General Information of Disease (ID: DISXK8NV)

Disease Name Autism spectrum disorder
Synonyms atypical autism; pervasive developmental disorders; autistic spectrum disorder; pervasive developmental disorder - not otherwise specified; autism spectrum disorder
Disease Class 6A02: Autism spectrum disorder
Definition A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.
Disease Hierarchy
DIS51975: Pervasive developmental disorder
DISXK8NV: Autism spectrum disorder
ICD Code
ICD-11
ICD-11: 6A02
ICD-10
ICD-10: F84.0
ICD-9
ICD-9: 299
Expand ICD-11
'6A02
Expand ICD-10
'F84.0
Expand ICD-9
299
Disease Identifiers
MONDO ID
MONDO_0005258
MESH ID
D000067877
UMLS CUI
C1510586
MedGen ID
307153
Orphanet ID
106

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 2 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Daprodustat DMRNGD2 Approved Small molecular drug [1]
Oxytocin DMDL27I Approved Small molecular drug [2]
------------------------------------------------------------------------------------
This Disease is Treated as An Indication in 11 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Balovaptan DMKMTDG Phase 3 Small molecular drug [3]
CM-AT DMLMN2F Phase 3 NA [4]
CP101 DM8X5Q1 Phase 2 Small molecular drug [5]
L1-79 DMLHPVW Phase 2 NA [6]
P32/98 DMW1OI6 Phase 2 Small molecular drug [7]
RG7314 DMB4M6O Phase 2 NA [8]
SSTarbaclofen DMRGTZ2 Phase 2 NA [9]
STX-107 DMLNKX7 Phase 2 Small molecular drug [10]
AB-2004 DMORZPE Phase 1 Small molecular drug [11]
CYP2001 DM0842B Phase 1 NA [12]
RG-7816 DMD16JK Phase 1 NA [13]
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⏷ Show the Full List of 11 Drug(s)
This Disease is Treated as An Indication in 2 Investigative Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
KM-391 DM4ZC70 Investigative NA [14]
NX-201 DMLFA3T Investigative NA [14]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 437 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VEZF1 OTCE1K4J Limited Autosomal dominant [15]
WDR93 OTD141UJ Limited Autosomal recessive [15]
XRCC6 OTMTIMTU Limited Autosomal dominant [15]
YTHDC1 OTFMR3TF Limited Autosomal dominant [15]
ZC3H12B OT306E8G Limited Autosomal dominant [15]
ZMYND8 OTPMXPRH Limited Autosomal dominant [15]
ZWILCH OTQIJR7S Limited Autosomal dominant [15]
WDFY3 OTJAA5UZ Moderate Autosomal dominant [15]
ADGRG4 OTLT3IM8 Limited Autosomal dominant [15]
AFF2 OTMF1PZW Limited Genetic Variation [199]
AGMO OTGMAHAT Limited Autosomal dominant [15]
AP1S2 OTZHJFYI Limited X-linked [15]
AP2S1 OTEV2XGW Limited Autosomal dominant [15]
ARHGEF38 OTA6K93F Limited Autosomal dominant [15]
ARID4B OTYLPILE Limited Altered Expression [200]
ASTN2 OTF0W2FJ Limited Autosomal dominant [15]
ASXL3 OTNDJWEZ Limited Biomarker [201]
BAZ1B OTD5KR2J Limited Autosomal dominant [15]
BST1 OTAV5SE7 Limited Genetic Variation [202]
C4orf3 OT6TFN1O Limited Biomarker [203]
CADM1 OTRWG9QS Limited Autosomal dominant [15]
CADPS2 OTV1FW0M Limited Genetic Variation [204]
CAPRIN1 OTEJAMS3 Limited Autosomal dominant [15]
CASK OT8EF7ZF Limited Biomarker [205]
CCDC91 OTLZNXDL Limited Autosomal dominant [15]
CHD5 OTS5EVHH Limited Biomarker [206]
CLOCK OTNEOJY7 Limited Biomarker [207]
CMIP OTZN8Z4A Limited Biomarker [208]
CNTNAP3 OTIN65PT Limited Biomarker [209]
CORO1A OTVAZOHC Limited Autosomal dominant [15]
CSMD1 OTIVDSC4 Limited Autosomal dominant [15]
CTTNBP2 OT4CL1EW Limited Autosomal dominant [15]
DAPK1 OTNCNUCO Limited Autosomal dominant [15]
DDX53 OTHK3EGZ Limited Biomarker [210]
DGCR6 OTBOXM33 Limited Biomarker [211]
DIP2A OTXPTR8R Limited Autosomal dominant [15]
DIPK2A OTL1DBIM Limited Biomarker [212]
DLX6 OT0FIJHY Limited Autosomal dominant [15]
DMXL2 OTB4JWN3 Limited Genetic Variation [213]
DPP6 OTWW3H0K Limited Genetic Variation [214]
EEF1A2 OT9Z23K5 Limited Biomarker [215]
ELAVL2 OT6EJ8MQ Limited Genetic Variation [92]
ELMOD3 OTLBB4DJ Limited Biomarker [216]
ESCO2 OTJEMAQU Limited Biomarker [217]
FAM107A OTBG61YZ Limited Altered Expression [201]
FBLIM1 OTFHXMON Limited Genetic Variation [218]
FBXO31 OTF96IC2 Limited Genetic Variation [219]
FOXF1 OT2CJZ5K Limited Genetic Variation [219]
GLRA2 OTDQ0KW7 Limited Biomarker [220]
GPR37 OTIMDDI3 Limited Genetic Variation [221]
GRP OT8JDFNI Limited Biomarker [222]
HOXA1 OTMSOJ7D Limited Genetic Variation [223]
INTU OTXB13E6 Limited Biomarker [224]
KCTD13 OTSKZ1KM Limited Genetic Variation [225]
KLRC2 OTT4N86S Limited Altered Expression [226]
MRTFB OT9OXGS9 Limited Genetic Variation [227]
MSX2 OT1WDKE1 Limited Biomarker [228]
NEXMIF OT576F40 Limited Biomarker [229]
NRXN3 OTJ0I7HJ Limited Biomarker [230]
NUFIP2 OTZBZ224 Limited Biomarker [231]
PITX3 OTE2KT8P Limited Biomarker [232]
PLAC8 OT3SYRUJ Limited Altered Expression [233]
PRICKLE1 OT9HHEM9 Limited Genetic Variation [234]
PRICKLE2 OTWBA48T Limited Genetic Variation [235]
PSMD12 OTWICA51 Limited Genetic Variation [236]
PTCHD3 OTFQ1VGM Limited Genetic Variation [237]
RAI1 OTKLQU00 Limited Genetic Variation [238]
RBFOX1 OTFPKEL7 Limited Biomarker [239]
RFX3 OTE0EI8Z Limited Autosomal dominant [15]
RIMS1 OT10T7CK Limited Autosomal dominant [240]
SAA2 OTYAVJWG Limited Genetic Variation [26]
SCRIB OTW4N3FV Limited Autosomal dominant [15]
SH2D6 OTT8DXKS Limited Genetic Variation [216]
SLC7A3 OTKEFAHV Limited Autosomal dominant [15]
SMARCA2 OTSGJ8SV Limited Genetic Variation [241]
SOX3 OT1CRCOB Limited Genetic Variation [242]
STX1A OTSBUZB4 Limited Genetic Variation [243]
STXBP1 OTRYA8C3 Limited Autosomal dominant [15]
SYNGAP1 OT41HVYQ Limited Biomarker [244]
TAOK2 OTNUMOZ1 Limited Autosomal dominant [15]
TBR1 OT14JQT8 Limited Biomarker [245]
TCF4 OTB9ASTK Limited Autosomal dominant [15]
TLK1 OTICTXI8 Limited Biomarker [246]
TLK2 OTZ09CG8 Limited Genetic Variation [246]
TM9SF4 OT85D4H9 Limited Autosomal dominant [15]
TNPO3 OTOT3HH0 Limited Biomarker [247]
TSHZ3 OTAN7RY5 Limited Autosomal dominant [15]
AVPR1A OTKR8AFL Disputed Unknown [32]
CER1 OTTAJJ63 Disputed Biomarker [248]
CLN8 OT0D4CB5 Disputed Autosomal dominant [15]
CNTN4 OTULXVE0 Disputed Autosomal dominant [249]
LAMC3 OTKNAYJO Disputed Biomarker [250]
SLC6A4 OT6FGDLW Disputed Autosomal dominant [32]
SLC9A9 OT00PCW3 Disputed Autosomal dominant [32]
TMLHE OTH4ZLJP Disputed X-linked [32]
CAPG OTJ86KI6 moderate Altered Expression [251]
CDKL5 OTGL5HRV moderate Biomarker [252]
CEP41 OTKZTBOX moderate Genetic Variation [253]
DIPK2B OT6MK0VT moderate Biomarker [254]
DSCAM OTL7PRMK Moderate Autosomal dominant [15]
EBPL OT59J1GY moderate Biomarker [34]
GDI1 OTYM3928 moderate Genetic Variation [255]
GPR50 OT0EJBM4 moderate Biomarker [256]
HEPACAM OT1MJ51D moderate Genetic Variation [122]
HMGN1 OTSMGH99 moderate Altered Expression [257]
KIRREL3 OTW7PENS moderate Genetic Variation [258]
KLF16 OTTPV4NB moderate Genetic Variation [259]
LAMB1 OT6J9LJR moderate Genetic Variation [260]
LGALS7 OTMSVI7R moderate Biomarker [261]
MEF2C OTZGF1Y5 moderate CausalMutation [122]
MSANTD2 OTDNNUJZ moderate Genetic Variation [259]
NRXN2 OTB04QSU moderate Biomarker [262]
PPP2R5D OT43TTX0 moderate Genetic Variation [263]
RYR2 OT0PF19E moderate Genetic Variation [197]
SETDB1 OTWVUA1B moderate Biomarker [264]
SLU7 OTZUUICN moderate Biomarker [265]
SYN1 OTMNPWC1 moderate Biomarker [86]
TSC1 OTFF4YZ7 moderate Altered Expression [33]
AANAT OTUBJ7SX Strong Biomarker [266]
ABCA13 OTTHTUQN Strong Genetic Variation [267]
ACAN OTUOCW8K Strong Biomarker [268]
ACSM3 OT0AE1IV Strong Biomarker [93]
ACTC1 OTJU04B1 Strong Genetic Variation [269]
ADNP OTEGICWR Strong Genetic Variation [270]
AGFG1 OTI8ZKC4 Strong Biomarker [271]
AIFM1 OTKPWB7Q Strong Altered Expression [272]
ALDH1A3 OT1C9NKQ Strong Genetic Variation [273]
AMT OTQYEWZQ Strong Genetic Variation [274]
AMY1A OT6G4B8O Strong Altered Expression [275]
ANK2 OTWB4R1Y Strong Genetic Variation [276]
ANK3 OTJ3IRBP Strong Genetic Variation [277]
ANKRD11 OTV0V70M Strong Biomarker [278]
APBA2 OTXD8ID1 Strong Genetic Variation [279]
APOC1 OTA58CED Strong Biomarker [81]
APOD OTT77XW8 Strong Biomarker [280]
ARFGEF1 OTPAU0L4 Strong Biomarker [281]
ARHGAP32 OTBWBGUB Strong Genetic Variation [282]
ARHGEF10 OTHJ1Y4I Strong Biomarker [283]
ARHGEF15 OTGHDJFP Strong Genetic Variation [284]
ARHGEF5 OTUVGFT9 Strong Genetic Variation [285]
ARHGEF9 OTB1FLIW Strong Genetic Variation [286]
ARID1B OTILK3Q7 Strong Genetic Variation [287]
ARID2 OTIRJXWM Strong Biomarker [281]
ARNT2 OTAQD3YV Strong Biomarker [288]
ARX OTBGYH25 Strong Genetic Variation [289]
ASH1L OTUT5NLJ Strong Genetic Variation [290]
ATP13A2 OTKWBUGK Strong Biomarker [291]
ATP13A4 OTJYVW1I Strong Biomarker [291]
ATP2B2 OT1NPZ9T Strong Genetic Variation [292]
ATP8A1 OT2B7XBT Strong Biomarker [293]
AUTS2 OTAEXHSC Strong Genetic Variation [294]
B3GLCT OTXH6KOQ Strong Biomarker [295]
BAG1 OTRQNIA4 Strong Biomarker [296]
BAIAP2 OT1KKMYZ Strong Biomarker [297]
BRINP1 OTEUVSCP Strong Altered Expression [298]
CADPS OTAJF6QN Strong Genetic Variation [299]
CALB2 OTSNMCG9 Strong Biomarker [300]
CAMK2A OTJGX19T Strong Genetic Variation [301]
CAMK4 OT47RDGV Strong Biomarker [92]
CAPS2 OT45M743 Strong Biomarker [302]
CARS2 OTGLZOFP Strong Genetic Variation [303]
CBLN2 OT29SSBE Strong Biomarker [304]
CC2D1A OTVPU04K Strong Biomarker [305]
CCL7 OTDIS99H Strong Biomarker [306]
CD5L OTPY4WQR Strong Biomarker [58]
CD79A OTOJC8DV Strong Biomarker [307]
CDCA5 OTZLCQ5U Strong Biomarker [308]
CDH10 OTK3D5WP Strong Biomarker [250]
CDH13 OTD2CYM5 Strong Biomarker [309]
CDH8 OTS3SRZ6 Strong Genetic Variation [310]
CDH9 OTV9N5XK Strong Altered Expression [59]
CDX2 OTCG4TSY Strong Genetic Variation [311]
CELF4 OT4FS4F5 Strong Biomarker [312]
CHD2 OTRKL6YC Strong Biomarker [250]
CHD7 OTHNIZWZ Strong Biomarker [206]
CIC OTFXCHNZ Strong Biomarker [313]
CIRBP OTXWTPBL Strong Biomarker [71]
CLDN12 OTO55YZI Strong Biomarker [314]
CLDN5 OTUX60YO Strong Biomarker [314]
CLEC7A OTRTBH27 Strong Genetic Variation [315]
CLIP1 OTTGAEJE Strong Biomarker [316]
CNTN5 OTWU5FLZ Strong Biomarker [317]
CNTN6 OTXVGVOR Strong Biomarker [318]
CNTNAP4 OTKXR9AW Strong Biomarker [319]
CNTNAP5 OTF0AAJD Strong Genetic Variation [320]
COBLL1 OTQFN1TC Strong Genetic Variation [321]
COL9A3 OTCUJOEK Strong Biomarker [272]
COMMD1 OT7WUD5R Strong Altered Expression [322]
CPEB4 OTW1SCZW Strong Biomarker [323]
CTNND2 OTYKE30Y Strong Genetic Variation [324]
CUX1 OTU1LCNJ Strong Biomarker [281]
CUX2 OTDJTQAJ Strong Genetic Variation [325]
CYFIP1 OTOBEH24 Strong Genetic Variation [326]
DAB1 OTPL9MA3 Strong Biomarker [327]
DAOA OT7NFEO6 Strong Genetic Variation [328]
DBI OT884QY9 Strong Biomarker [329]
DCD OTV5PBGJ Strong Altered Expression [330]
DDHD1 OTWTHOWK Strong Biomarker [38]
DDT OTF5HTYL Strong Biomarker [331]
DEAF1 OTCLX3ZW Strong Biomarker [45]
DEPDC5 OTE70JLY Strong Genetic Variation [332]
DGCR2 OTEGL17Z Strong Biomarker [272]
DIO2 OTGPNSLH Strong Biomarker [71]
DISC1 OT43AW4H Strong Genetic Variation [333]
DLGAP1 OTF2PUUI Strong Genetic Variation [334]
DLGAP4 OTNELLIN Strong Biomarker [334]
DLX1 OT7BH057 Strong Biomarker [335]
DLX2 OTKC2DQ0 Strong Genetic Variation [336]
DLX5 OTEEFBEU Strong Biomarker [337]
DOCK4 OTH3XY8B Strong Biomarker [338]
DPYSL3 OTINJV20 Strong Biomarker [339]
DST OTHZBM4X Strong Biomarker [331]
DTNA OTVBIRH2 Strong Biomarker [340]
EFCAB5 OTKVCIP6 Strong Genetic Variation [341]
ELMOD1 OT0WRVJC Strong Biomarker [342]
ELOVL2 OTDAF6U3 Strong Genetic Variation [83]
ELP4 OTP5GZ9V Strong Genetic Variation [343]
EN2 OT7EZCM2 Strong Biomarker [344]
EPS8 OTZ6ES6V Strong Altered Expression [345]
ERC1 OTYBGGNO Strong Biomarker [346]
ERMN OTS3PBOH Strong Biomarker [136]
ERVMER34-1 OTECWJ0Y Strong Altered Expression [347]
EYA1 OTHU807A Strong Biomarker [348]
FABP7 OTRE2H4G Strong Biomarker [82]
FAM120C OT2DH1SN Strong Biomarker [349]
FAN1 OT1LM1HZ Strong Biomarker [350]
FEV OTYEC4IR Strong Genetic Variation [38]
FEZF2 OTU4TXIW Strong Biomarker [351]
FGA OTMIHY80 Strong Biomarker [81]
FNDC3A OTUX3S2I Strong Biomarker [352]
FOXE3 OTAUDKC1 Strong Genetic Variation [353]
FOXG1 OTAW57J4 Strong Biomarker [354]
FOXN1 OTE80D6I Strong Genetic Variation [273]
FOXP2 OTVX6A59 Strong Biomarker [355]
FUZ OTC427QQ Strong Biomarker [356]
GABRA4 OT5I7OI2 Strong Genetic Variation [357]
GABRB3 OT80C3D4 Strong Altered Expression [358]
GABRG1 OT1NGUYY Strong Biomarker [359]
GALNT17 OTMF0W2U Strong Genetic Variation [360]
GNB1L OTXSUD8R Strong Biomarker [361]
GPHN OTAKK1SV Strong Genetic Variation [362]
GPR155 OT2ZCDS7 Strong Biomarker [363]
GTF2I OTUYL1TQ Strong Biomarker [364]
H1-4 OTQ450A3 Strong Genetic Variation [365]
HAVCR1 OT184CRZ Strong Genetic Variation [285]
HERC1 OT73FVYZ Strong Biomarker [366]
HERC2 OTNQYKOB Strong Genetic Variation [367]
HEY1 OTJQL0I3 Strong Biomarker [368]
HFE OTDD93KB Strong Biomarker [159]
HLA-DPA1 OT7OG7Y2 Strong Genetic Variation [369]
HNRNPU OTLQN1E2 Strong Genetic Variation [370]
HOXB8 OTKHOD17 Strong Biomarker [371]
HOXD11 OT9XGA4G Strong Genetic Variation [372]
HTR3C OT65ZLIJ Strong Genetic Variation [373]
IL17RA OTVVI8ER Strong Altered Expression [374]
IL1RAPL2 OTP7IOJO Strong Biomarker [146]
IQCB1 OTYQ28V9 Strong Genetic Variation [375]
IQSEC2 OTYFRM4Q Strong Genetic Variation [122]
JAKMIP1 OTEUYJIG Strong Genetic Variation [376]
JARID2 OT14UM8H Strong Genetic Variation [377]
KATNAL2 OTL33OIT Strong Biomarker [378]
KIAA0319 OTN42Y77 Strong Biomarker [379]
KIF1A OT3JVEGV Strong Genetic Variation [380]
KIF21B OTFXFIU3 Strong Biomarker [381]
KLF12 OTVH4KD4 Strong Genetic Variation [382]
KMT2C OTC59BCO Strong Biomarker [79]
LBX1 OTQJHICM Strong Genetic Variation [335]
LDHB OT9B1CT3 Strong Genetic Variation [383]
LIN7B OTX1BC5B Strong Biomarker [384]
LRFN5 OTK7QZ3B Strong Altered Expression [385]
LRP2BP OTVEH7V5 Strong Biomarker [386]
LRRC4 OT7XJ70N Strong Biomarker [387]
LRRN3 OT7X0AA7 Strong Biomarker [388]
LRRTM3 OTCS7EM6 Strong Biomarker [388]
MACROD2 OTNQCHC6 Strong Genetic Variation [389]
MAGEL2 OTXEL4R7 Strong Biomarker [390]
MAPK8IP2 OTDUHLN0 Strong Biomarker [391]
MARK1 OTP7KL47 Strong Genetic Variation [392]
MBD5 OTFHT4MO Strong Genetic Variation [393]
MBNL1 OTOV7J85 Strong Genetic Variation [394]
MBOAT7 OTHRCBLK Strong Genetic Variation [395]
MCPH1 OTYT3TT5 Strong Genetic Variation [396]
MEF2A OTV2SF6E Strong Genetic Variation [397]
METTL21C OTEMLDE6 Strong Biomarker [136]
MIB1 OT5C404P Strong Genetic Variation [398]
MLF1 OTC5BKHU Strong Biomarker [168]
MNT OTPC4ANL Strong Biomarker [399]
MOCOS OT0TL3Q5 Strong Biomarker [400]
MPDZ OT9WY1QM Strong Biomarker [221]
MSN OTZJ4J6G Strong Biomarker [401]
MSX1 OT5U41ZP Strong Genetic Variation [402]
MYH10 OTXN2WXS Strong Biomarker [403]
MYO16 OTMS3D8W Strong Genetic Variation [404]
MYT1L OTV45MAS Strong Biomarker [405]
NAA15 OT53SIZG Strong Genetic Variation [406]
NANOS1 OT3UNZZY Strong Genetic Variation [407]
NBEA OTYLY5TY Strong Biomarker [231]
NBEAL1 OTLJ11N3 Strong Genetic Variation [408]
NCAM2 OT8LBJN8 Strong Biomarker [409]
NCOA6 OTOMIGTV Strong Biomarker [410]
NCOR1 OT04XNOU Strong Genetic Variation [411]
NDUFS1 OTTIZDFR Strong Altered Expression [412]
NDUFV1 OTEVK4WW Strong Genetic Variation [413]
NEGR1 OT57ECW9 Strong Biomarker [414]
NEO1 OTGJ1997 Strong Genetic Variation [379]
NFIB OTX94PD0 Strong Genetic Variation [415]
NKX2-5 OTS1SAWM Strong Genetic Variation [416]
NLGN1 OTGHRRFQ Strong Biomarker [94]
NLGN2 OTHDYL3H Strong Genetic Variation [417]
NOC2L OTNT7R33 Strong Altered Expression [418]
NOS1AP OTDFOBRU Strong Genetic Variation [419]
NRCAM OT80HHQ2 Strong Biomarker [420]
NRIP1 OTIZOJQV Strong Biomarker [421]
NRXN1 OTJN1JQA Strong Genetic Variation [279]
NSUN2 OTZCNM33 Strong Biomarker [38]
NTM OTHF0UQU Strong Genetic Variation [422]
NXPH1 OTGKX860 Strong Biomarker [107]
OLIG2 OTMCN6D3 Strong Genetic Variation [423]
OPN1MW OTPJ7LX4 Strong Biomarker [424]
OTX1 OTRGSGH9 Strong Genetic Variation [425]
OXT OT48M72Z Strong Altered Expression [426]
PAFAH1B1 OT9T2TCJ Strong Biomarker [427]
PCDH9 OTX3BFV4 Strong Biomarker [75]
PEG10 OTWD2278 Strong Biomarker [337]
PEX7 OTM7VBRC Strong Genetic Variation [274]
PHF21A OTU3FFG4 Strong Biomarker [428]
PHLDA2 OTMV9DPP Strong Biomarker [429]
PIEZO1 OTBG1FU4 Strong Genetic Variation [398]
PKD2 OTIXBU8H Strong Genetic Variation [430]
PLA1A OT2IXYNX Strong Genetic Variation [431]
PLA2G12A OTHHCQ17 Strong Genetic Variation [138]
POGZ OT4CYWC1 Strong Genetic Variation [432]
POMGNT1 OTBNOUZC Strong Genetic Variation [274]
POU3F2 OT30NFOC Strong Altered Expression [433]
PPL OTTM4WDO Strong Genetic Variation [434]
PPP1R1B OTSIJMQ9 Strong Biomarker [435]
PRKAG2 OTHTAM54 Strong Biomarker [436]
PRPF8 OTU39JZI Strong Biomarker [437]
PRRX2 OT8UR4AU Strong Altered Expression [438]
PSD OTUZIXUZ Strong Biomarker [439]
PSD4 OTEFB87Z Strong Genetic Variation [440]
PTCHD1 OTFDLU5S Strong Genetic Variation [210]
PTGES3 OTPPQWI0 Strong Biomarker [441]
PTPN4 OT6SXU5Y Strong Biomarker [442]
PTPRA OTZA82J1 Strong Biomarker [443]
PTPRG OT9N2WOF Strong Biomarker [444]
PTPRT OTV5TXNN Strong Biomarker [444]
PVALB OTZW1WVQ Strong Altered Expression [445]
RAB11FIP5 OTNA33DE Strong Genetic Variation [446]
RAB2A OT6SK83U Strong Biomarker [447]
RAB39B OTDCLLT0 Strong Genetic Variation [448]
RABEP2 OTO61X27 Strong Biomarker [449]
RANBP1 OTQE226K Strong Altered Expression [450]
RANGAP1 OTZGD3LJ Strong Genetic Variation [451]
RBFA OT69B0D9 Strong Biomarker [452]
RBFOX3 OTL0F3D6 Strong Biomarker [453]
RERE OT3G4GBZ Strong Genetic Variation [454]
REST OTLL92LQ Strong Biomarker [455]
RFC1 OT3L5PK3 Strong Genetic Variation [456]
RHCE OTS18IZ5 Strong Genetic Variation [144]
RIT2 OTSNYG0D Strong Genetic Variation [457]
RMDN1 OTE1NB6U Strong Biomarker [458]
RMDN2 OTK5WSFI Strong Biomarker [458]
RMDN3 OTKO7AUM Strong Biomarker [458]
RNF135 OT18NH5N Strong CausalMutation [122]
ROGDI OTZ7LSKJ Strong Biomarker [38]
RPL10 OTBHOZGC Strong Genetic Variation [459]
RPP25 OTEN6QN7 Strong Altered Expression [460]
RPS6 OTT4D1LN Strong Biomarker [33]
RTN3 OTGZ51QF Strong Biomarker [296]
SAFB OTGRV2LW Strong Biomarker [296]
SBF1 OTW6I9RV Strong Genetic Variation [122]
SBNO1 OTNX3RL0 Strong Biomarker [461]
SBNO2 OT1C6J3K Strong Biomarker [461]
SDC4 OTKUVUGZ Strong Biomarker [92]
SEMA3B OTCZCPMS Strong Genetic Variation [440]
SEMA3F OTQFMS8S Strong Biomarker [420]
SEMA5A OTUOIOJV Strong Biomarker [462]
SENP7 OTQJ05ZS Strong Genetic Variation [463]
SEPTIN5 OT6JTJBO Strong Biomarker [464]
SERINC2 OTZ039U0 Strong Biomarker [465]
SERPINA5 OTTZXPGD Strong Biomarker [81]
SETD1A OTVVWRIC Strong Genetic Variation [423]
SEZ6L OT5Z9CUA Strong Biomarker [466]
SFSWAP OT7H3ETA Strong Biomarker [71]
SH2D1A OTLU49I5 Strong Biomarker [45]
SHANK1 OTK8PV0S Strong Genetic Variation [467]
SIN3A OTM8OZWV Strong Biomarker [468]
SKIL OTNBXH32 Strong Biomarker [461]
SLF1 OT6ZA2K9 Strong Biomarker [469]
SLF2 OTP8V0HC Strong Biomarker [469]
SMS OT8JYKNH Strong Biomarker [470]
SNCB OTELSEK6 Strong Biomarker [157]
SND1 OTT734JN Strong Genetic Variation [471]
SNRNP70 OTP52YZ3 Strong Genetic Variation [100]
SNRPN OTQB1ID1 Strong Biomarker [472]
SNTG2 OTD8HJCD Strong Biomarker [159]
SOD3 OTIOZQAB Strong Biomarker [473]
SOX9 OTVDJFGN Strong Biomarker [368]
SPAST OTIF3AJI Strong Genetic Variation [474]
SPINT1 OT1CLR5L Strong Biomarker [475]
SRRM4 OTALUISN Strong Altered Expression [476]
ST8SIA2 OTRBBBD8 Strong Genetic Variation [477]
STAM OT6X5RR1 Strong Biomarker [478]
STX16 OTM7TAOE Strong Biomarker [136]
STX18 OTW4GF3X Strong Genetic Variation [402]
SUPT16H OT9XWMQZ Strong Genetic Variation [479]
SYBU OT3FQV7N Strong Biomarker [458]
SYN2 OTK0DEGH Strong Biomarker [86]
SYNM OTOI8TRJ Strong Biomarker [480]
SYTL4 OT7MX5IK Strong Biomarker [271]
TAAR6 OTUBUJ2N Strong Biomarker [81]
TBX1 OTQLBPRA Strong Biomarker [196]
TCF20 OT8LQAOV Strong Biomarker [481]
TCN2 OT41D0L3 Strong Genetic Variation [482]
TESC OTI8C76M Strong Genetic Variation [483]
TET1 OTZDHT1D Strong Biomarker [74]
TET3 OT76U3YF Strong Biomarker [74]
TFB2M OTG9DUU1 Strong Genetic Variation [484]
TIMELESS OTD8DCBJ Strong Genetic Variation [285]
TLL1 OTK9NM7G Strong Biomarker [485]
TMEM185A OTX1JIEM Strong Genetic Variation [486]
TMEM187 OTOE4G8T Strong Genetic Variation [271]
TOR3A OT04YLXE Strong Biomarker [487]
TPI1 OT14KP4B Strong Genetic Variation [285]
TRAPPC8 OT04JYD3 Strong Biomarker [340]
TRERF1 OTA7UQF1 Strong Biomarker [488]
TRIM32 OTJOV0PG Strong Biomarker [489]
TRIO OT71X1AK Strong Biomarker [118]
TSC2 OT47LWI9 Strong Genetic Variation [122]
TSNAX OTZ9SGWB Strong Biomarker [490]
TSPAN12 OTF9I3CX Strong Biomarker [491]
CHD4 OTBDEHDP Definitive Biomarker [206]
IQGAP3 OT4RZV2M Definitive Biomarker [250]
NEMF OT9DK06P Definitive Biomarker [250]
PCDH10 OT2GIT0E Definitive Altered Expression [492]
SETD5 OTRPAVEO Definitive Biomarker [493]
------------------------------------------------------------------------------------
⏷ Show the Full List of 437 DOT(s)
This Disease Is Related to 186 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADGRL3 TTQST3U Limited Biomarker [16]
CYP11B2 TT9MNE2 Limited Genetic Variation [17]
CYP1B1 TTI84H7 Limited Altered Expression [18]
CYP2D6 TTVG215 Limited Genetic Variation [19]
DPYD TTZPS91 Limited Genetic Variation [20]
DRD4 TTE0A2F Limited Biomarker [21]
GABRQ TTXDUR9 Limited Biomarker [22]
GREM1 TTOUZN5 Limited Biomarker [23]
HLA-G TTLKFB3 Limited Genetic Variation [24]
IRS2 TTF95B8 Limited Genetic Variation [25]
SAA1 TTY0DN9 Limited Genetic Variation [26]
SCD TT6RIOV Limited Altered Expression [27]
SCN3A TTAXZ0K Limited Genetic Variation [28]
SLC12A5 TTH6UZY Limited Biomarker [29]
SLC19A1 TT09I7D Limited Genetic Variation [30]
TBL1XR1 TTYXT16 Limited Biomarker [31]
AVPR1A TT4TFGN Disputed Unknown [32]
EIF4E TTZGCP6 moderate Altered Expression [33]
ELK3 TT5OJMV moderate Biomarker [34]
GRM5 TTHS256 moderate Biomarker [35]
KCNQ2 TTPXI3S moderate Biomarker [36]
PHB TT6U071 moderate Genetic Variation [37]
SLC1A1 TTG2A6F moderate Biomarker [38]
SNAP25 TTYQWA0 moderate Genetic Variation [39]
UBE3A TTUZX6V moderate Biomarker [23]
AADAT TTT3IXG Strong Genetic Variation [40]
ABAT TTT2LD9 Strong Biomarker [41]
ADCYAP1R1 TT5OREU Strong Altered Expression [42]
ADRA2C TT2NUT5 Strong Genetic Variation [43]
AGRP TT4DE1O Strong Biomarker [44]
APCS TTB7VAT Strong Biomarker [45]
ARHGEF3 TT1R5DZ Strong Biomarker [46]
AVPR1A TT4TFGN Strong Biomarker [47]
BACE1 TTJUNZF Strong Altered Expression [48]
BMP1 TT0L58T Strong Biomarker [49]
BUB1 TT78309 Strong Biomarker [50]
CA2 TTANPDJ Strong Biomarker [38]
CACNA1B TT4FDG6 Strong Genetic Variation [51]
CACNA1C TTZIFHC Strong Genetic Variation [52]
CACNA1D TT7RGTM Strong Genetic Variation [53]
CACNA1G TT729IR Strong Genetic Variation [54]
CACNA1H TTZPWGN Strong Genetic Variation [55]
CASP7 TTM7Y45 Strong Biomarker [56]
CD38 TTPURFN Strong Biomarker [57]
CD69 TTPQE9F Strong Biomarker [58]
CDH11 TTRGWZC Strong Altered Expression [59]
CFP TTLA0VS Strong Biomarker [60]
CHAT TTKYFSB Strong Biomarker [61]
CHM TTOA18V Strong Biomarker [49]
CHRNA4 TT4H1MQ Strong Biomarker [62]
CNTN2 TT2Z1WB Strong Genetic Variation [63]
COMT TTKWFB8 Strong Genetic Variation [64]
CPB2 TTP18AY Strong Genetic Variation [65]
CREBBP TTFRCTK Strong Biomarker [66]
CS TTZA6B3 Strong Biomarker [67]
CTSC TT4H0V2 Strong Biomarker [68]
CUL3 TTPCU0Q Strong Genetic Variation [69]
CYP11A1 TTSYVO6 Strong Biomarker [70]
CYP11B1 TTIQUX7 Strong Genetic Variation [70]
DHCR24 TTTK0NH Strong Biomarker [71]
DLG4 TT9PB26 Strong Altered Expression [72]
DNMT3A TTJUALD Strong Genetic Variation [73]
DNMT3B TT6VZ78 Strong Biomarker [74]
DNMT3L TT3FDAV Strong Biomarker [73]
DPP10 TTOVUPC Strong Genetic Variation [75]
DRD3 TT4C8EA Strong Biomarker [76]
DRD5 TTS2PH3 Strong Altered Expression [77]
DYRK1A TTSBVFO Strong Genetic Variation [78]
EHMT1 TTOFXD7 Strong Biomarker [79]
EPHA5 TTV9KOD Strong Genetic Variation [80]
FABP1 TTIV96N Strong Biomarker [81]
FABP3 TT3TGLR Strong Altered Expression [82]
FABP5 TTNT2S6 Strong Biomarker [82]
FADS2 TTT2VDU Strong Genetic Variation [83]
FOLR1 TTVC37M Strong Altered Expression [84]
FOLR2 TTT54CI Strong Genetic Variation [84]
FOXP1 TT0MUCI Strong Biomarker [85]
FYN TT2B9KF Strong Genetic Variation [86]
GABRA5 TTNZPQ1 Strong Biomarker [87]
GAD1 TTKGEP3 Strong Altered Expression [88]
GAD2 TT7UY6K Strong Biomarker [88]
GAN TT6WNG2 Strong Genetic Variation [89]
GFAP TTI6FFX Strong Biomarker [90]
GLO1 TTV9A7R Strong Genetic Variation [91]
GRIA1 TTVPQTF Strong Biomarker [92]
GRIA2 TTWM461 Strong Altered Expression [93]
GRIK2 TT0K5RG Strong Biomarker [94]
GRIK4 TTQV6BO Strong Biomarker [95]
GRIN2A TTKJEMQ Strong Biomarker [96]
GRIN2B TTN9D8E Strong Biomarker [97]
GRM1 TTVBPDM Strong Genetic Variation [98]
GRM2 TTXJ47W Strong Altered Expression [93]
GRM7 TT0I76D Strong Genetic Variation [99]
GRM8 TT0IFKL Strong Biomarker [100]
GSTA1 TT4P8DE Strong Genetic Variation [101]
HRH4 TTXJ178 Strong Biomarker [102]
HTR1A TTSQIFT Strong Biomarker [103]
HTR1B TTK8CXU Strong Genetic Variation [104]
HTR2A TTJQOD7 Strong Biomarker [105]
HTR2C TTWJBZ5 Strong Biomarker [104]
HTR7 TTO9X1H Strong Biomarker [106]
ICA1 TTMX06B Strong Biomarker [107]
IDS TTNY2AP Strong Biomarker [108]
IL5 TTPREZD Strong Biomarker [109]
ITGB3 TTJA1ZO Strong Genetic Variation [110]
ITPR3 TTH1769 Strong Biomarker [111]
JMJD1C TTBISK4 Strong Biomarker [112]
KCNJ10 TTG140O Strong Genetic Variation [113]
KCNJ2 TTH7UO3 Strong Genetic Variation [114]
KDM4C TTV8CRH Strong Genetic Variation [115]
KDM5A TTIG67W Strong Genetic Variation [116]
KDM5B TTCLI75 Strong Biomarker [116]
KDM5C TT94UCF Strong Biomarker [116]
KIR2DS1 TTVWAGF Strong Biomarker [117]
KMT5B TTJGV7F Strong Biomarker [118]
LYZ TTAOZBW Strong Biomarker [119]
MAOA TT3WG5C Strong Altered Expression [120]
MAOB TTGP7BY Strong Genetic Variation [121]
MAP2K1 TTIDAPM Strong CausalMutation [122]
MAPK1 TT4TQBX Strong Biomarker [123]
MET TTNDSF4 Strong Biomarker [124]
MKNK1 TTEZAUX Strong Altered Expression [33]
MOG TTQAFX5 Strong Biomarker [125]
MUSK TT6SA0X Strong Genetic Variation [83]
NR1D1 TTAD1O8 Strong Biomarker [126]
NR4A2 TT9HKN3 Strong Biomarker [127]
NRG1 TTEH395 Strong Biomarker [128]
NRP2 TTRXUVC Strong Biomarker [129]
NSD1 TTTSJ3H Strong Genetic Variation [130]
NTSR1 TTTUMEP Strong Biomarker [71]
NUAK1 TT65FL0 Strong Biomarker [131]
OPRK1 TTQW87Y Strong Biomarker [132]
P2RY12 TTZ1DT0 Strong Biomarker [133]
PAH TTGSVH2 Strong Biomarker [38]
PAK2 TT279WO Strong Biomarker [134]
PAM TTF4ZPC Strong Genetic Variation [135]
PDE10A TTJW4LU Strong Biomarker [136]
PDZK1 TTDTBLM Strong Biomarker [137]
PLA2G4C TTBYG4O Strong Genetic Variation [138]
PLCB1 TTLPGU7 Strong Biomarker [139]
POR TTOQ9GZ Strong Biomarker [140]
PRLR TTBPXMA Strong Genetic Variation [141]
PSEN2 TTWN3F4 Strong Biomarker [142]
PTEN TTXJ3W7 Strong Genetic Variation [122]
RAPGEF4 TTOS63B Strong Genetic Variation [143]
RARB TTISP28 Strong Biomarker [38]
RHD TTLCKI8 Strong Genetic Variation [144]
RORA TT1TYN7 Strong Genetic Variation [145]
RPS6KA6 TT3KYWB Strong Genetic Variation [146]
RTN4R TTVRZUO Strong Genetic Variation [147]
SCN1A TTANOZH Strong Genetic Variation [148]
SCN2A TTLJTUF Strong Genetic Variation [149]
SCN8A TT54ERL Strong Genetic Variation [150]
SCN9A TT4G2JS Strong Biomarker [21]
SLC1A2 TT2F078 Strong Genetic Variation [115]
SLC27A4 TT20AYF Strong Biomarker [151]
SLC33A1 TTL69WB Strong Biomarker [152]
SLC38A1 TT1YE9Z Strong Altered Expression [153]
SLC3A2 TT5CZSM Strong Genetic Variation [154]
SLC6A1 TTPRKM0 Strong Genetic Variation [155]
SLC6A3 TTVBI8W Strong Biomarker [156]
SLC7A5 TTPH2JB Strong Genetic Variation [154]
SNCG TT5TQNZ Strong Biomarker [157]
SORT1 TTRX9AV Strong Biomarker [158]
SOX5 TTXHSZK Strong Biomarker [159]
SPN TTOZAX0 Strong Genetic Variation [160]
SYVN1 TT8XKYM Strong Altered Expression [161]
TAOK1 TTQY9DH Strong Biomarker [162]
TBL1X TTAL6S1 Strong Biomarker [163]
THRB TTGER3L Strong Biomarker [164]
TOP1 TTGTQHC Strong Altered Expression [165]
TPH1 TTZSJHV Strong Altered Expression [77]
TPH2 TT3KLDP Strong Biomarker [166]
TRH TT2Z39D Strong Biomarker [167]
TRHR TT4J8MF Strong Biomarker [168]
TRIP12 TTG2CRH Strong Genetic Variation [169]
TRPC5 TT32NQ1 Strong Genetic Variation [170]
UCP3 TT12RJK Strong Genetic Variation [30]
USH2A TTVCLLA Strong Biomarker [38]
USP7 TTXU3EQ Strong Genetic Variation [171]
VDR TTK59TV Strong Genetic Variation [172]
AVP TTJ8EWH Definitive Biomarker [173]
CNTF TTGEM5Q Definitive Biomarker [174]
EPHX2 TT7WVHI Definitive Biomarker [175]
IL17A TTG0MT6 Definitive Biomarker [176]
IL1RAP TTWS50K Definitive Genetic Variation [177]
------------------------------------------------------------------------------------
⏷ Show the Full List of 186 DTT(s)
This Disease Is Related to 17 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC7A3 DTXQR1W Limited Autosomal dominant [15]
SLC6A4 DTAV4SY Disputed Autosomal dominant [32]
SLC9A9 DT8LP62 Disputed Autosomal dominant [32]
ABCA7 DTDVSJA Strong Biomarker [178]
ATP10A DTTQ8WI Strong Biomarker [179]
CACNB2 DTBZWL4 Strong Genetic Variation [180]
SLC12A2 DTHKL3Q Strong Altered Expression [181]
SLC16A2 DTQ8MP1 Strong Biomarker [71]
SLC16A7 DTLT3UG Strong Biomarker [182]
SLC18A1 DTM953D Strong Genetic Variation [183]
SLC25A12 DT85HYR Strong Genetic Variation [30]
SLC26A1 DTJ785O Strong Altered Expression [153]
SLC32A1 DTXQYLR Strong Altered Expression [93]
SLC7A3 DTXQR1W Strong Genetic Variation [184]
SLC7A8 DTJF3DX Strong Genetic Variation [154]
SLC9A9 DT8LP62 Strong Posttranslational Modification [185]
SLC35A3 DTB930Q Definitive Genetic Variation [186]
------------------------------------------------------------------------------------
⏷ Show the Full List of 17 DTP(s)
This Disease Is Related to 15 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
HAGH DE05IKP moderate Genetic Variation [91]
ASMT DEHGR57 Strong Genetic Variation [187]
ASNS DEXISVQ Strong Genetic Variation [188]
CYP27A1 DEBS639 Strong Genetic Variation [189]
CYP2R1 DEBIHM3 Strong Genetic Variation [190]
DHCR7 DEL7GFA Strong Altered Expression [191]
DHRS9 DEGTU5I Strong Altered Expression [192]
DIO3 DET89OV Strong Biomarker [71]
FAAH DEUM1EX Strong Biomarker [193]
FADS1 DE05S8C Strong Genetic Variation [83]
GGCT DEKW6PB Strong Genetic Variation [194]
PER1 DE9HF0I Strong Genetic Variation [195]
PRODH DEVJIHS Strong Biomarker [196]
UPP2 DEBQ2WU Strong Biomarker [197]
CHDH DEAHED0 Definitive Biomarker [198]
------------------------------------------------------------------------------------
⏷ Show the Full List of 15 DME(s)

References

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2 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 2174).
3 ClinicalTrials.gov (NCT03504917) A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension. U.S. National Institutes of Health.
4 ClinicalTrials.gov (NCT00881452) A Trial of CM-AT in Children With Autism. U.S. National Institutes of Health.
5 ClinicalTrials.gov (NCT03829878) Efficacy, Safety, and Tolerability Study of Oral Full-Spectrum MicrobiotaTM (CP101) in Subjects With Autism Spectrum Disorder and Associated GI Symptoms (SPROUT) (SPROUT). U.S. National Institutes of Health.
6 ClinicalTrials.gov (NCT02947048) Safety of L1-79 in Autism. U.S. National Institutes of Health.
7 Long-term treatment with the dipeptidyl peptidase IV inhibitor P32/98 causes sustained improvements in glucose tolerance, insulin sensitivity, hyperinsulinemia, and beta-cell glucose responsiveness in VDF (fa/fa) Zucker rats. Diabetes. 2002 Apr;51(4):943-50.
8 ClinicalTrials.gov (NCT01793441) A Study of RG7314 to Investigate Efficacy and Safety in Individuals With Autism Spectrum Disorders. U.S. National Institutes of Health.
9 ClinicalTrials.gov (NCT01288716) Study of Arbaclofen for the Treatment of Social Withdrawal in Subjects With Autism Spectrum Disorders. U.S. National Institutes of Health.
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11 Microbiome therapeutics go small molecule. Nat Rev Drug Discov. 2019 Jul;18(8):569-572.
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19 Impact of CYP2D6 Polymorphism on Steady-State Plasma Levels of Risperidone and 9-Hydroxyrisperidone in Thai Children and Adolescents with Autism Spectrum Disorder.J Child Adolesc Psychopharmacol. 2017 Mar;27(2):185-191. doi: 10.1089/cap.2014.0171. Epub 2016 Jan 18.
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23 A genome-wide enhancer/suppressor screen for Dube3a interacting genes in Drosophila melanogaster.Sci Rep. 2019 Feb 20;9(1):2382. doi: 10.1038/s41598-019-38663-y.
24 HLA-G allelic distribution in Sardinian children with Autism spectrum disorders: A replication study.Brain Behav Immun. 2019 Jul;79:314-318. doi: 10.1016/j.bbi.2019.02.003. Epub 2019 Feb 11.
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26 Elevated protein concentrations in newborn blood and the risks of autism spectrum disorder, and of social impairment, at age 10 years among infants born before the 28th week of gestation.Transl Psychiatry. 2018 Jun 8;8(1):115. doi: 10.1038/s41398-018-0156-0.
27 Neurodevelopmental outcomes in individuals with fetal alcohol spectrum disorder (FASD) with and without exposure to neglect: Clinical cohort data from a national FASD diagnostic clinic.Alcohol. 2019 May;76:23-28. doi: 10.1016/j.alcohol.2018.06.002. Epub 2018 Jun 12.
28 Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.Seizure. 2018 Aug;60:91-93. doi: 10.1016/j.seizure.2018.06.012. Epub 2018 Jun 13.
29 Enhanced Social Dominance and Altered Neuronal Excitability in the Prefrontal Cortex of Male KCC2b Mutant Mice.Autism Res. 2019 May;12(5):732-743. doi: 10.1002/aur.2098. Epub 2019 Apr 12.
30 Single Nucleotide Polymorphisms in SLC19A1 and SLC25A9 Are Associated with Childhood Autism Spectrum Disorder in the Chinese Han Population.J Mol Neurosci. 2017 Jun;62(2):262-267. doi: 10.1007/s12031-017-0929-6. Epub 2017 May 24.
31 A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.Am J Med Genet A. 2017 Aug;173(8):2132-2138. doi: 10.1002/ajmg.a.38285. Epub 2017 Jun 2.
32 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
33 Disruption of mTOR and MAPK pathways correlates with severity in idiopathic autism.Transl Psychiatry. 2019 Jan 31;9(1):50. doi: 10.1038/s41398-018-0335-z.
34 ERP evidence of semantic processing in children with ASD.Dev Cogn Neurosci. 2019 Apr;36:100640. doi: 10.1016/j.dcn.2019.100640. Epub 2019 Mar 23.
35 Brain mGluR5 in Shank3B(-/-) Mice Studied With in vivo [(18)F]FPEB PET Imaging and ex vivo Immunoblotting.Front Psychiatry. 2019 Feb 12;10:38. doi: 10.3389/fpsyt.2019.00038. eCollection 2019.
36 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.Am J Hum Genet. 2013 Aug 8;93(2):249-63. doi: 10.1016/j.ajhg.2013.06.012. Epub 2013 Jul 11.
37 ASD restricted and repetitive behaviors associated at 17q21.33: genes prioritized by expression in fetal brains.Mol Psychiatry. 2018 Apr;23(4):993-1000. doi: 10.1038/mp.2017.114. Epub 2017 May 23.
38 Recessive gene disruptions in autism spectrum disorder.Nat Genet. 2019 Jul;51(7):1092-1098. doi: 10.1038/s41588-019-0433-8. Epub 2019 Jun 17.
39 Synaptosome-Associated Protein 25 (SNAP25) Gene Association Analysis Revealed Risk Variants for ASD, in Iranian Population.J Mol Neurosci. 2017 Mar;61(3):305-311. doi: 10.1007/s12031-016-0860-2. Epub 2016 Nov 26.
40 Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.Clin Chim Acta. 2018 Apr;479:144-147. doi: 10.1016/j.cca.2018.01.025. Epub 2018 Feb 2.
41 Short communication: Sex-linked differences in gamma-aminobutyric acid (GABA) are related to social functioning in autism spectrum disorder.Psychiatry Res Neuroimaging. 2018 Apr 30;274:19-22. doi: 10.1016/j.pscychresns.2018.02.004. Epub 2018 Feb 21.
42 PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder.Autism Res. 2019 Feb;12(2):200-211. doi: 10.1002/aur.2051. Epub 2018 Dec 17.
43 Association of Autism Spectrum Disorder With Prenatal Exposure to Medication Affecting Neurotransmitter Systems.JAMA Psychiatry. 2018 Dec 1;75(12):1217-1224. doi: 10.1001/jamapsychiatry.2018.2728.
44 No increase in autism-associated genetic events in children conceived by assisted reproduction.Fertil Steril. 2014 Aug;102(2):388-93. doi: 10.1016/j.fertnstert.2014.04.020. Epub 2014 May 17.
45 Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism.J Hum Genet. 2020 Mar;65(3):287-296. doi: 10.1038/s10038-019-0707-0. Epub 2019 Dec 12.
46 An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.Nat Commun. 2017 Sep 19;8(1):601. doi: 10.1038/s41467-017-00472-0.
47 A phase 2 clinical trial of a vasopressin V1a receptor antagonist shows improved adaptive behaviors in men with autism spectrum disorder.Sci Transl Med. 2019 May 8;11(491):eaat7838. doi: 10.1126/scitranslmed.aat7838. Epub 2019 May 1.
48 Expression Analysis of BDNF, BACE1, and Their Natural Occurring Antisenses in Autistic Patients.J Mol Neurosci. 2020 Feb;70(2):194-200. doi: 10.1007/s12031-019-01432-7. Epub 2019 Nov 23.
49 Comprehension of Generalized Conversational Implicatures by Children With and Without Autism Spectrum Disorder.Front Psychol. 2018 Mar 13;9:272. doi: 10.3389/fpsyg.2018.00272. eCollection 2018.
50 Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder.Taiwan J Obstet Gynecol. 2017 Feb;56(1):98-101. doi: 10.1016/j.tjog.2016.12.003.
51 -catenin promoter ChIP-chip reveals potential schizophrenia and bipolar disorder gene network.J Neurogenet. 2010 Dec;24(4):182-93. doi: 10.3109/01677063.2010.495182. Epub 2010 Jul 8.
52 A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.Heart Rhythm. 2019 Feb;16(2):270-278. doi: 10.1016/j.hrthm.2018.08.030. Epub 2018 Aug 29.
53 Gating defects of disease-causing de novo mutations in Ca(v)1.3 Ca(2+) channels.Channels (Austin). 2018;12(1):388-402. doi: 10.1080/19336950.2018.1546518.
54 High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.Mol Psychiatry. 2010 Oct;15(10):996-1005. doi: 10.1038/mp.2009.41. Epub 2009 May 19.
55 G protein-mediated inhibition of Cav3.2 T-type channels revisited.Mol Pharmacol. 2010 Feb;77(2):136-8. doi: 10.1124/mol.109.062133. Epub 2009 Nov 10.
56 Novel biomarkers of metabolic dysfunction is autism spectrum disorder: potential for biological diagnostic markers.Metab Brain Dis. 2017 Dec;32(6):1983-1997. doi: 10.1007/s11011-017-0085-2. Epub 2017 Aug 22.
57 De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes. Eur J Hum Genet. 2019 Jul;27(7):1121-1133. doi: 10.1038/s41431-019-0376-7. Epub 2019 Mar 18.
58 Effectiveness of Training Therapists to Deliver An Individualized Mental Health Intervention for Children With ASD in Publicly Funded Mental Health Services: A Cluster Randomized Clinical Trial.JAMA Psychiatry. 2019 Jun 1;76(6):574-583. doi: 10.1001/jamapsychiatry.2019.0011.
59 Segregated expressions of autism risk genes Cdh11 and Cdh9 in autism-relevant regions of developing cerebellum.Mol Brain. 2019 May 2;12(1):40. doi: 10.1186/s13041-019-0461-4.
60 Oxytocin Receptors Are Expressed by Glutamatergic Prefrontal Cortical Neurons That Selectively Modulate Social Recognition.J Neurosci. 2019 Apr 24;39(17):3249-3263. doi: 10.1523/JNEUROSCI.2944-18.2019. Epub 2019 Feb 25.
61 Brief Report: Evaluation of the Short Quantitative Checklist for Autism in Toddlers (Q-CHAT-10) as a Brief Screen for Autism Spectrum Disorder in a High-Risk Sibling Cohort.J Autism Dev Disord. 2019 May;49(5):2210-2218. doi: 10.1007/s10803-019-03897-2.
62 Nicotinic acetylcholine receptor subunit (7)-knockout mice exhibit degraded auditory temporal processing.J Neurophysiol. 2019 Aug 1;122(2):451-465. doi: 10.1152/jn.00170.2019. Epub 2019 May 22.
63 Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons.Hum Mol Genet. 2018 Jun 1;27(11):1941-1954. doi: 10.1093/hmg/ddy102.
64 The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.Behav Brain Res. 2020 Jan 27;378:112272. doi: 10.1016/j.bbr.2019.112272. Epub 2019 Oct 3.
65 Incidence of Clostridium perfringens and its toxin genes in the gut of children with autism spectrum disorder.Anaerobe. 2020 Feb;61:102114. doi: 10.1016/j.anaerobe.2019.102114. Epub 2019 Nov 5.
66 Mutation of the CH1 Domain in the Histone Acetyltransferase CREBBP Results in Autism-Relevant Behaviors in Mice.PLoS One. 2016 Jan 5;11(1):e0146366. doi: 10.1371/journal.pone.0146366. eCollection 2016.
67 The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder.J Clin Med. 2017 Feb 13;6(2):18. doi: 10.3390/jcm6020018.
68 Urine Organic Acids as Potential Biomarkers for Autism-Spectrum Disorder in Chinese Children.Front Cell Neurosci. 2019 Apr 30;13:150. doi: 10.3389/fncel.2019.00150. eCollection 2019.
69 CUL3 Deficiency Causes Social Deficits and Anxiety-like Behaviors by Impairing Excitation-Inhibition Balance through the Promotion of Cap-Dependent Translation.Neuron. 2020 Feb 5;105(3):475-490.e6. doi: 10.1016/j.neuron.2019.10.035. Epub 2019 Nov 25.
70 A Family-Based Association Study of CYP11A1 and CYP11B1 Gene Polymorphisms With Autism in Chinese Trios.J Child Neurol. 2016 May;31(6):733-7. doi: 10.1177/0883073815620672. Epub 2015 Dec 21.
71 Disrupted brain thyroid hormone homeostasis and altered thyroid hormone-dependent brain gene expression in autism spectrum disorders.J Physiol Pharmacol. 2014 Apr;65(2):257-72.
72 Proteomic Investigations of Autism Brain Identify Known and Novel Pathogenetic Processes.Sci Rep. 2019 Sep 11;9(1):13118. doi: 10.1038/s41598-019-49533-y.
73 Genetic association of DNMT variants can play a critical role in defining the methylation patterns in autism.IUBMB Life. 2019 Jul;71(7):901-907. doi: 10.1002/iub.2021. Epub 2019 Feb 20.
74 Elevated 5-hydroxymethylcytosine in the Engrailed-2 (EN-2) promoter is associated with increased gene expression and decreased MeCP2 binding in autism cerebellum.Transl Psychiatry. 2014 Oct 7;4(10):e460. doi: 10.1038/tp.2014.87.
75 Structural variation of chromosomes in autism spectrum disorder.Am J Hum Genet. 2008 Feb;82(2):477-88. doi: 10.1016/j.ajhg.2007.12.009. Epub 2008 Jan 17.
76 DRD3 gene and striatum in autism spectrum disorder.Br J Psychiatry. 2015 May;206(5):431-2. doi: 10.1192/bjp.bp.114.148973. Epub 2015 Mar 19.
77 Altered mRNA expression of monoaminergic candidate genes in the blood of children with attention deficit hyperactivity disorder and autism spectrum disorder.World J Biol Psychiatry. 2011 Sep;12 Suppl 1:104-8. doi: 10.3109/15622975.2011.600297.
78 Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development.Mol Psychiatry. 2018 Mar;23(3):747-758. doi: 10.1038/mp.2016.253. Epub 2017 Feb 7.
79 Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. PLoS Genet. 2017 Oct 25;13(10):e1006864. doi: 10.1371/journal.pgen.1006864. eCollection 2017 Oct.
80 Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.Psychiatr Genet. 2019 Jun;29(3):86-90. doi: 10.1097/YPG.0000000000000217.
81 Peptidome Analysis Reveals Novel Serum Biomarkers for Children with Autism Spectrum Disorder in China.Proteomics Clin Appl. 2018 Sep;12(5):e1700164. doi: 10.1002/prca.201700164. Epub 2018 May 30.
82 Functional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies.Hum Mol Genet. 2014 Dec 15;23(24):6495-511. doi: 10.1093/hmg/ddu369. Epub 2014 Jul 15.
83 FADS1-FADS2 and ELOVL2 gene polymorphisms in susceptibility to autism spectrum disorders in Chinese children.BMC Psychiatry. 2018 Sep 4;18(1):283. doi: 10.1186/s12888-018-1868-7.
84 Thyroid dysfunction in children with autism spectrum disorder is associated with folate receptor autoimmune disorder.J Neuroendocrinol. 2017 Mar;29(3). doi: 10.1111/jne.12461.
85 Regulatory genes and pathways disrupted in autism spectrum disorders.Prog Neuropsychopharmacol Biol Psychiatry. 2019 Mar 8;89:57-64. doi: 10.1016/j.pnpbp.2018.08.017. Epub 2018 Aug 28.
86 The Knockout of Synapsin II in Mice Impairs Social Behavior and Functional Connectivity Generating an ASD-like Phenotype.Cereb Cortex. 2017 Oct 1;27(10):5014-5023. doi: 10.1093/cercor/bhx207.
87 5GABAA receptor deficiency causes autism-like behaviors.Ann Clin Transl Neurol. 2016 Apr 19;3(5):392-8. doi: 10.1002/acn3.303. eCollection 2016 May.
88 Epigenetic regulation of RELN and GAD1 in the frontal cortex (FC) of autism spectrum disorder (ASD) subjects.Int J Dev Neurosci. 2017 Nov;62:63-72. doi: 10.1016/j.ijdevneu.2017.02.003. Epub 2017 Feb 14.
89 Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.Autism Res. 2012 Aug;5(4):277-81. doi: 10.1002/aur.1240. Epub 2012 Jun 11.
90 Alterations in neuronal cytoskeletal and astrocytic proteins content in the brain of the autistic-like mouse strain C58/J.Neurosci Lett. 2018 Aug 24;682:32-38. doi: 10.1016/j.neulet.2018.06.004. Epub 2018 Jun 6.
91 Weak association of glyoxalase 1 (GLO1) variants with autism spectrum disorder. Eur Child Adolesc Psychiatry. 2015 Jan;24(1):75-82.
92 Integrated Transcriptome Analyses Revealed Key Target Genes in Mouse Models of Autism.Autism Res. 2020 Mar;13(3):352-368. doi: 10.1002/aur.2240. Epub 2019 Nov 19.
93 Prenatal Nutritional Intervention Reduces Autistic-Like Behavior Rates Among Mthfr-Deficient Mice.Front Neurosci. 2019 May 2;13:383. doi: 10.3389/fnins.2019.00383. eCollection 2019.
94 Polymorphisms of Ionotropic Glutamate Receptor-Related Genes and the Risk of Autism Spectrum Disorder in a Chinese Population.Psychiatry Investig. 2019 May;16(5):379-385. doi: 10.30773/pi.2019.02.26.3. Epub 2019 May 23.
95 Increased Dosage of High-Affinity Kainate Receptor Gene grik4 Alters Synaptic Transmission and Reproduces Autism Spectrum Disorders Features.J Neurosci. 2015 Oct 7;35(40):13619-28. doi: 10.1523/JNEUROSCI.2217-15.2015.
96 Metabotropic functions of the NMDA receptor and an evolving rationale for exploring NR2A-selective positive allosteric modulators for the treatment of autism spectrum disorder.Prog Neuropsychopharmacol Biol Psychiatry. 2019 Mar 2;90:142-160. doi: 10.1016/j.pnpbp.2018.11.017. Epub 2018 Nov 24.
97 An autism-associated mutation in GluN2B prevents NMDA receptor trafficking and interferes with dendrite growth.J Cell Sci. 2019 Oct 18;132(20):jcs232892. doi: 10.1242/jcs.232892.
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99 An induced pluripotent stem cells line (SDQLCHi014-A) derived from urine cells of a patient with ASD and hyperactivity carrying a 303kb de novo deletion at chr3p26.1 implicating GRM7 gene.Stem Cell Res. 2019 Dec;41:101635. doi: 10.1016/j.scr.2019.101635. Epub 2019 Nov 2.
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102 Altered expression of histamine signaling genes in autism spectrum disorder.Transl Psychiatry. 2017 May 9;7(5):e1126. doi: 10.1038/tp.2017.87.
103 The roles of CC2D1A and HTR1A gene expressions in autism spectrum disorders.Metab Brain Dis. 2016 Jun;31(3):613-9. doi: 10.1007/s11011-016-9795-0. Epub 2016 Jan 19.
104 HTR1B and HTR2C in autism spectrum disorders in Brazilian families.Brain Res. 2009 Jan 23;1250:14-9. doi: 10.1016/j.brainres.2008.11.007. Epub 2008 Nov 12.
105 DNA Methylation Analysis of HTR2A Regulatory Region in Leukocytes of Autistic Subjects.Autism Res. 2016 Feb;9(2):204-9. doi: 10.1002/aur.1519. Epub 2015 Jul 7.
106 Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder.Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1049-1056. doi: 10.1002/ajmg.b.32473. Epub 2016 Jul 6.
107 Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.PLoS One. 2011;6(10):e26049. doi: 10.1371/journal.pone.0026049. Epub 2011 Oct 7.
108 Atypical preference for infant-directed speech as an early marker of autism spectrum disorders? A literature review and directions for further research.Clin Linguist Phon. 2018;32(3):213-231. doi: 10.1080/02699206.2017.1342694. Epub 2017 Jul 20.
109 Anti-inflammatory cytokines in autism spectrum disorders: A systematic review and meta-analysis.Cytokine. 2019 Nov;123:154740. doi: 10.1016/j.cyto.2019.154740. Epub 2019 Jun 19.
110 Evidence that ITGB3 promoter variants increase serotonin blood levels by regulating platelet serotonin transporter trafficking.Hum Mol Genet. 2019 Apr 1;28(7):1153-1161. doi: 10.1093/hmg/ddy421.
111 Shared functional defect in IPR-mediated calcium signaling in diverse monogenic autism syndromes.Transl Psychiatry. 2015 Sep 22;5(9):e643. doi: 10.1038/tp.2015.123.
112 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.
113 Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study.Sleep. 2020 Apr 15;43(4):zsz255. doi: 10.1093/sleep/zsz255.
114 Association study between inwardly rectifying potassium channels 2.1 and 4.1 and autism spectrum disorders.Life Sci. 2018 Nov 15;213:183-189. doi: 10.1016/j.lfs.2018.10.012. Epub 2018 Oct 7.
115 Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample.Psychiatr Genet. 2010 Jun;20(3):102-8. doi: 10.1097/YPG.0b013e32833a2080.
116 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.
117 HLA-G?4bp Insertion and the KIR2DS1-HLAC2 Complex Impact on Behavioral Impairment in Children with Autism Spectrum Disorders.Neuroscience. 2018 Feb 1;370:163-169. doi: 10.1016/j.neuroscience.2017.06.012. Epub 2017 Jun 13.
118 Incorporating Functional Information in Tests of Excess De Novo Mutational Load. Am J Hum Genet. 2015 Aug 6;97(2):272-83. doi: 10.1016/j.ajhg.2015.06.013. Epub 2015 Jul 30.
119 A cellular automaton model to find the risk of developing autism through gut-mediated effects.Comput Biol Med. 2019 Jul;110:207-217. doi: 10.1016/j.compbiomed.2019.05.015. Epub 2019 May 25.
120 From aggression to autism: new perspectives on the behavioral sequelae of monoamine oxidase deficiency.J Neural Transm (Vienna). 2018 Nov;125(11):1589-1599. doi: 10.1007/s00702-018-1888-y. Epub 2018 May 10.
121 No Association between the rs1799836 Polymorphism of the Monoamine Oxidase B Gene and the Risk of Autism Spectrum Disorders in the Kazakhstani Population.Dis Markers. 2019 Jun 2;2019:2846394. doi: 10.1155/2019/2846394. eCollection 2019.
122 Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. Hum Mutat. 2019 Jun;40(6):801-815. doi: 10.1002/humu.23724. Epub 2019 Apr 29.
123 ERK/MAPK signaling and autism spectrum disorders.Prog Brain Res. 2018;241:63-112. doi: 10.1016/bs.pbr.2018.09.008. Epub 2018 Nov 1.
124 Altered Forebrain Functional Connectivity and Neurotransmission in a Kinase-Inactive Met Mouse Model of Autism.Mol Imaging. 2019 Jan-Dec;18:1536012118821034. doi: 10.1177/1536012118821034.
125 Elevated GFAP Protein in Anterior Cingulate Cortical White Matter in Males With Autism Spectrum Disorder.Autism Res. 2015 Dec;8(6):649-57. doi: 10.1002/aur.1480. Epub 2015 Apr 6.
126 Role of a circadian-relevant gene NR1D1 in brain development: possible involvement in the pathophysiology of autism spectrum disorders.Sci Rep. 2017 Mar 6;7:43945. doi: 10.1038/srep43945.
127 NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.Clin Genet. 2018 Aug;94(2):264-268. doi: 10.1111/cge.13383.
128 Levels of peripheral Neuregulin 1 are increased in non-medicated autism spectrum disorder patients.J Clin Neurosci. 2018 Nov;57:43-45. doi: 10.1016/j.jocn.2018.08.043. Epub 2018 Aug 24.
129 Deletion of Semaphorin 3F in Interneurons Is Associated with Decreased GABAergic Neurons, Autism-like Behavior, and Increased Oxidative Stress Cascades.Mol Neurobiol. 2019 Aug;56(8):5520-5538. doi: 10.1007/s12035-018-1450-9. Epub 2019 Jan 11.
130 Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.BMC Med Genet. 2007 Nov 14;8:68. doi: 10.1186/1471-2350-8-68.
131 Haploinsufficiency of autism spectrum disorder candidate gene NUAK1 impairs cortical development and behavior in mice.Nat Commun. 2018 Oct 16;9(1):4289. doi: 10.1038/s41467-018-06584-5.
132 Does MeCP2 deficiency in autism confer protection against later development of Alzheimer's disease? A reply to Oberman and Pascual-Leone (2014).Med Hypotheses. 2016 Jul;92:18-20. doi: 10.1016/j.mehy.2016.04.020. Epub 2016 Apr 13.
133 Segmented Iba1-Positive Processes of Microglia in Autism Model Marmosets.Front Cell Neurosci. 2019 Jul 30;13:344. doi: 10.3389/fncel.2019.00344. eCollection 2019.
134 PAK2 Haploinsufficiency Results in Synaptic Cytoskeleton Impairment and Autism-Related Behavior.Cell Rep. 2018 Aug 21;24(8):2029-2041. doi: 10.1016/j.celrep.2018.07.061.
135 mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex.Neuropsychopharmacology. 2018 May;43(6):1457-1465. doi: 10.1038/npp.2017.295. Epub 2017 Dec 5.
136 Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders.Transl Psychiatry. 2016 Jul 12;6(7):e855. doi: 10.1038/tp.2016.120.
137 Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.Genes Brain Behav. 2014 Feb;13(2):144-51. doi: 10.1111/gbb.12096. Epub 2013 Nov 7.
138 The rs251684 Variant of PLA2G4C Is Associated with Autism Spectrum Disorder in the Northeast Han Chinese Population.Genet Test Mol Biomarkers. 2016 Dec;20(12):747-752. doi: 10.1089/gtmb.2016.0195. Epub 2016 Sep 9.
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142 Association between the methylation of six apoptosisassociated genes with autism spectrum disorder.Mol Med Rep. 2018 Nov;18(5):4629-4634. doi: 10.3892/mmr.2018.9473. Epub 2018 Sep 10.
143 Loss of EPAC2 alters dendritic spine morphology and inhibitory synapse density.Mol Cell Neurosci. 2019 Jul;98:19-31. doi: 10.1016/j.mcn.2019.05.001. Epub 2019 May 4.
144 The genetic basis of hair whorl, handedness, and other phenotypes.Med Hypotheses. 2006;66(4):708-14. doi: 10.1016/j.mehy.2005.10.010. Epub 2005 Dec 5.
145 Retinoic acid-related orphan receptor alpha (RORA) variants are associated with autism spectrum disorder.Metab Brain Dis. 2017 Oct;32(5):1595-1601. doi: 10.1007/s11011-017-0049-6. Epub 2017 Jun 12.
146 Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).Autism Res. 2011 Jun;4(3):228-33. doi: 10.1002/aur.187. Epub 2011 Feb 22.
147 A novel rare variant R292H in RTN4R affects growth cone formation and possibly contributes to schizophrenia susceptibility.Transl Psychiatry. 2017 Aug 22;7(8):e1214. doi: 10.1038/tp.2017.170.
148 Association of rare missense variants in the second intracellular loop of Na(V)1.7 sodium channels with familial autism.Mol Psychiatry. 2018 Feb;23(2):231-239. doi: 10.1038/mp.2016.222. Epub 2016 Dec 13.
149 Clinical and genetic spectrum of SCN2A-associated episodic ataxia.Eur J Paediatr Neurol. 2019 May;23(3):438-447. doi: 10.1016/j.ejpn.2019.03.001. Epub 2019 Mar 7.
150 De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.Epilepsy Res. 2017 Jan;129:17-25. doi: 10.1016/j.eplepsyres.2016.11.002. Epub 2016 Nov 6.
151 Investigation of the fatty acid transporter-encoding genes SLC27A3 and SLC27A4 in autism.Sci Rep. 2015 Nov 9;5:16239. doi: 10.1038/srep16239.
152 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.
153 Low-dose suramin in autism spectrum disorder: a small, phase I/II, randomized clinical trial.Ann Clin Transl Neurol. 2017 May 26;4(7):491-505. doi: 10.1002/acn3.424. eCollection 2017 Jul.
154 Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.Mol Genet Genomic Med. 2020 Jan;8(1):e1036. doi: 10.1002/mgg3.1036. Epub 2019 Nov 7.
155 Language Regression in an Atypical SLC6A1 Mutation.Semin Pediatr Neurol. 2018 Jul;26:25-27. doi: 10.1016/j.spen.2018.04.001.
156 The SUMO-Conjugase Ubc9 Prevents the Degradation of the Dopamine Transporter, Enhancing Its Cell Surface Level and Dopamine Uptake.Front Cell Neurosci. 2019 Feb 8;13:35. doi: 10.3389/fncel.2019.00035. eCollection 2019.
157 Significant Changes in Plasma Alpha-Synuclein and Beta-Synuclein Levels in Male Children with Autism Spectrum Disorder.Biomed Res Int. 2018 Apr 8;2018:4503871. doi: 10.1155/2018/4503871. eCollection 2018.
158 Functional analysis of gut microbiota and immunoinflammation in children with autism spectrum disorders.Dig Liver Dis. 2019 Oct;51(10):1366-1374. doi: 10.1016/j.dld.2019.06.006. Epub 2019 Jul 16.
159 Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.Genet Med. 2010 Nov;12(11):694-702. doi: 10.1097/GIM.0b013e3181f0c5f3.
160 Abnormal Development of the Earliest Cortical Circuits in a Mouse Model of Autism Spectrum Disorder.Cell Rep. 2017 Jan 31;18(5):1100-1108. doi: 10.1016/j.celrep.2017.01.006.
161 Implication of Endoplasmic Reticulum Stress in Autism Spectrum Disorder.Neurochem Res. 2018 Jan;43(1):147-152. doi: 10.1007/s11064-017-2370-1. Epub 2017 Aug 2.
162 Active zone proteins are transported via distinct mechanisms regulated by Par-1 kinase.PLoS Genet. 2017 Feb 21;13(2):e1006621. doi: 10.1371/journal.pgen.1006621. eCollection 2017 Feb.
163 An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.Mol Autism. 2011 Nov 4;2(1):18. doi: 10.1186/2040-2392-2-18.
164 Analysis and functional characterization of sequence variations in ligand binding domain of thyroid hormone receptors in autism spectrum disorder (ASD) patients.Autism Res. 2017 Dec;10(12):1919-1928. doi: 10.1002/aur.1838. Epub 2017 Aug 30.
165 Topoisomerases facilitate transcription of long genes linked to autism.Nature. 2013 Sep 5;501(7465):58-62. doi: 10.1038/nature12504. Epub 2013 Aug 28.
166 Social approach, anxiety, and altered tryptophan hydroxylase 2 activity in juvenile BALB/c and C57BL/6J mice.Behav Brain Res. 2019 Feb 1;359:918-926. doi: 10.1016/j.bbr.2018.06.019. Epub 2018 Jun 20.
167 Receiver operating characteristic curve analysis of the Child Behavior Checklist and Teacher's Report Form for assessing autism spectrum disorder in preschool-aged children.Neuropsychiatr Dis Treat. 2017 Dec 28;14:95-102. doi: 10.2147/NDT.S151185. eCollection 2018.
168 Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population.Sci Rep. 2017 Mar 30;7:45336. doi: 10.1038/srep45336.
169 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.
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171 Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.Genet Med. 2019 Aug;21(8):1797-1807. doi: 10.1038/s41436-019-0433-1. Epub 2019 Jan 25.
172 Association between vitamin D receptor gene FokI and TaqI variants with autism spectrum disorder predisposition in Iranian population.Gene. 2020 Jan 10;723:144133. doi: 10.1016/j.gene.2019.144133. Epub 2019 Oct 4.
173 Systematic Review of Literature on Single-Nucleotide Polymorphisms Within the Oxytocin and Vasopressin Receptor Genes in the Development of Social Cognition Dysfunctions in Individuals Suffering From Autism Spectrum Disorder.Front Psychiatry. 2019 May 31;10:380. doi: 10.3389/fpsyt.2019.00380. eCollection 2019.
174 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.
175 Key role of soluble epoxide hydrolase in the neurodevelopmental disorders of offspring after maternal immune activation.Proc Natl Acad Sci U S A. 2019 Apr 2;116(14):7083-7088. doi: 10.1073/pnas.1819234116. Epub 2019 Mar 19.
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178 Self-compassion: A Novel Predictor of Stress and Quality of Life in Parents of Children with Autism Spectrum Disorder.J Autism Dev Disord. 2019 Oct;49(10):4039-4052. doi: 10.1007/s10803-019-04121-x.
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180 Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function.PLoS One. 2014 Apr 21;9(4):e95579. doi: 10.1371/journal.pone.0095579. eCollection 2014.
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188 Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.Mol Genet Metab. 2018 Mar;123(3):317-325. doi: 10.1016/j.ymgme.2017.12.433. Epub 2017 Dec 20.
189 Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.J Inherit Metab Dis. 2018 Jul;41(4):641-646. doi: 10.1007/s10545-017-0086-7. Epub 2017 Sep 11.
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212 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.
213 Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.J Neurodev Disord. 2019 Feb 7;11(1):3. doi: 10.1186/s11689-019-9263-3.
214 Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance.Gene. 2016 Dec 31;595(2):131-141. doi: 10.1016/j.gene.2016.09.027. Epub 2016 Sep 17.
215 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.
216 ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario.J Cell Mol Med. 2020 Jan;24(2):2064-2069. doi: 10.1111/jcmm.14733. Epub 2019 Dec 4.
217 Oxytocin levels and sex differences in autism spectrum disorder with severe intellectual disabilities.Psychiatry Res. 2019 Mar;273:67-74. doi: 10.1016/j.psychres.2018.12.139. Epub 2018 Dec 27.
218 Possible involvement of a cell adhesion molecule, Migfilin, in brain development and pathogenesis of autism spectrum disorders.J Neurosci Res. 2018 May;96(5):789-802. doi: 10.1002/jnr.24194. Epub 2017 Nov 8.
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220 2-glycine receptors modulate adult hippocampal neurogenesis and spatial memory.Dev Neurobiol. 2017 Dec;77(12):1430-1441. doi: 10.1002/dneu.22549. Epub 2017 Oct 26.
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224 Adults with Autism Tend to Underestimate the Hidden Environmental Structure: Evidence from a Visual Associative Learning Task.J Autism Dev Disord. 2018 Sep;48(9):3061-3074. doi: 10.1007/s10803-018-3574-1.
225 CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk Gene KCTD13 Causes Developmental Deficits in Human Cortical Neurons Derived from Induced Pluripotent Stem Cells.Mol Neurobiol. 2020 Feb;57(2):616-634. doi: 10.1007/s12035-019-01727-1. Epub 2019 Aug 11.
226 Persistence of dysfunctional natural killer cells in adults with high-functioning autism spectrum disorders: stigma/consequence of unresolved early infectious events?.Mol Autism. 2019 May 15;10:22. doi: 10.1186/s13229-019-0269-1. eCollection 2019.
227 Synaptic localisation of SRF coactivators, MKL1 and MKL2, and their role in dendritic spine morphology.Sci Rep. 2018 Jan 15;8(1):727. doi: 10.1038/s41598-017-18905-7.
228 Lens-specific conditional knockout of Msx2 in mice leads to ocular anterior segment dysgenesis via activation of a calcium signaling pathway.Lab Invest. 2019 Nov;99(11):1714-1727. doi: 10.1038/s41374-018-0180-y. Epub 2019 Jan 25.
229 Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.J Hum Genet. 2018 Jul;63(7):847-850. doi: 10.1038/s10038-018-0459-2. Epub 2018 May 1.
230 A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.Am J Med Genet B Neuropsychiatr Genet. 2018 Sep;177(6):589-595. doi: 10.1002/ajmg.b.32673. Epub 2018 Aug 4.
231 Fragile X Mental Retardation Protein positively regulates PKA anchor Rugose and PKA activity to control actin assembly in learning/memory circuitry.Neurobiol Dis. 2019 Jul;127:53-64. doi: 10.1016/j.nbd.2019.02.004. Epub 2019 Feb 13.
232 Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.Orphanet J Rare Dis. 2014 Feb 20;9:26. doi: 10.1186/1750-1172-9-26.
233 Placenta Specific 8 Suppresses IL-18 Production through Regulation of Autophagy and Is Associated with Adult Still Disease.J Immunol. 2018 Dec 15;201(12):3534-3545. doi: 10.4049/jimmunol.1800667. Epub 2018 Nov 7.
234 A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.J Neurogenet. 2018 Dec;32(4):313-315. doi: 10.1080/01677063.2018.1473862. Epub 2018 May 23.
235 Vangl2 interaction plays a role in the proteasomal degradation of Prickle2.Sci Rep. 2019 Feb 27;9(1):2912. doi: 10.1038/s41598-019-39642-z.
236 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.
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238 Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome.Mol Autism. 2018 Jan 8;9:1. doi: 10.1186/s13229-017-0184-2. eCollection 2018.
239 RBFOX1, encoding a splicing regulator, is a candidate gene for aggressive behavior.Eur Neuropsychopharmacol. 2020 Jan;30:44-55. doi: 10.1016/j.euroneuro.2017.11.012. Epub 2017 Nov 23.
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242 Putative contributions of the sex chromosome proteins SOX3 and SRY to neurodevelopmental disorders.Am J Med Genet B Neuropsychiatr Genet. 2019 Sep;180(6):390-414. doi: 10.1002/ajmg.b.32704. Epub 2018 Dec 9.
243 A part of patients with autism spectrum disorder has haploidy of HPC-1/syntaxin1A gene that possibly causes behavioral disturbance as in experimentally gene ablated mice.Neurosci Lett. 2017 Mar 22;644:5-9. doi: 10.1016/j.neulet.2017.02.052. Epub 2017 Feb 22.
244 Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.Hum Mol Genet. 2019 Jul 1;28(13):2271-2281. doi: 10.1093/hmg/ddz051.
245 Haploinsufficiency of autism causative gene Tbr1 impairs olfactory discrimination and neuronal activation of the olfactory system in mice.Mol Autism. 2019 Feb 11;10:5. doi: 10.1186/s13229-019-0257-5. eCollection 2019.
246 The Tousled-like kinases regulate genome and epigenome stability: implications in development and disease.Cell Mol Life Sci. 2019 Oct;76(19):3827-3841. doi: 10.1007/s00018-019-03208-z. Epub 2019 Jul 13.
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248 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.
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250 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.
251 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.
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253 Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.Transl Psychiatry. 2019 Jan 15;9(1):4. doi: 10.1038/s41398-018-0343-z.
254 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.
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257 The chromatin-binding protein HMGN1 regulates the expression of methyl CpG-binding protein 2 (MECP2) and affects the behavior of mice.J Biol Chem. 2011 Dec 9;286(49):42051-42062. doi: 10.1074/jbc.M111.300541. Epub 2011 Oct 17.
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264 Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge.Pediatr Res. 2016 Sep;80(3):371-81. doi: 10.1038/pr.2016.101. Epub 2016 Apr 27.
265 Essential role of the nuclear isoform of RBFOX1, a candidate gene for autism spectrum disorders, in the brain development.Sci Rep. 2016 Aug 2;6:30805. doi: 10.1038/srep30805.
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273 Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum Disorders.PLoS One. 2015 Sep 9;10(9):e0135927. doi: 10.1371/journal.pone.0135927. eCollection 2015.
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276 ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity.Proc Natl Acad Sci U S A. 2019 Jul 23;116(30):15262-15271. doi: 10.1073/pnas.1904348116. Epub 2019 Jul 8.
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279 A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function.Sci Rep. 2019 Apr 15;9(1):6024. doi: 10.1038/s41598-019-42635-7.
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291 Parkinson disease related ATP13A2 evolved early in animal evolution.PLoS One. 2018 Mar 5;13(3):e0193228. doi: 10.1371/journal.pone.0193228. eCollection 2018.
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293 Oxidative Stress in Autistic Children Alters Erythrocyte Shape in the Absence of Quantitative Protein Alterations and of Loss of Membrane Phospholipid Asymmetry.Oxid Med Cell Longev. 2018 Nov 11;2018:6430601. doi: 10.1155/2018/6430601. eCollection 2018.
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300 Calretinin interneuron density in the caudate nucleus is lower in autism spectrum disorder.Brain. 2017 Jul 1;140(7):2028-2040. doi: 10.1093/brain/awx131.
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321 Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.BMC Psychiatry. 2018 Aug 2;18(1):248. doi: 10.1186/s12888-018-1822-8.
322 Loss of COMMD1 and copper overload disrupt zinc homeostasis and influence an autism-associated pathway at glutamatergic synapses.Biometals. 2014 Aug;27(4):715-30. doi: 10.1007/s10534-014-9764-1. Epub 2014 Jul 10.
323 Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing.Nature. 2018 Aug;560(7719):441-446. doi: 10.1038/s41586-018-0423-5. Epub 2018 Aug 15.
324 The clinical significance of small copy number variants in neurodevelopmental disorders. J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8.
325 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.
326 Behavioral training rescues motor deficits in Cyfip1 haploinsufficiency mouse model of autism spectrum disorders.Transl Psychiatry. 2019 Jan 21;9(1):29. doi: 10.1038/s41398-018-0338-9.
327 Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder.Hum Mutat. 2018 Oct;39(10):1372-1383. doi: 10.1002/humu.23584. Epub 2018 Jul 26.
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329 Phenotypic subgrouping and multi-omics analyses reveal reduced diazepam-binding inhibitor (DBI) protein levels in autism spectrum disorder with severe language impairment.PLoS One. 2019 Mar 28;14(3):e0214198. doi: 10.1371/journal.pone.0214198. eCollection 2019.
330 Interpersonal Synchronization, Motor Coordination, and Control Are Impaired During a Dynamic Imitation Task in Children With Autism Spectrum Disorder.Front Psychol. 2018 Sep 3;9:1467. doi: 10.3389/fpsyg.2018.01467. eCollection 2018.
331 The association of environmental toxicants and autism spectrum disorders in children.Environ Pollut. 2017 Aug;227:234-242. doi: 10.1016/j.envpol.2017.04.039. Epub 2017 May 2.
332 Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction.Front Pediatr. 2017 Oct 12;5:219. doi: 10.3389/fped.2017.00219. eCollection 2017.
333 Focal Electrographic Seizures in a Patient With Autism Spectrum Disorder and Speech Delay.J Dev Behav Pediatr. 2018 Dec;39(9):763-765. doi: 10.1097/DBP.0000000000000631.
334 Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice.Transl Psychiatry. 2019 Jan 16;9(1):7. doi: 10.1038/s41398-018-0327-z.
335 Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders.Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):233-9. doi: 10.1002/ajmg.b.31148. Epub 2010 Dec 16.
336 The DLX1and DLX2 genes and susceptibility to autism spectrum disorders.Eur J Hum Genet. 2009 Feb;17(2):228-35. doi: 10.1038/ejhg.2008.148. Epub 2008 Aug 27.
337 Expression analysis and mutation detection of DLX5 and DLX6 in autism.Brain Dev. 2010 Feb;32(2):98-104. doi: 10.1016/j.braindev.2008.12.021. Epub 2009 Feb 4.
338 Autism-like social deficit generated by Dock4 deficiency is rescued by restoration of Rac1 activity and NMDA receptor function.Mol Psychiatry. 2021 May;26(5):1505-1519. doi: 10.1038/s41380-019-0472-7. Epub 2019 Aug 6.
339 Crmp4-KO Mice as an Animal Model for Investigating Certain Phenotypes of Autism Spectrum Disorders.Int J Mol Sci. 2019 May 20;20(10):2485. doi: 10.3390/ijms20102485.
340 Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.Eur J Med Genet. 2013 Aug;56(8):420-5. doi: 10.1016/j.ejmg.2013.05.006. Epub 2013 May 29.
341 Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study.Psychiatry Res. 2015 Sep 30;229(1-2):599-601. doi: 10.1016/j.psychres.2015.07.018. Epub 2015 Jul 10.
342 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.
343 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.
344 Retinal defects in mice lacking the autism-associated gene Engrailed-2.Neuroscience. 2019 Jun 1;408:177-190. doi: 10.1016/j.neuroscience.2019.03.061. Epub 2019 Apr 10.
345 Lack of the Actin Capping Protein, Eps8, Affects NMDA-Type Glutamate Receptor Function and Composition.Front Mol Neurosci. 2018 Sep 5;11:313. doi: 10.3389/fnmol.2018.00313. eCollection 2018.
346 A 1.5Mb terminal deletion of 12p associated with autism spectrum disorder.Gene. 2014 May 25;542(1):83-6. doi: 10.1016/j.gene.2014.02.058. Epub 2014 Mar 5.
347 Children With Autism Spectrum Disorder and Their Mothers Share Abnormal Expression of Selected Endogenous Retroviruses Families and Cytokines.Front Immunol. 2019 Sep 26;10:2244. doi: 10.3389/fimmu.2019.02244. eCollection 2019.
348 Alteration of gut microbiota-associated epitopes in children with autism spectrum disorders.Brain Behav Immun. 2019 Jan;75:192-199. doi: 10.1016/j.bbi.2018.10.006. Epub 2018 Oct 27.
349 A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism.Am J Med Genet A. 2014 Dec;164A(12):3035-41. doi: 10.1002/ajmg.a.36752. Epub 2014 Sep 24.
350 Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism.Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):343-8. doi: 10.1073/pnas.1309475110. Epub 2013 Dec 16.
351 Transcriptional dysregulation of neocortical circuit assembly in ASD.Int Rev Neurobiol. 2013;113:167-205. doi: 10.1016/B978-0-12-418700-9.00006-X.
352 Associations between single-nucleotide polymorphism in the FNDC3A and autism spectrum disorder in a Korean population.Psychiatry Res. 2013 Sep 30;209(2):246-8. doi: 10.1016/j.psychres.2013.02.028. Epub 2013 Apr 29.
353 A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. Eur J Hum Genet. 2011 Mar;19(3):293-9. doi: 10.1038/ejhg.2010.210. Epub 2010 Dec 8.
354 FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders.Cell. 2015 Jul 16;162(2):375-390. doi: 10.1016/j.cell.2015.06.034.
355 Altered social behavior in mice carrying a cortical Foxp2 deletion.Hum Mol Genet. 2019 Mar 1;28(5):701-717. doi: 10.1093/hmg/ddy372.
356 Does high-dose gestational folic acid increase the risk for autism? The birth order hypothesis.Med Hypotheses. 2019 Nov;132:109350. doi: 10.1016/j.mehy.2019.109350. Epub 2019 Jul 31.
357 Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder.Neurogenetics. 2018 Jan;19(1):17-26. doi: 10.1007/s10048-017-0529-1. Epub 2017 Nov 18.
358 Meta-analysis of GABRB3 Gene Polymorphisms and Susceptibility to Autism Spectrum Disorder.J Mol Neurosci. 2018 Aug;65(4):432-437. doi: 10.1007/s12031-018-1114-2. Epub 2018 Jul 18.
359 Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.Sci Transl Med. 2011 Aug 10;3(95):95ra75. doi: 10.1126/scitranslmed.3002464.
360 A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3.Eur J Hum Genet. 2017 Feb;25(2):234-239. doi: 10.1038/ejhg.2016.153. Epub 2016 Nov 23.
361 Evidence for involvement of GNB1L in autism.Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):61-71. doi: 10.1002/ajmg.b.32002. Epub 2011 Nov 16.
362 Tuning GABAergic Inhibition: Gephyrin Molecular Organization and Functions.Neuroscience. 2020 Jul 15;439:125-136. doi: 10.1016/j.neuroscience.2019.07.036. Epub 2019 Jul 26.
363 Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.Hum Mol Genet. 2007 Jul 15;16(14):1682-98. doi: 10.1093/hmg/ddm116. Epub 2007 May 21.
364 Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.J Autism Dev Disord. 2012 Jul;42(7):1459-69. doi: 10.1007/s10803-011-1389-4.
365 Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review.Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):426-433. doi: 10.1002/ajmg.b.32631. Epub 2018 Apr 27.
366 Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.J Hum Genet. 2016 Mar;61(3):199-206. doi: 10.1038/jhg.2015.141. Epub 2015 Nov 19.
367 A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. Hum Mutat. 2012 Dec;33(12):1639-46. doi: 10.1002/humu.22237.
368 Gene and miRNA expression profiles in autism spectrum disorders.Brain Res. 2011 Mar 22;1380:85-97. doi: 10.1016/j.brainres.2010.09.046. Epub 2010 Sep 21.
369 HLA Polymorphism in Regressive and Non-Regressive Autism: A Preliminary Study.Autism Res. 2020 Feb;13(2):182-186. doi: 10.1002/aur.2217. Epub 2019 Oct 8.
370 Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.Twin Res Hum Genet. 2018 Feb;21(1):1-11. doi: 10.1017/thg.2017.69. Epub 2018 Jan 8.
371 Corticostriatal circuit defects in Hoxb8 mutant mice.Mol Psychiatry. 2018 Sep;23(9):1868-1877. doi: 10.1038/mp.2017.180. Epub 2017 Sep 26.
372 Study of HOXD genes in autism particularly regarding the ratio of second to fourth digit length.Brain Dev. 2010 May;32(5):356-61. doi: 10.1016/j.braindev.2009.05.005. Epub 2009 Jun 18.
373 Allelic variants in HTR3C show association with autism.Am J Med Genet B Neuropsychiatr Genet. 2009 Jul 5;150B(5):741-6. doi: 10.1002/ajmg.b.30882.
374 Activation of IL-17 receptor leads to increased oxidative inflammation in peripheral monocytes of autistic children.Brain Behav Immun. 2018 Jan;67:335-344. doi: 10.1016/j.bbi.2017.09.010. Epub 2017 Sep 20.
375 IQ discrepancy differentiates levels of fine motor skills and their relationship in children with autism spectrum disorders.Neuropsychiatr Dis Treat. 2018 Feb 20;14:597-605. doi: 10.2147/NDT.S153102. eCollection 2018.
376 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.
377 A study of single nucleotide polymorphisms in CD157, AIM2 and JARID2 genes in Han Chinese children with autism spectrum disorder.Nord J Psychiatry. 2018 Apr;72(3):179-183. doi: 10.1080/08039488.2017.1410570. Epub 2017 Dec 7.
378 Katanin-like protein Katnal2 is required for ciliogenesis and brain development in Xenopus embryos.Dev Biol. 2018 Oct 15;442(2):276-287. doi: 10.1016/j.ydbio.2018.08.002. Epub 2018 Aug 8.
379 Unmasking a novel disease gene NEO1 associated with autism spectrum disorders by a hemizygous deletion on chromosome 15 and a functional polymorphism.Behav Brain Res. 2016 Mar 1;300:135-42. doi: 10.1016/j.bbr.2015.10.041. Epub 2015 Oct 27.
380 Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?.J Autism Dev Disord. 2018 Aug;48(8):2886-2889. doi: 10.1007/s10803-018-3552-7.
381 Neurobeachin and the Kinesin KIF21B Are Critical for Endocytic Recycling of NMDA Receptors and Regulate Social Behavior.Cell Rep. 2018 May 29;23(9):2705-2717. doi: 10.1016/j.celrep.2018.04.112.
382 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.
383 Identification of the antigenic epitopes of maternal autoantibodies in autism spectrum disorders.Brain Behav Immun. 2018 Mar;69:399-407. doi: 10.1016/j.bbi.2017.12.014. Epub 2017 Dec 28.
384 Role of an adaptor protein Lin-7B in brain development: possible involvement in autism spectrum disorders.J Neurochem. 2015 Jan;132(1):61-9. doi: 10.1111/jnc.12943. Epub 2014 Sep 26.
385 Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder.Eur J Hum Genet. 2019 Sep;27(9):1475-1480. doi: 10.1038/s41431-019-0430-5. Epub 2019 May 31.
386 Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.Sci Rep. 2018 Mar 9;8(1):4277. doi: 10.1038/s41598-018-22753-4.
387 Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features. Neurogenetics. 2019 Oct;20(4):209-213. doi: 10.1007/s10048-019-00583-4. Epub 2019 Aug 2.
388 Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.Mol Autism. 2010 Mar 25;1(1):7. doi: 10.1186/2040-2392-1-7.
389 The Long Noncoding RNA RPS10P2-AS1 Is Implicated in Autism Spectrum Disorder Risk and Modulates Gene Expression in Human Neuronal Progenitor Cells.Front Genet. 2019 Oct 15;10:970. doi: 10.3389/fgene.2019.00970. eCollection 2019.
390 Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.J Med Genet. 2018 May;55(5):307-315. doi: 10.1136/jmedgenet-2017-105024. Epub 2018 Mar 1.
391 Hyperexcitability and Hyperplasticity Disrupt Cerebellar Signal Transfer in the IB2 KO Mouse Model of Autism.J Neurosci. 2019 Mar 27;39(13):2383-2397. doi: 10.1523/JNEUROSCI.1985-18.2019. Epub 2019 Jan 29.
392 Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism.Hum Mol Genet. 2008 Aug 15;17(16):2541-51. doi: 10.1093/hmg/ddn154. Epub 2008 May 20.
393 Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.Eur J Med Genet. 2017 Oct;60(10):559-564. doi: 10.1016/j.ejmg.2017.08.003. Epub 2017 Aug 12.
394 Observational Learning in Low-Functioning Children With Autism Spectrum Disorders: A Behavioral and Neuroimaging Study.Front Psychol. 2019 Jan 9;9:2737. doi: 10.3389/fpsyg.2018.02737. eCollection 2018.
395 Expanding the phenotypic spectrum of MBOAT7-related intellectual disability.Am J Med Genet B Neuropsychiatr Genet. 2019 Oct;180(7):483-487. doi: 10.1002/ajmg.b.32749. Epub 2019 Jul 8.
396 Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.Neurogenetics. 2011 Nov;12(4):315-23. doi: 10.1007/s10048-011-0297-2. Epub 2011 Aug 12.
397 A Late Phase of Long-Term Synaptic Depression in Cerebellar Purkinje Cells Requires Activation of MEF2.Cell Rep. 2019 Jan 29;26(5):1089-1097.e3. doi: 10.1016/j.celrep.2019.01.004.
398 HLA polymorphisms in Italian children with autism spectrum disorders: results of a family based linkage study.J Neuroimmunol. 2011 Jan;230(1-2):135-42. doi: 10.1016/j.jneuroim.2010.10.019. Epub 2010 Nov 17.
399 Surface-based shared and distinct resting functional connectivity in attention-deficit hyperactivity disorder and autism spectrum disorder.Br J Psychiatry. 2019 Jun;214(6):339-344. doi: 10.1192/bjp.2018.248.
400 Olfactory stem cells reveal MOCOS as a new player in autism spectrum disorders.Mol Psychiatry. 2016 Sep;21(9):1215-24. doi: 10.1038/mp.2015.106. Epub 2015 Aug 4.
401 Brain enhancer activities at the gene-poor 5p14.1 autism-associated locus.Sci Rep. 2016 Aug 9;6:31227. doi: 10.1038/srep31227.
402 Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.Nat Genet. 2013 Jul;45(7):822-4. doi: 10.1038/ng.2637. Epub 2013 May 26.
403 The Contribution of Mosaic Variants to Autism Spectrum Disorder.PLoS Genet. 2016 Sep 15;12(9):e1006245. doi: 10.1371/journal.pgen.1006245. eCollection 2016 Sep.
404 Sex-specific association of a common variant of the XG gene with autism spectrum disorders.Am J Med Genet B Neuropsychiatr Genet. 2013 Oct;162B(7):742-50. doi: 10.1002/ajmg.b.32165.
405 CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77. doi: 10.1073/pnas.1405266111. Epub 2014 Oct 7.
406 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.
407 Family-based association study between NOS-I and -IIA polymorphisms and autism spectrum disorders in Korean trios.Am J Med Genet B Neuropsychiatr Genet. 2009 Mar 5;150B(2):300-6. doi: 10.1002/ajmg.b.30798.
408 Examining the relationships of parental stress, family support and family quality of life: A structural equation modeling approach.Res Dev Disabil. 2020 Jan;96:103523. doi: 10.1016/j.ridd.2019.103523. Epub 2019 Nov 27.
409 NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?.Eur J Med Genet. 2016 Oct;59(10):493-8. doi: 10.1016/j.ejmg.2016.08.006. Epub 2016 Sep 2.
410 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.
411 Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis.Am J Med Genet A. 2018 Nov;176(11):2466-2469. doi: 10.1002/ajmg.a.40354. Epub 2018 Oct 5.
412 Expression analyses of the mitochondrial complex I 75-kDa subunit in early onset schizophrenia and autism spectrum disorder: increased levels as a potential biomarker for early onset schizophrenia.Eur Child Adolesc Psychiatry. 2010 May;19(5):441-8. doi: 10.1007/s00787-009-0074-z. Epub 2009 Nov 6.
413 Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.Hum Genet. 2015 Feb;134(2):191-201. doi: 10.1007/s00439-014-1513-6. Epub 2014 Nov 29.
414 NEGR1 and FGFR2 cooperatively regulate cortical development and core behaviours related to autism disorders in mice.Brain. 2018 Sep 1;141(9):2772-2794. doi: 10.1093/brain/awy190.
415 Cut-like homeobox 1 and nuclear factor I/B mediate ENGRAILED2 autism spectrum disorder-associated haplotype function.Hum Mol Genet. 2012 Apr 1;21(7):1566-80. doi: 10.1093/hmg/ddr594. Epub 2011 Dec 16.
416 NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.Anatol J Cardiol. 2017 Mar;17(3):217-223. doi: 10.14744/AnatolJCardiol.2016.7222. Epub 2016 Oct 12.
417 Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.Hum Mol Genet. 2013 May 15;22(10):2055-66. doi: 10.1093/hmg/ddt056. Epub 2013 Feb 7.
418 Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder.Hum Genet. 2018 Oct;137(10):807-815. doi: 10.1007/s00439-018-1939-3. Epub 2018 Oct 1.
419 Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls.BMC Med Genet. 2010 Jul 5;11:108. doi: 10.1186/1471-2350-11-108.
420 Temporal Regulation of Dendritic Spines Through NrCAM-Semaphorin3F Receptor Signaling in Developing Cortical Pyramidal Neurons.Cereb Cortex. 2019 Mar 1;29(3):963-977. doi: 10.1093/cercor/bhy004.
421 Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder.Front Mol Neurosci. 2017 Aug 10;10:250. doi: 10.3389/fnmol.2017.00250. eCollection 2017.
422 11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.Am J Med Genet A. 2015 Dec;167A(12):3019-30. doi: 10.1002/ajmg.a.37345. Epub 2015 Sep 3.
423 Integrative analysis of shared genetic pathogenesis by autism spectrum disorder and obsessive-compulsive disorder.Biosci Rep. 2019 Dec 20;39(12):BSR20191942. doi: 10.1042/BSR20191942.
424 Brief Report: Cannabidiol-Rich Cannabis in Children with Autism Spectrum Disorder and Severe Behavioral Problems-A Retrospective Feasibility Study.J Autism Dev Disord. 2019 Mar;49(3):1284-1288. doi: 10.1007/s10803-018-3808-2.
425 2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.Eur J Hum Genet. 2011 Dec;19(12):1264-70. doi: 10.1038/ejhg.2011.112. Epub 2011 Jul 13.
426 Effect of age and autism spectrum disorder on oxytocin receptor density in the human basal forebrain and midbrain.Transl Psychiatry. 2018 Dec 4;8(1):257. doi: 10.1038/s41398-018-0315-3.
427 Lis1 controls dynamics of neuronal filopodia and spines to impact synaptogenesis and social behaviour.EMBO Mol Med. 2013 Apr;5(4):591-607. doi: 10.1002/emmm.201202106. Epub 2013 Mar 11.
428 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.
429 Aberrant functional connectivity of inhibitory control networks in children with autism spectrum disorder.Autism Res. 2018 Nov;11(11):1468-1478. doi: 10.1002/aur.2014. Epub 2018 Oct 1.
430 Autism-associated protein kinase D2 regulates embryonic cortical neuron development.Biochem Biophys Res Commun. 2019 Nov 12;519(3):626-632. doi: 10.1016/j.bbrc.2019.09.048. Epub 2019 Sep 18.
431 A Upf3b-mutant mouse model with behavioral and neurogenesis defects.Mol Psychiatry. 2018 Aug;23(8):1773-1786. doi: 10.1038/mp.2017.173. Epub 2017 Sep 26.
432 Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development.J Genet Genomics. 2019 May 20;46(5):247-257. doi: 10.1016/j.jgg.2019.04.002. Epub 2019 May 18.
433 RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders.PLoS One. 2011;6(9):e23356. doi: 10.1371/journal.pone.0023356. Epub 2011 Sep 7.
434 Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.J Med Genet. 2011 Jan;48(1):48-54. doi: 10.1136/jmg.2010.079426. Epub 2010 Oct 23.
435 DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families.Behav Brain Funct. 2012 May 4;8:19. doi: 10.1186/1744-9081-8-19.
436 Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample.J Mol Neurosci. 2020 Feb;70(2):219-229. doi: 10.1007/s12031-019-01456-z. Epub 2019 Dec 14.
437 Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.Autism Res. 2020 Feb;13(2):199-206. doi: 10.1002/aur.2238. Epub 2019 Nov 6.
438 Plasma peroxiredoxin changes and inflammatory cytokines support the involvement of neuro-inflammation and oxidative stress in Autism Spectrum Disorder.J Transl Med. 2019 Oct 2;17(1):332. doi: 10.1186/s12967-019-2076-z.
439 Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene.J Clin Med. 2019 Feb 7;8(2):212. doi: 10.3390/jcm8020212.
440 Teaching Literacy Skills to French Minimally Verbal School-Aged Children with Autism Spectrum Disorders with the Serious Game SEMA-TIC: An Exploratory Study.Front Psychol. 2017 Sep 5;8:1523. doi: 10.3389/fpsyg.2017.01523. eCollection 2017.
441 Altered mRNA Levels of Glucocorticoid Receptor, Mineralocorticoid Receptor, and Co-Chaperones (FKBP5 and PTGES3) in the Middle Frontal Gyrus of Autism Spectrum Disorder Subjects.Mol Neurobiol. 2016 May;53(4):2090-9. doi: 10.1007/s12035-015-9178-2. Epub 2015 Apr 26.
442 MeCP2+/- mouse model of RTT reproduces auditory phenotypes associated with Rett syndrome and replicate select EEG endophenotypes of autism spectrum disorder.Neurobiol Dis. 2012 Apr;46(1):88-92. doi: 10.1016/j.nbd.2011.12.048. Epub 2012 Jan 9.
443 Resequencing and association analysis of PTPRA, a possible susceptibility gene for schizophrenia and autism spectrum disorders.PLoS One. 2014 Nov 13;9(11):e112531. doi: 10.1371/journal.pone.0112531. eCollection 2014.
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