54(1):94-6. doi: 10.1016/j.ejmg.2010.09.008. Epub 2010 Oct 8.
600 Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.Am J Med Genet A. 2019 Apr;179(4):650-654. doi: 10.1002/ajmg.a.61057. Epub 2019 Feb 8.
601 Salivary -amylase as a marker of stress reduction in individuals with intellectual disability and autism in response to occupational and music therapy.J Intellect Disabil Res. 2018 Feb;62(2):156-163. doi: 10.1111/jir.12453. Epub 2017 Nov 21.
602 Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish.Hum Mol Genet. 2013 Feb 1;22(3):417-32. doi: 10.1093/hmg/dds438. Epub 2012 Oct 18.
603 ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway.Neurobiol Dis. 2018 Mar;111:138-152. doi: 10.1016/j.nbd.2017.12.008. Epub 2017 Dec 21.
604 Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation.Clin Genet. 1998 Jul;54(1):45-51. doi: 10.1111/j.1399-0004.1998.tb03692.x.
605 A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review.Brain Behav. 2019 Mar;9(3):e01221. doi: 10.1002/brb3.1221. Epub 2019 Feb 4.
606 A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001. Epub 2019 May 16.
607 Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features. Am J Med Genet A. 2014 Jul;164A(7):1677-85. doi: 10.1002/ajmg.a.36514. Epub 2014 Apr 3.
608 Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. PLoS Genet. 2017 Apr 28;13(4):e1006746. doi: 10.1371/journal.pgen.1006746. eCollection 2017 Apr.
609 Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.Genet Med. 2017 Jun;19(6):701-710. doi: 10.1038/gim.2016.180. Epub 2016 Dec 1.
610 Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y.
611 Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly.Am J Med Genet A. 2018 Jan;176(1):34-40. doi: 10.1002/ajmg.a.38537. Epub 2017 Nov 21.
612 Anxiety Disorders in Adults with Autism Spectrum Disorder: A Population-Based Study.J Autism Dev Disord. 2020 Jan;50(1):308-318. doi: 10.1007/s10803-019-04234-3.
613 Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.Clin Genet. 2014 Dec;86(6):558-63. doi: 10.1111/cge.12307. Epub 2013 Nov 21.
614 De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder.Eur J Med Genet. 2019 Jan;62(1):55-60. doi: 10.1016/j.ejmg.2018.05.003. Epub 2018 May 22.
615 Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.Hum Mutat. 2009 Mar;30(3):300-7. doi: 10.1002/humu.20847.
616 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.
617 Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.Eur J Hum Genet. 2017 Feb;25(2):183-191. doi: 10.1038/ejhg.2016.165. Epub 2016 Nov 30.
618 The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.Neurogenetics. 2018 May;19(2):111-121. doi: 10.1007/s10048-018-0545-9. Epub 2018 Apr 24.
619 De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. Am J Hum Genet. 2019 Mar 7;104(3):542-552. doi: 10.1016/j.ajhg.2019.01.013. Epub 2019 Feb 28.
620 Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.Hum Mutat. 2019 Dec;40(12):2353-2364. doi: 10.1002/humu.23889. Epub 2019 Aug 23.
621 Inactivation of ATRX in forebrain excitatory neurons affects hippocampal synaptic plasticity.Hippocampus. 2020 Jun;30(6):565-581. doi: 10.1002/hipo.23174. Epub 2019 Nov 12.
622 Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability. Orphanet J Rare Dis. 2013 Jan 7;8:3. doi: 10.1186/1750-1172-8-3.
623 Congenital Disorders of Ganglioside Biosynthesis.Prog Mol Biol Transl Sci. 2018;156:63-82. doi: 10.1016/bs.pmbts.2018.01.001. Epub 2018 Mar 22.
624 Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. Am J Hum Genet. 2019 Jan 3;104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20.
625 Plasmolipin: genomic structure, chromosomal localization, protein expression pattern, and putative association with Bardet-Biedl syndrome.Mamm Genome. 2001 Dec;12(12):933-7. doi: 10.1007/s00335-001-3035-5.
626 B-Cell Receptor-Associated Protein 31 Regulates the Expression of Valosin-Containing Protein Through Elf2.Cell Physiol Biochem. 2018;51(4):1799-1814. doi: 10.1159/000495682. Epub 2018 Nov 30.
627 Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.Hum Mutat. 2007 Aug;28(8):830. doi: 10.1002/humu.9502.
628 BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 2018 Aug 1;141(8):2299-2311. doi: 10.1093/brain/awy173.
629 Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. Am J Med Genet A. 2019 May;179(5):870-874. doi: 10.1002/ajmg.a.61118. Epub 2019 Apr 2.
630 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21.
631 Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.Ophthalmic Genet. 2017 Dec;38(6):559-561. doi: 10.1080/13816810.2017.1290118. Epub 2017 Mar 2.
632 BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. Genome Res. 2015 Feb;25(2):155-66. doi: 10.1101/gr.176925.114. Epub 2015 Jan 5.
633 Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):638-643. doi: 10.1002/ajmg.c.31750. Epub 2019 Nov 12.
634 Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.EMBO Mol Med. 2014 Jun;6(6):795-809. doi: 10.1002/emmm.201303235. Epub 2014 Apr 6.
635 Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. J Med Genet. 2012 Jun;49(6):400-8. doi: 10.1136/jmedgenet-2012-100856.
636 Positive association of CC2D1A and CC2D2A gene haplotypes with mental retardation in a Han Chinese population.DNA Cell Biol. 2012 Jan;31(1):80-7. doi: 10.1089/dna.2011.1253. Epub 2011 Oct 24.
637 A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.BMC Med Genet. 2015 Apr 30;16:28. doi: 10.1186/s12881-015-0175-0.
638 Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet. 2018 Nov 1;103(5):794-807. doi: 10.1016/j.ajhg.2018.09.014. Epub 2018 Oct 25.
639 Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.Am J Hum Genet. 2018 Feb 1;102(2):309-320. doi: 10.1016/j.ajhg.2017.12.015. Epub 2018 Jan 25.
640 CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.Am J Hum Genet. 2017 Sep 7;101(3):391-403. doi: 10.1016/j.ajhg.2017.08.003.
641 CUGC for Stromme syndrome and CENPF-related disorders.Eur J Hum Genet. 2020 Jan;28(1):132-136. doi: 10.1038/s41431-019-0498-y. Epub 2019 Sep 5.
642 Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Am J Hum Genet. 2014 Jun 5;94(6):905-14. doi: 10.1016/j.ajhg.2014.05.002. Epub 2014 May 29.
643 Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015 Mar 12;519(7542):223-8. doi: 10.1038/nature14135. Epub 2014 Dec 24.
644 De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.Hum Mutat. 2016 Apr;37(4):354-8. doi: 10.1002/humu.22952. Epub 2016 Feb 4.
645 Autism-linked CHD gene expression patterns during development predict multi-organ disease phenotypes.J Anat. 2018 Dec;233(6):755-769. doi: 10.1111/joa.12889. Epub 2018 Oct 2.
646 A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.Mol Psychiatry. 2019 Jul;24(7):1065-1078. doi: 10.1038/s41380-018-0020-x. Epub 2018 Feb 20.
647 Regulation of neuronal connectivity in the mammalian brain by chromatin remodeling.Curr Opin Neurobiol. 2019 Dec;59:59-68. doi: 10.1016/j.conb.2019.04.010. Epub 2019 May 28.
648 An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. Hum Mol Genet. 2012 Oct 15;21(20):4497-507. doi: 10.1093/hmg/dds292. Epub 2012 Jul 19.
649 Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.Clin Genet. 2010 Jan;77(1):79-85. doi: 10.1111/j.1399-0004.2009.01285.x. Epub 2009 Oct 5.
650 CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15.
651 Serum carnosinase deficiency concomitant with mental retardation.Pediatr Res. 1973 Jul;7(7):601-6. doi: 10.1203/00006450-197307000-00001.
652 A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.Mol Genet Genomic Med. 2019 Oct;7(10):e00861. doi: 10.1002/mgg3.861. Epub 2019 Aug 15.
653 CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.Eur J Med Genet. 2019 Mar;62(3):198-203. doi: 10.1016/j.ejmg.2018.07.014. Epub 2018 Jul 17.
654 Generation of the induced pluripotent stem cell line, ICAGi002-A, from unaffected carrier megabase scaled duplication involving the CNTN6 gene.Stem Cell Res. 2019 Oct;40:101556. doi: 10.1016/j.scr.2019.101556. Epub 2019 Aug 28.
655 Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.Neurogenetics. 2020 Jan;21(1):59-66. doi: 10.1007/s10048-019-00597-y. Epub 2019 Nov 19.
656 Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.Eur J Hum Genet. 2019 Aug;27(8):1235-1243. doi: 10.1038/s41431-019-0383-8. Epub 2019 Mar 26.
657 Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep.
658 CTCF: a Swiss-army knife for genome organization and transcription regulation.Essays Biochem. 2019 Apr 23;63(1):157-165. doi: 10.1042/EBC20180069. Print 2019 Apr 23.
659 Biallelic loss of human CTNNA2, encoding N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16.
660 A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder.Eur J Hum Genet. 2018 Sep;26(9):1388-1391. doi: 10.1038/s41431-018-0184-5. Epub 2018 May 24.
661 Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.Am J Med Genet A. 2016 Jun;170(6):1502-9. doi: 10.1002/ajmg.a.37632. Epub 2016 Mar 26.
662 Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.Eur J Hum Genet. 2019 May;27(5):747-759. doi: 10.1038/s41431-018-0331-z. Epub 2019 Jan 21.
663 Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27.
664 Early born neurons are abnormally positioned in the doublecortin knockout hippocampus.Hum Mol Genet. 2017 Jan 1;26(1):90-108. doi: 10.1093/hmg/ddw370.
665 Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.Sci Rep. 2014 Nov 24;4:7132. doi: 10.1038/srep07132.
666 De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability. Am J Med Genet A. 2019 Apr;179(4):570-578. doi: 10.1002/ajmg.a.61061. Epub 2019 Feb 7.
667 Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. Am J Hum Genet. 2019 Sep 5;105(3):509-525. doi: 10.1016/j.ajhg.2019.07.010. Epub 2019 Aug 15.
668 Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.Am J Med Genet A. 2016 Feb;170A(2):435-440. doi: 10.1002/ajmg.a.37422. Epub 2015 Oct 13.
669 Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion.Am J Med Genet A. 2013 Oct;161A(10):2504-11. doi: 10.1002/ajmg.a.36122. Epub 2013 Aug 15.
670 Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy.Mol Genet Metab. 2012 Jul;106(3):345-50. doi: 10.1016/j.ymgme.2012.04.026. Epub 2012 May 10.
671 Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. Genomics. 2008 Feb;91(2):195-202. doi: 10.1016/j.ygeno.2007.10.011. Epub 2007 Dec 3.
672 A quantitative assessment of gene expression (QAGE) reveals differential overexpression of DOPEY2, a candidate gene for mental retardation, in Down syndrome brain regions.Int J Dev Neurosci. 2009 Jun;27(4):393-8. doi: 10.1016/j.ijdevneu.2009.02.001. Epub 2009 Feb 13.
673 Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. Am J Hum Genet. 2018 Mar 1;102(3):468-479. doi: 10.1016/j.ajhg.2018.01.014. Epub 2018 Feb 8.
674 A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.J Hum Genet. 2018 Apr;63(4):487-491. doi: 10.1038/s10038-017-0404-9. Epub 2018 Feb 6.
675 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.Am J Hum Genet. 2017 Jan 5;100(1):117-127. doi: 10.1016/j.ajhg.2016.11.012. Epub 2016 Dec 22.
676 Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review.Brain Dev. 2020 Jan;42(1):77-82. doi: 10.1016/j.braindev.2019.08.001. Epub 2019 Aug 30.
677 Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med. 2016 Jan;18(1):49-56. doi: 10.1038/gim.2015.29. Epub 2015 Mar 19.
678 Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.Am J Hum Genet. 2019 Jun 6;104(6):1182-1201. doi: 10.1016/j.ajhg.2019.04.011. Epub 2019 May 23.
679 eIF2 mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. Mol Cell. 2012 Nov 30;48(4):641-6. doi: 10.1016/j.molcel.2012.09.005. Epub 2012 Oct 11.
680 EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Hum Mutat. 2017 Apr;38(4):409-425. doi: 10.1002/humu.23170. Epub 2017 Jan 23.
681 Quantifying the contribution of recessive coding variation to developmental disorders. Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.
682 A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.Orphanet J Rare Dis. 2016 Oct 21;11(1):139. doi: 10.1186/s13023-016-0526-8.
683 ELMO Domain Containing 1 (ELMOD1) Gene Mutation Is Associated with Mental Retardation and Autism Spectrum Disorder.J Mol Neurosci. 2019 Oct;69(2):312-315. doi: 10.1007/s12031-019-01359-z. Epub 2019 Jul 20.
684 ELP2 is a novel gene implicated in neurodevelopmental disabilities.Am J Med Genet A. 2015 Jun;167(6):1391-5. doi: 10.1002/ajmg.a.36935. Epub 2015 Apr 2.
685 Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.Eur J Pediatr. 2017 Feb;176(2):279-283. doi: 10.1007/s00431-016-2834-3. Epub 2016 Dec 30.
686 A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. Hum Mol Genet. 2011 May 15;20(10):1886-92. doi: 10.1093/hmg/ddr070. Epub 2011 Feb 17.
687 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.Am J Med Genet A. 2014 Dec;164A(12):3088-94. doi: 10.1002/ajmg.a.36770. Epub 2014 Sep 24.
688 A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.J Bone Miner Res. 2014 Apr;29(4):992-8. doi: 10.1002/jbmr.2091.
689 Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease. Hum Mutat. 2018 Oct;39(10):1355-1359. doi: 10.1002/humu.23595. Epub 2018 Jul 30.
690 Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.Hum Mol Genet. 2019 Mar 15;28(6):972-979. doi: 10.1093/hmg/ddy406.
691 Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. Am J Med Genet A. 2014 Feb;164A(2):441-8. doi: 10.1002/ajmg.a.36320. Epub 2013 Dec 19.
692 Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family. Hum Genet. 2014 Aug;133(8):975-84. doi: 10.1007/s00439-014-1438-0. Epub 2014 Mar 13.
693 De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. Am J Hum Genet. 2019 Sep 5;105(3):640-657. doi: 10.1016/j.ajhg.2019.07.005. Epub 2019 Aug 8.
694 Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.Hum Mol Genet. 2005 Jan 15;14(2):295-305. doi: 10.1093/hmg/ddi026. Epub 2004 Dec 1.
695 Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. Am J Hum Genet. 2014 Dec 4;95(6):721-8. doi: 10.1016/j.ajhg.2014.10.016.
696 Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.BMC Med Genet. 2017 Aug 29;18(1):96. doi: 10.1186/s12881-017-0455-y.
697 FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.Hum Mol Genet. 2018 Feb 15;27(4):589-600. doi: 10.1093/hmg/ddx426.
698 A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient.Biochem Biophys Res Commun. 1992 Dec 15;189(2):1063-8. doi: 10.1016/0006-291x(92)92312-l.
699 Core fucosylation of N-linked glycans in leukocyte adhesion deficiency/congenital disorder of glycosylation IIc fibroblasts.Glycobiology. 2005 Oct;15(10):924-34. doi: 10.1093/glycob/cwi081. Epub 2005 May 25.
700 Cloning and characterization of the novel chimeric gene p53/FXR2 in the acute megakaryoblastic leukemia cell line CMK11-5.Tohoku J Exp Med. 2006 Jul;209(3):169-80. doi: 10.1620/tjem.209.169.
701 Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.Brain. 2019 Oct 1;142(10):3028-3044. doi: 10.1093/brain/awz250.
702 Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.Am J Med Genet A. 2005 Mar 1;133A(2):122-7. doi: 10.1002/ajmg.a.30226.
703 Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Hum Genet. 2018 Sep;137(9):735-752. doi: 10.1007/s00439-018-1928-6. Epub 2018 Aug 22.
704 Bone Morphogenetic Protein (BMP)-3b Gene Depletion Causes High Mortality in a Mouse Model of Neonatal Hypoxic-Ischemic Encephalopathy.Front Neurol. 2018 Jun 5;9:397. doi: 10.3389/fneur.2018.00397. eCollection 2018.
705 GIT1 regulates synaptic structural plasticity underlying learning.PLoS One. 2018 Mar 19;13(3):e0194350. doi: 10.1371/journal.pone.0194350. eCollection 2018.
706 Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.Mol Genet Genomic Med. 2019 Apr;7(4):e00569. doi: 10.1002/mgg3.569. Epub 2019 Feb 6.
707 Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.Am J Hum Genet. 2016 Dec 1;99(6):1261-1280. doi: 10.1016/j.ajhg.2016.10.002. Epub 2016 Nov 10.
708 Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3.Int J Mol Med. 2004 Dec;14(6):977-9.
709 Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.Hum Mol Genet. 2017 Mar 15;26(6):1078-1086. doi: 10.1093/hmg/ddx018.
710 Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15.
711 Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.Am J Med Genet A. 2018 Feb;176(2):421-425. doi: 10.1002/ajmg.a.38558. Epub 2017 Dec 11.
712 RNA function. Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration.Science. 2014 Jul 25;345(6195):455-9. doi: 10.1126/science.1249749.
713 HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. Am J Med Genet A. 2019 Oct;179(10):2049-2055. doi: 10.1002/ajmg.a.61321. Epub 2019 Aug 9.
714 A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder.Eur J Hum Genet. 2020 May;28(5):674-678. doi: 10.1038/s41431-019-0552-9. Epub 2019 Dec 5.
715 Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation.Brain Dev. 2018 May;40(5):410-414. doi: 10.1016/j.braindev.2017.12.015. Epub 2018 Feb 1.
716 HERC1 mutations in idiopathic intellectual disability.Eur J Med Genet. 2017 May;60(5):279-283. doi: 10.1016/j.ejmg.2017.03.007. Epub 2017 Mar 18.
717 Proteomic investigations of human HERC2 mutants: Insights into the pathobiology of a neurodevelopmental disorder.Biochem Biophys Res Commun. 2019 Apr 30;512(2):421-427. doi: 10.1016/j.bbrc.2019.02.149. Epub 2019 Mar 19.
718 Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.Hum Genet. 2000 Oct;107(4):320-6. doi: 10.1007/s004390000363.
719 Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation. Clin Genet. 2018 Oct;94(3-4):381-385. doi: 10.1111/cge.13410. Epub 2018 Aug 2.
720 Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2. Epub 2018 Jun 14.
721 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016 Sep;18(9):898-905. doi: 10.1038/gim.2015.186. Epub 2016 Jan 21.
722 Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10.
723 Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability.Sci Rep. 2018 Apr 12;8(1):6010. doi: 10.1038/s41598-018-24189-2.
724 De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.Am J Med Genet A. 2016 Jun;170(6):1566-9. doi: 10.1002/ajmg.a.37598. Epub 2016 Feb 19.
725 INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. Nat Genet. 2009 Sep;41(9):1027-31. doi: 10.1038/ng.427. Epub 2009 Aug 9.
726 Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.J Pediatr Genet. 2017 Jun;6(2):77-83. doi: 10.1055/s-0037-1598639. Epub 2017 Feb 14.
727 Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. J Clin Invest. 2020 Mar 2;130(3):1431-1445. doi: 10.1172/JCI131145.
728 Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.Mol Diagn Ther. 2019 Dec;23(6):781-789. doi: 10.1007/s40291-019-00426-w.
729 KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.Eur J Hum Genet. 2020 Jan;28(1):40-49. doi: 10.1038/s41431-019-0497-z. Epub 2019 Sep 5.
730 Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9.
731 Abnormal behaviours relevant to neurodevelopmental disorders in Kirrel3-knockout mice.Sci Rep. 2018 Jan 23;8(1):1408. doi: 10.1038/s41598-018-19844-7.
732 ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.Eur J Med Genet. 2018 Jul;61(7):376-383. doi: 10.1016/j.ejmg.2018.02.002. Epub 2018 Feb 7.
733 Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome.JCI Insight. 2019 Oct 17;4(20):e129375. doi: 10.1172/jci.insight.129375.
734 Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.
735 Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.Nat Genet. 2001 May;28(1):73-6. doi: 10.1038/ng0501-73.
736 Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.Eur J Hum Genet. 2011 Apr;19(4):452-7. doi: 10.1038/ejhg.2010.212. Epub 2011 Jan 19.
737 de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.Sci Rep. 2019 Aug 29;9(1):12516. doi: 10.1038/s41598-019-49032-0.
738 The claw paw mutation reveals a role for Lgi4 in peripheral nerve development.Nat Neurosci. 2006 Jan;9(1):76-84. doi: 10.1038/nn1598. Epub 2005 Dec 11.
739 Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. J Med Genet. 2016 Feb;53(2):138-44. doi: 10.1136/jmedgenet-2015-103179. Epub 2015 Nov 13.
740 MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). J Med Genet. 2019 May;56(5):332-339. doi: 10.1136/jmedgenet-2018-105623. Epub 2018 Nov 28.
741 MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21.
742 Mono-ADP-Ribosylhydrolase MACROD2 Is Dispensable for Murine Responses to Metabolic and Genotoxic Insults.Front Genet. 2018 Dec 12;9:654. doi: 10.3389/fgene.2018.00654. eCollection 2018.
743 MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.Eur J Med Genet. 2019 Feb;62(2):109-114. doi: 10.1016/j.ejmg.2018.06.011. Epub 2018 Jun 14.
744 De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. Am J Hum Genet. 2019 Feb 7;104(2):203-212. doi: 10.1016/j.ajhg.2018.12.008. Epub 2019 Jan 3.
745 Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport.Neurology. 2013 Aug 13;81(7):681-7. doi: 10.1212/WNL.0b013e3182a08f53. Epub 2013 Jul 19.
746 MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138.
747 Is MED13L-related intellectual disability a recognizable syndrome?.Eur J Med Genet. 2019 Feb;62(2):129-136. doi: 10.1016/j.ejmg.2018.06.014. Epub 2018 Jun 27.
748 Mutations in JMJD1C are involved in Rett syndrome and intellectual disability. Genet Med. 2016 Apr;18(4):378-85. doi: 10.1038/gim.2015.100. Epub 2015 Jul 16.
749 MED23-associated intellectual disability in a non-consanguineous family.Am J Med Genet A. 2015 Jun;167(6):1374-80. doi: 10.1002/ajmg.a.37047. Epub 2015 Apr 2.
750 Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20.
751 Myocyte Enhancer Factor 2c Regulates Dendritic Complexity and Connectivity of Cerebellar Purkinje Cells.Mol Neurobiol. 2019 Jun;56(6):4102-4119. doi: 10.1007/s12035-018-1363-7. Epub 2018 Oct 1.
752 MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.Eur J Med Genet. 2020 Jan;63(1):103627. doi: 10.1016/j.ejmg.2019.01.017. Epub 2019 Feb 5.
753 A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. Nat Genet. 2015 Jul;47(7):814-7. doi: 10.1038/ng.3313. Epub 2015 May 25.
754 A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Hum Mol Genet. 2019 Feb 15;28(4):639-649. doi: 10.1093/hmg/ddy374.
755 De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.Nat Genet. 2018 Oct;50(10):1442-1451. doi: 10.1038/s41588-018-0220-y. Epub 2018 Sep 17.
756 Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment.PLoS One. 2015 Apr 22;10(4):e0123106. doi: 10.1371/journal.pone.0123106. eCollection 2015.
757 MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature.J Pediatr Endocrinol Metab. 2019 Apr 24;32(4):409-413. doi: 10.1515/jpem-2018-0505.
758 A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.BMC Med Genet. 2019 Jun 7;20(1):101. doi: 10.1186/s12881-019-0803-1.
759 Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12.
760 Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic plasticity in mice.Neurobiol Dis. 2013 Mar;51:144-51. doi: 10.1016/j.nbd.2012.11.004. Epub 2012 Nov 12.
761 The role of neuronal complexes in human X-linked brain diseases.Am J Hum Genet. 2007 Feb;80(2):205-20. doi: 10.1086/511441. Epub 2007 Jan 9.
762 Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.Biochem Biophys Res Commun. 2015 Feb 20;457(4):554-60. doi: 10.1016/j.bbrc.2015.01.023. Epub 2015 Jan 16.
763 Genetic Dissection and Clinical Features of MODY6 (NEUROD1-MODY).Curr Diab Rep. 2019 Feb 22;19(3):12. doi: 10.1007/s11892-019-1130-9.
764 Nipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration.Neuron. 2017 Jan 18;93(2):348-361. doi: 10.1016/j.neuron.2016.11.047. Epub 2016 Dec 29.
765 Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. Am J Hum Genet. 2019 Nov 7;105(5):987-995. doi: 10.1016/j.ajhg.2019.09.009. Epub 2019 Oct 3.
766 790Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism.Eur J Med Genet. 2012 Mar;55(3):222-4. doi: 10.1016/j.ejmg.2012.01.016. Epub 2012 Feb 6.
767 Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.Hum Mutat. 2019 Nov;40(11):2021-2032. doi: 10.1002/humu.23836. Epub 2019 Jul 29.
768 Analysis on the emerging role of Rab3 GTPase-activating protein in Warburg Micro and Martsolf syndrome.Methods Enzymol. 2008;438:131-9. doi: 10.1016/S0076-6879(07)38009-9.
769 Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.Am J Med Genet A. 2019 May;179(5):792-796. doi: 10.1002/ajmg.a.61091. Epub 2019 Feb 17.
770 Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of Neuropsychiatric Risk Genes.Biol Psychiatry. 2017 Aug 1;82(3):213-223. doi: 10.1016/j.biopsych.2017.03.021. Epub 2017 Apr 6.
771 The pleiotropic transcriptional regulator COUP-TFI plays multiple roles in neural development and disease.Brain Res. 2019 Feb 15;1705:75-94. doi: 10.1016/j.brainres.2018.04.024. Epub 2018 Apr 27.
772 Small 4p16.3 deletions: Three additional patients and review of the literature.Am J Med Genet A. 2018 Nov;176(11):2501-2508. doi: 10.1002/ajmg.a.40512. Epub 2018 Sep 23.
773 CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.Nat Cell Biol. 2012 Sep;14(9):911-23. doi: 10.1038/ncb2566. Epub 2012 Aug 26.
774 Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 Nov 7;105(5):1048-1056. doi: 10.1016/j.ajhg.2019.09.025. Epub 2019 Oct 24.
775 OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.Hum Mol Genet. 2019 Jun 15;28(12):1931-1946. doi: 10.1093/hmg/ddy449.
776 Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.
777 Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 6;100(4):676-688. doi: 10.1016/j.ajhg.2017.03.001. Epub 2017 Mar 23.
778 First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.Am J Med Genet. 2001 Apr 1;99(4):338-42. doi: 10.1002/ajmg.1203.
779 Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. Am J Hum Genet. 2019 Dec 5;105(6):1237-1253. doi: 10.1016/j.ajhg.2019.11.002. Epub 2019 Nov 27.
780 Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). Genet Med. 2019 Oct;21(10):2355-2363. doi: 10.1038/s41436-019-0503-4. Epub 2019 Apr 3.
781 Expanding the clinical spectrum associated with PACS2 mutations.Clin Genet. 2019 Apr;95(4):525-531. doi: 10.1111/cge.13516. Epub 2019 Feb 28.
782 Enhanced expression of Pafah1b1 causes over-migration of cerebral cortical neurons into the marginal zone.Brain Struct Funct. 2017 Dec;222(9):4283-4291. doi: 10.1007/s00429-017-1497-9. Epub 2017 Aug 23.
783 PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.Neurobiol Dis. 2020 Mar;136:104709. doi: 10.1016/j.nbd.2019.104709. Epub 2019 Dec 14.
784 The genetic architecture of aniridia and Gillespie syndrome.Hum Genet. 2019 Sep;138(8-9):881-898. doi: 10.1007/s00439-018-1934-8. Epub 2018 Sep 22.
785 De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363.
786 Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations.Epilepsy Behav. 2016 Jul;60:75-80. doi: 10.1016/j.yebeh.2016.04.009. Epub 2016 May 12.
787 Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.Am J Hum Genet. 2018 Dec 6;103(6):1054-1055. doi: 10.1016/j.ajhg.2018.11.009.
788 The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.Mol Genet Metab. 2014 Apr;111(4):522-532. doi: 10.1016/j.ymgme.2014.01.008. Epub 2014 Jan 23.
789 Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.J Child Neurol. 2012 Oct;27(10):1270-5. doi: 10.1177/0883073811435507. Epub 2012 Feb 28.
790 Cerebral visual impairment and intellectual disability caused by PGAP1 variants.Eur J Hum Genet. 2015 Dec;23(12):1689-93. doi: 10.1038/ejhg.2015.42. Epub 2015 Mar 25.
791 A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.J Neurol Sci. 2016 Dec 15;371:121-125. doi: 10.1016/j.jns.2016.10.027. Epub 2016 Oct 18.
792 De novo PHACTR1 mutations in West syndrome and their pathophysiological effects. Brain. 2018 Nov 1;141(11):3098-3114. doi: 10.1093/brain/awy246.
793 De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.Eur J Hum Genet. 2019 Mar;27(3):378-383. doi: 10.1038/s41431-018-0289-x. Epub 2018 Nov 28.
794 A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. Eur J Hum Genet. 2018 Jan;26(1):54-63. doi: 10.1038/s41431-017-0039-5. Epub 2017 Dec 5.
795 A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.Am J Med Genet A. 2016 Feb;170A(2):392-402. doi: 10.1002/ajmg.a.37452. Epub 2015 Nov 6.
796 Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. Am J Hum Genet. 2019 Aug 1;105(2):384-394. doi: 10.1016/j.ajhg.2019.05.019. Epub 2019 Jun 27.
797 Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.BMC Med Genet. 2017 Nov 2;18(1):124. doi: 10.1186/s12881-017-0481-9.
798 Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. Eur J Hum Genet. 2014 Jun;22(6):762-7. doi: 10.1038/ejhg.2013.241. Epub 2013 Oct 16.
799 Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report.BMC Pediatr. 2019 Feb 27;19(1):68. doi: 10.1186/s12887-019-1440-8.
800 Dent Disease with mutations in OCRL1. Am J Hum Genet. 2005 Feb;76(2):260-7. doi: 10.1086/427887. Epub 2004 Dec 30.
801 Functional requirement for human pitrilysin metallopeptidase 1 arginine 183, mutated in amyloidogenic neuropathy.Protein Sci. 2018 Apr;27(4):861-873. doi: 10.1002/pro.3380. Epub 2018 Feb 23.
802 Quality and quantity control of gene expression by nonsense-mediated mRNA decay.Nat Rev Mol Cell Biol. 2019 Jul;20(7):406-420. doi: 10.1038/s41580-019-0126-2.
803 Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).Am J Med Genet A. 2020 Jan;182(1):38-52. doi: 10.1002/ajmg.a.61380. Epub 2019 Nov 29.
804 Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.Neuromuscul Disord. 2014 Apr;24(4):321-4. doi: 10.1016/j.nmd.2014.01.009. Epub 2014 Jan 28.
805 Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.Am J Hum Genet. 2016 Feb 4;98(2):363-72. doi: 10.1016/j.ajhg.2015.12.014. Epub 2016 Jan 28.
806 A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.Mol Syndromol. 2014 Jan;5(1):32-5. doi: 10.1159/000356060. Epub 2013 Nov 2.
807 Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1.Am J Med Genet A. 2018 Sep;176(9):2024-2027. doi: 10.1002/ajmg.a.40432. Epub 2018 Sep 21.
808 Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. Am J Hum Genet. 2020 Jan 2;106(1):121-128. doi: 10.1016/j.ajhg.2019.12.004. Epub 2019 Dec 26.
809 Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.Gene. 2015 Nov 1;572(1):130-134. doi: 10.1016/j.gene.2015.07.016. Epub 2015 Jul 8.
810 De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics. 2016 Jan;17(1):43-9. doi: 10.1007/s10048-015-0466-9. Epub 2015 Nov 17.
811 Frameshift PQBP-1 mutants K192S(fs*7) and R153S(fs*41) implicated in X-linked intellectual disability form stable dimers.J Struct Biol. 2019 Jun 1;206(3):305-313. doi: 10.1016/j.jsb.2019.04.003. Epub 2019 Apr 2.
812 De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.Hum Genet. 2018 Mar;137(3):257-264. doi: 10.1007/s00439-018-1877-0. Epub 2018 Mar 19.
813 PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):736-745. doi: 10.1002/ajmg.b.32688. Epub 2018 Nov 13.
814 PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. Am J Med Genet A. 2020 Mar;182(3):591-594. doi: 10.1002/ajmg.a.61463. Epub 2019 Dec 20.
815 Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. J Med Genet. 2014 Dec;51(12):806-13. doi: 10.1136/jmedgenet-2014-102798. Epub 2014 Oct 23.
816 Role of Pseudouridine Formation by Deg1 for Functionality of Two Glutamine Isoacceptor tRNAs.Biomolecules. 2017 Jan 26;7(1):8. doi: 10.3390/biom7010008.
817 PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly. Hum Genet. 2019 Mar;138(3):231-239. doi: 10.1007/s00439-019-01980-3. Epub 2019 Feb 18.
818 Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S193-7. doi: 10.1007/s10545-007-0788-3. Epub 2008 Apr 15.
819 Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. Am J Hum Genet. 2017 Nov 2;101(5):824-832. doi: 10.1016/j.ajhg.2017.09.015. Epub 2017 Oct 26.
820 Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.Eur J Pediatr. 2014 Jul;173(7):967-9. doi: 10.1007/s00431-014-2339-x. Epub 2014 May 27.
821 PHD fingers in human diseases: disorders arising from misinterpreting epigenetic marks.Mutat Res. 2008 Dec 1;647(1-2):3-12. doi: 10.1016/j.mrfmmm.2008.07.004. Epub 2008 Jul 17.
822 De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PLoS Genet. 2018 Nov 30;14(11):e1007671. doi: 10.1371/journal.pgen.1007671. eCollection 2018 Nov.
823 Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.Am J Hum Genet. 2020 Feb 6;106(2):246-255. doi: 10.1016/j.ajhg.2020.01.002. Epub 2020 Jan 30.
824 Mutations in RARS cause hypomyelination. Ann Neurol. 2014 Jul;76(1):134-9. doi: 10.1002/ana.24167. Epub 2014 May 16.
825 The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome. Clin Genet. 2015 Oct;88(4):386-90. doi: 10.1111/cge.12511. Epub 2014 Dec 5.
826 Identification of novel genetic causes of Rett syndrome-like phenotypes. J Med Genet. 2016 Mar;53(3):190-9. doi: 10.1136/jmedgenet-2015-103568. Epub 2016 Jan 6.
827 A new overgrowth syndrome is due to mutations in RNF125. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.
828 A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.Eur J Med Genet. 2018 Feb;61(2):89-93. doi: 10.1016/j.ejmg.2017.10.011. Epub 2017 Oct 21.
829 An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.J Hum Genet. 2013 Nov;58(11):755-7. doi: 10.1038/jhg.2013.88. Epub 2013 Aug 29.
830 Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. J Med Genet. 2011 Sep;48(9):610-7. doi: 10.1136/jmg.2010.088328. Epub 2011 Mar 4.
831 Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.Am J Med Genet A. 2018 Sep;176(9):2009-2016. doi: 10.1002/ajmg.a.40427. Epub 2018 Jul 31.
832 RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.Brain. 2018 Apr 1;141(4):961-970. doi: 10.1093/brain/awy045.
833 Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.JIMD Rep. 2019;44:79-84. doi: 10.1007/8904_2018_127. Epub 2018 Aug 11.
834 Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.J Neurol. 2014 Feb;261(2):373-81. doi: 10.1007/s00415-013-7206-6. Epub 2013 Dec 13.
835 A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders.J Neurodev Disord. 2018 Apr 17;10(1):15. doi: 10.1186/s11689-018-9233-1.
836 A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. Am J Hum Genet. 2019 Apr 4;104(4):596-610. doi: 10.1016/j.ajhg.2019.02.001. Epub 2019 Mar 14.
837 Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects.Nat Commun. 2019 Jul 4;10(1):2966. doi: 10.1038/s41467-019-10849-y.
838 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.Am J Med Genet A. 2017 Feb;173(2):414-420. doi: 10.1002/ajmg.a.38030. Epub 2016 Nov 7.
839 Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.Brain. 2016 Feb;139(Pt 2):317-37. doi: 10.1093/brain/awv371. Epub 2015 Dec 29.
840 Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome.Nat Med. 2013 Apr;19(4):473-80. doi: 10.1038/nm.3117. Epub 2013 Mar 24.
841 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet. 2016 Sep 1;99(3):711-719. doi: 10.1016/j.ajhg.2016.06.029. Epub 2016 Aug 18.
842 The SORCS3 gene is mutated in brothers with infantile spasms and intellectual disability.Discov Med. 2018 Oct;26(143):147-153.
843 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. Am J Hum Genet. 2019 Feb 7;104(2):246-259. doi: 10.1016/j.ajhg.2018.12.014. Epub 2019 Jan 17.
844 Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review.Horm Res Paediatr. 2019;92(6):382-389. doi: 10.1159/000503784. Epub 2019 Nov 1.
845 Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20.
846 Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia.Neurodegener Dis. 2016;16(5-6):373-81. doi: 10.1159/000444715. Epub 2016 Jun 18.
847 Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders.Front Mol Neurosci. 2017 Jun 30;10:212. doi: 10.3389/fnmol.2017.00212. eCollection 2017.
848 Regulation of synaptic architecture and synaptic vesicle pools by Nervous wreck at Drosophila Type 1b glutamatergic synapses.Exp Mol Med. 2018 Mar 23;50(3):e462. doi: 10.1038/emm.2017.303.
849 The intellectual disability gene PQBP1 rescues Alzheimer's disease pathology.Mol Psychiatry. 2018 Oct;23(10):2090-2110. doi: 10.1038/s41380-018-0253-8. Epub 2018 Oct 3.
850 A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9.Glycobiology. 2020 Jan 28;30(2):95-104. doi: 10.1093/glycob/cwz079.
851 Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability.Eur J Med Genet. 2015 Feb;58(2):116-21. doi: 10.1016/j.ejmg.2014.10.002. Epub 2014 Oct 24.
852 Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay. Am J Med Genet A. 2016 May;170A(5):1325-9. doi: 10.1002/ajmg.a.37579. Epub 2016 Feb 2.
853 Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. Genet Med. 2019 Aug;21(8):1790-1796. doi: 10.1038/s41436-018-0415-8. Epub 2019 Jan 4.
854 SYNGAP1 mutations: Clinical, genetic, and pathophysiological features.Int J Dev Neurosci. 2019 Nov;78:65-76. doi: 10.1016/j.ijdevneu.2019.08.003. Epub 2019 Aug 24.
855 Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder.Neurobiol Dis. 2017 Dec;108:298-306. doi: 10.1016/j.nbd.2017.08.021. Epub 2017 Sep 5.
856 SYT1-associated neurodevelopmental disorder: a case series. Brain. 2018 Sep 1;141(9):2576-2591. doi: 10.1093/brain/awy209.
857 Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.Seizure. 2019 Mar;66:81-85. doi: 10.1016/j.seizure.2018.12.021. Epub 2018 Dec 23.
858 Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. Am J Hum Genet. 2017 Mar 2;100(3):555-561. doi: 10.1016/j.ajhg.2017.01.032.
859 Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb;125(2):636-51. doi: 10.1172/JCI77435. Epub 2015 Jan 9.
860 Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.Clin Genet. 2017 Sep;92(3):306-317. doi: 10.1111/cge.13003. Epub 2017 May 18.
861 Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.Open Biol. 2015 Jun;5(6):150047. doi: 10.1098/rsob.150047.
862 Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. Am J Hum Genet. 2016 Oct 6;99(4):962-973. doi: 10.1016/j.ajhg.2016.08.003. Epub 2016 Sep 22.
863 Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.Ann Neurol. 2018 Jan;83(1):153-165. doi: 10.1002/ana.25130.
864 De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0.
865 TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations.J Hum Genet. 2009 Jun;54(6):331-4. doi: 10.1038/jhg.2009.34. Epub 2009 Apr 17.
866 Tectonic gene mutations in patients with Joubert syndrome.Eur J Hum Genet. 2015 May;23(5):616-20. doi: 10.1038/ejhg.2014.160. Epub 2014 Aug 13.
867 TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.Eur J Paediatr Neurol. 2016 Jan;20(1):69-79. doi: 10.1016/j.ejpn.2015.10.003. Epub 2015 Oct 22.
868 A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. Am J Hum Genet. 2016 May 5;98(5):909-918. doi: 10.1016/j.ajhg.2016.03.014. Epub 2016 Apr 28.
869 Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum.Eur J Med Genet. 2019 Jan;62(1):61-64. doi: 10.1016/j.ejmg.2018.05.004. Epub 2018 May 9.
870 Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.Hum Mutat. 2016 Nov;37(11):1157-1161. doi: 10.1002/humu.23060. Epub 2016 Aug 30.
871 Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures.Cytogenet Genome Res. 2015;146(2):115-119. doi: 10.1159/000438502. Epub 2015 Aug 13.
872 Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.Hum Mutat. 2018 Aug;39(8):1126-1138. doi: 10.1002/humu.23557. Epub 2018 Jun 14.
873 First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India.Eur J Med Genet. 2020 Mar;63(3):103742. doi: 10.1016/j.ejmg.2019.103742. Epub 2019 Aug 14.
874 Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001.
875 Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2257-2266. doi: 10.1016/j.bbadis.2019.05.002. Epub 2019 May 7.
876 The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.PLoS One. 2011;6(8):e23350. doi: 10.1371/journal.pone.0023350. Epub 2011 Aug 15.
877 Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain. 2020 Jan 1;143(1):112-130. doi: 10.1093/brain/awz374.
878 The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.Eur J Hum Genet. 2018 Jan;26(1):143-148. doi: 10.1038/s41431-017-0018-x. Epub 2017 Nov 29.
879 Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16.
880 De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.
881 TRMT1-Catalyzed tRNA Modifications Are Required for Redox Homeostasis To Ensure Proper Cellular Proliferation and Oxidative Stress Survival.Mol Cell Biol. 2017 Oct 13;37(21):e00214-17. doi: 10.1128/MCB.00214-17. Print 2017 Nov 1.
882 tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.Diabet Med. 2016 Sep;33(9):e21-5. doi: 10.1111/dme.13024.
883 Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.Clin Endocrinol (Oxf). 2018 Mar;88(3):425-431. doi: 10.1111/cen.13535. Epub 2018 Jan 10.
884 Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28.
885 Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.Pediatr Neurol. 2019 Jul;96:58-63. doi: 10.1016/j.pediatrneurol.2019.03.003. Epub 2019 Mar 13.
886 A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.PLoS Genet. 2018 May 16;14(5):e1007386. doi: 10.1371/journal.pgen.1007386. eCollection 2018 May.
887 A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability.Eur J Med Genet. 2019 Dec;62(12):103586. doi: 10.1016/j.ejmg.2018.11.020. Epub 2018 Nov 22.
888 Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.J Child Neurol. 2019 Feb;34(2):74-80. doi: 10.1177/0883073818811223. Epub 2018 Nov 28.
889 A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.Eur J Med Genet. 2017 Jun;60(6):345-351. doi: 10.1016/j.ejmg.2017.04.006. Epub 2017 Apr 13.
890 Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.Clin Genet. 2015 May;87(5):492-5. doi: 10.1111/cge.12413. Epub 2014 May 22.
891 The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.Hum Mutat. 2018 Dec;39(12):2008-2024. doi: 10.1002/humu.23647. Epub 2018 Sep 19.
892 Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.Clin Genet. 2015 May;87(5):478-82. doi: 10.1111/cge.12407. Epub 2014 May 20.
893 AMPA Receptor Dysregulation and Therapeutic Interventions in a Mouse Model of CDKL5 Deficiency Disorder.J Neurosci. 2019 Jun 12;39(24):4814-4828. doi: 10.1523/JNEUROSCI.2041-18.2019. Epub 2019 Apr 5.
894 Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function.Neuropediatrics. 2013 Oct;44(5):268-71. doi: 10.1055/s-0033-1333874. Epub 2013 Feb 22.
895 IQSEC2-Associated Intellectual Disability and Autism.Int J Mol Sci. 2019 Jun 21;20(12):3038. doi: 10.3390/ijms20123038.
896 Functional Analysis of Genetic Variation in the SECIS Element of Thyroid Hormone Activating Type 2 Deiodinase.J Clin Endocrinol Metab. 2019 May 1;104(5):1369-1377. doi: 10.1210/jc.2018-01605.
897 DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.Eur J Hum Genet. 2018 Dec;26(12):1867-1870. doi: 10.1038/s41431-018-0237-9. Epub 2018 Aug 23.
898 Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability.J Hum Genet. 2019 May;64(5):421-426. doi: 10.1038/s10038-019-0570-z. Epub 2019 Feb 21.
899 Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.Hum Mutat. 2015 Sep;36(9):842-50. doi: 10.1002/humu.22816. Epub 2015 Jun 30.
900 Brpf1 Haploinsufficiency Impairs Dendritic Arborization and Spine Formation, Leading to Cognitive Deficits.Front Cell Neurosci. 2019 Jun 4;13:249. doi: 10.3389/fncel.2019.00249. eCollection 2019.
901 Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.Hum Mutat. 1998;12(4):259-66. doi: 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A.
902 Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.PLoS One. 2017 Apr 17;12(4):e0175962. doi: 10.1371/journal.pone.0175962. eCollection 2017.
903 Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.Eur J Hum Genet. 2019 Apr;27(4):582-593. doi: 10.1038/s41431-018-0298-9. Epub 2019 Jan 8.
904 KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome.Am J Med Genet A. 2018 Jul;176(7):1602-1609. doi: 10.1002/ajmg.a.38723. Epub 2018 May 7.
905 Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development.PLoS Genet. 2018 Nov 26;14(11):e1007817. doi: 10.1371/journal.pgen.1007817. eCollection 2018 Nov.
906 Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.Mov Disord. 2019 Oct;34(10):1516-1527. doi: 10.1002/mds.27771. Epub 2019 Jun 19.
907 LETM1 is required for mitochondrial homeostasis and cellular viability (Review).Mol Med Rep. 2019 May;19(5):3367-3375. doi: 10.3892/mmr.2019.10041. Epub 2019 Mar 15.
908 Pharmacotherapy for mood and anxiety disorders in older people with intellectual disability in comparison with the general population.BMC Psychiatry. 2019 Aug 1;19(1):238. doi: 10.1186/s12888-019-2191-7.
909 The role of MAGT1 in genetic syndromes.Magnes Res. 2015 Jun;28(2):46-55.
910 Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.J Mol Neurosci. 2020 Mar;70(3):320-327. doi: 10.1007/s12031-019-01415-8.
911 Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. J Med Genet. 2015 Feb;52(2):123-7. doi: 10.1136/jmedgenet-2014-102793. Epub 2014 Dec 19.
912 Role of Wdr45b in maintaining neural autophagy and cognitive function.Autophagy. 2020 Apr;16(4):615-625. doi: 10.1080/15548627.2019.1632621. Epub 2019 Jun 25.
913 Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.Am J Med Genet A. 2017 Apr;173(4):1009-1016. doi: 10.1002/ajmg.a.38120.
914 Structure-function relationships in the Nab2 polyadenosine-RNA binding Zn finger protein family.Protein Sci. 2019 Mar;28(3):513-523. doi: 10.1002/pro.3565. Epub 2019 Jan 16.
915 Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability.Hum Mol Genet. 2018 Mar 1;27(5):891-900. doi: 10.1093/hmg/ddy009.
916 Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.BMC Med Genomics. 2018 Dec 19;11(1):123. doi: 10.1186/s12920-018-0446-7.
917 Neuronal Growth and Behavioral Alterations in Mice Deficient for the Psychiatric Disease-Associated Negr1 Gene.Front Mol Neurosci. 2018 Feb 9;11:30. doi: 10.3389/fnmol.2018.00030. eCollection 2018.
918 NEXMIF/KIDLIA Knock-out Mouse Demonstrates Autism-Like Behaviors, Memory Deficits, and Impairments in Synapse Formation and Function.J Neurosci. 2020 Jan 2;40(1):237-254. doi: 10.1523/JNEUROSCI.0222-19.2019. Epub 2019 Nov 8.
919 Variants in nuclear factor I genes influence growth and development.Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):611-626. doi: 10.1002/ajmg.c.31747. Epub 2019 Nov 15.
920 Genome-wide SNP array analysis in patients with features of sotos syndrome.Horm Res Paediatr. 2010;73(4):265-74. doi: 10.1159/000284391. Epub 2010 Mar 9.
921 Dosage Counts: Correcting Trisomy-21-Related Phenotypes in Human Organoids and Xenografts.Cell Stem Cell. 2019 Jun 6;24(6):835-836. doi: 10.1016/j.stem.2019.05.009.
922 The transcriptional coactivator and histone acetyltransferase CBP regulates neural precursor cell development and migration.Acta Neuropathol Commun. 2019 Dec 5;7(1):199. doi: 10.1186/s40478-019-0849-5.
923 Epigenetic profiling of ADHD symptoms trajectories: a prospective, methylome-wide study.Mol Psychiatry. 2017 Feb;22(2):250-256. doi: 10.1038/mp.2016.85. Epub 2016 May 24.
924 Altered Behaviors and Impaired Synaptic Function in a Novel Rat Model With a Complete Shank3 Deletion.Front Cell Neurosci. 2019 Mar 26;13:111. doi: 10.3389/fncel.2019.00111. eCollection 2019.
925 SFI1 promotes centriole duplication by recruiting USP9X to stabilize the microcephaly protein STIL.J Cell Biol. 2019 Jul 1;218(7):2185-2197. doi: 10.1083/jcb.201803041. Epub 2019 Jun 13.
926 Behavioral and Emotional Problems in Early-Treated Brazilian Children and Adolescents with Phenylketonuria.Med Sci Monit. 2018 Oct 30;24:7759-7769. doi: 10.12659/MSM.909146.
927 Spatial and temporal localization during embryonic and fetal human development of the transcription factor SIM2 in brain regions altered in Down syndrome.Int J Dev Neurosci. 2005 Aug;23(5):475-84. doi: 10.1016/j.ijdevneu.2005.05.004.
928 Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability.Clin Genet. 2018 Jun;93(6):1229-1233. doi: 10.1111/cge.13235. Epub 2018 Mar 9.
929 A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.PLoS Genet. 2019 Oct 31;15(10):e1008460. doi: 10.1371/journal.pgen.1008460. eCollection 2019 Oct.
930 SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. Am J Hum Genet. 2010 Nov 12;87(5):694-700. doi: 10.1016/j.ajhg.2010.10.005. Epub 2010 Oct 28.
931 Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.Hum Mol Genet. 2018 Jun 15;27(12):2171-2186. doi: 10.1093/hmg/ddy126.
932 A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability.Am J Med Genet A. 2019 May;179(5):832-836. doi: 10.1002/ajmg.a.61093. Epub 2019 Feb 25.
933 Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.Clin Genet. 2018 May;93(5):1049-1056. doi: 10.1111/cge.13202. Epub 2018 Mar 23.
934 The O-GlcNAc Transferase Intellectual Disability Mutation L254F Distorts the TPR Helix.Cell Chem Biol. 2018 May 17;25(5):513-518.e4. doi: 10.1016/j.chembiol.2018.03.004. Epub 2018 Mar 29.
935 tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.