Details of Disease

General Information of Disease (ID: DISUXHZ6)

Disease Name Isolated congenital microcephaly
Synonyms primary microcephaly; true microcephaly; microcephaly, primary
Disease Hierarchy
DIS2GRD8: Microcephaly
DISUXHZ6: Isolated congenital microcephaly
Disease Identifiers
MONDO ID
MONDO_0016056
MESH ID
D008831
UMLS CUI
C0025958
MedGen ID
44422
Orphanet ID
199642

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 53 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CIT TT3BKTU Limited Genetic Variation [1]
KAT6A TT6O1J0 Limited Genetic Variation [2]
MECP2 TTTAU9R Limited Genetic Variation [3]
NSD1 TTTSJ3H Limited Genetic Variation [4]
PHGDH TT8DRCK Limited Biomarker [5]
PNKP TTHR3IE Limited Biomarker [6]
RXRG TTH029C Limited Biomarker [7]
SLC19A3 TT9BTWM Limited Genetic Variation [8]
SLC1A3 TT8WRDA Limited Genetic Variation [9]
SLC2A1 TT79TKF Limited Genetic Variation [10]
ZEB2 TTT2WK4 Limited Genetic Variation [11]
AIMP2 TTXWHGF moderate Genetic Variation [12]
BCL11A TTR61MW moderate Biomarker [13]
CDK12 TTJ21A9 moderate Biomarker [14]
CREBBP TTFRCTK moderate Genetic Variation [15]
DLL1 TT9CFQD moderate Altered Expression [16]
GATA4 TT1VDN2 moderate Genetic Variation [17]
GPR63 TT2D5VM moderate Biomarker [18]
KCNT1 TTGJFK1 moderate Genetic Variation [19]
KIF11 TTBGTCW moderate Biomarker [20]
KIF26B TTQWICZ moderate Biomarker [21]
L1CAM TTC9D3K moderate Genetic Variation [22]
LSS TT7O8ZA moderate Biomarker [23]
MAPK1 TT4TQBX moderate Genetic Variation [24]
MLNR TT953CX moderate Genetic Variation [25]
PGD TTZ3IFB moderate Biomarker [5]
PLK4 TTGPNZQ moderate Genetic Variation [26]
PRMT7 TTAR2P0 moderate Biomarker [27]
RAC1 TT2M9CG moderate Genetic Variation [28]
RGS6 TTJ96M8 moderate Biomarker [29]
SCN2A TTLJTUF moderate Genetic Variation [30]
TRPV6 TTBK14N moderate Genetic Variation [31]
AKT3 TTO6SGY Strong Genetic Variation [32]
ATP1A2 TT5B6HJ Strong Biomarker [33]
ATR TT8ZYBQ Strong Biomarker [34]
BRD4 TTSRAOU Strong Biomarker [35]
CDK19 TTNABU9 Strong Biomarker [36]
CNTN2 TT2Z1WB Strong Biomarker [37]
DNMT3A TTJUALD Strong Biomarker [38]
DYRK1A TTSBVFO Strong Genetic Variation [39]
FBXO11 TT6G10V Strong Genetic Variation [40]
IGF1R TTQFBMY Strong Genetic Variation [41]
KIF20B TTQECT2 Strong Genetic Variation [42]
LINGO1 TTZYQ80 Strong Genetic Variation [43]
MYCN TT9JBY5 Strong Genetic Variation [44]
PDPK1 TTYMGWX Strong Genetic Variation [45]
RAD51 TTC0G1L Strong Genetic Variation [46]
SMPD4 TTZSJIV Strong Biomarker [47]
TAF2 TTHMP8B Strong Genetic Variation [48]
TDP1 TT64IHJ Strong Genetic Variation [49]
PAH TTGSVH2 Definitive Genetic Variation [50]
SHH TTIENCJ Definitive Genetic Variation [51]
SLC5A6 TT61XTV Definitive Biomarker [52]
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⏷ Show the Full List of 53 DTT(s)
This Disease Is Related to 4 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC1A4 DTC54PX Strong Biomarker [53]
SLC25A19 DTT82QK Strong Biomarker [8]
SLC9A6 DTN0JXW Strong Genetic Variation [54]
SLC9C2 DT2N5HO Strong Genetic Variation [55]
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This Disease Is Related to 4 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
DHCR7 DEL7GFA moderate Biomarker [56]
QARS1 DEVSTRI Strong Genetic Variation [57]
ASNS DEXISVQ Definitive Genetic Variation [58]
VARS1 DEUPF5K Definitive Genetic Variation [59]
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This Disease Is Related to 211 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANKLE2 OTHCYR6Y Limited Biomarker [60]
AUTS2 OTAEXHSC Limited Genetic Variation [61]
CDC6 OTX93FE7 Limited Biomarker [62]
DYM OTQ670WI Limited Biomarker [63]
EPG5 OT3P5HQD Limited Biomarker [64]
GEMIN2 OT4L6TLL Limited Genetic Variation [65]
HEPACAM2 OTQ90IG5 Limited Biomarker [66]
ITSN1 OT8YF3S5 Limited Biomarker [67]
KIF14 OTXHT4JM Limited Genetic Variation [68]
MFSD2A OTVG1VG0 Limited Biomarker [69]
NCAPH OTXOS97C Limited Biomarker [70]
NDE1 OT2N8Q17 Limited Genetic Variation [71]
NSUN2 OTZCNM33 Limited Genetic Variation [72]
ORC4 OT3ACTST Limited Genetic Variation [73]
PCNT OTW4Z65J Limited Biomarker [74]
PEX6 OTFAK5EF Limited Biomarker [75]
PISD OTP9COQT Limited Biomarker [76]
POMT1 OTGQSHL5 Limited Genetic Variation [77]
PPP1R15B OTL5RWA8 Limited Biomarker [78]
PQBP1 OTXCBEAH Limited Biomarker [79]
SCAF11 OTX59D0X Limited Genetic Variation [65]
TLK1 OTICTXI8 Limited Biomarker [80]
TPK1 OTCHPUD0 Limited Biomarker [8]
AP4B1 OTGJUIRA Disputed Genetic Variation [81]
ARID1A OTRWDV3P Disputed Biomarker [82]
ATRX OT77RSQW Disputed Altered Expression [83]
NAA10 OTYB9R6I Disputed Genetic Variation [84]
PUF60 OTG90DYF Disputed Genetic Variation [85]
AARS1 OTW8D813 moderate Genetic Variation [86]
ACTB OT1MCP2F moderate Genetic Variation [87]
ADGRL2 OTCXD2YR moderate Biomarker [88]
AFG3L2 OTRPMAUX moderate Genetic Variation [89]
ATP1A3 OTM8EG6H moderate Genetic Variation [90]
BLVRB OTHCFN2C moderate Biomarker [91]
BPTF OTD1RZAD moderate Genetic Variation [92]
CCDC88A OT3SSYYC moderate Biomarker [93]
CDK16 OTUBXIIT moderate Altered Expression [94]
CDKL5 OTGL5HRV moderate Genetic Variation [95]
CELSR1 OT7PS8O1 moderate Genetic Variation [96]
CEP170 OTNTK4Q6 moderate Biomarker [97]
CH25H OT9S2BSW moderate Biomarker [98]
CHD8 OTS7A6AF moderate Genetic Variation [30]
CNTROB OTR7C7NR moderate Biomarker [99]
COG7 OTCV4JC1 moderate Genetic Variation [100]
COLQ OT4BHUGQ moderate Biomarker [101]
COX7B OT67PIDP moderate Biomarker [102]
DCLRE1C OTW3KB1I moderate Biomarker [103]
DDT OTF5HTYL moderate Altered Expression [104]
DDX11 OT1WR3MD moderate Genetic Variation [105]
DDX59 OTHJANS0 moderate Genetic Variation [106]
DHX37 OTM1A5KP moderate Genetic Variation [107]
DONSON OTN5HE0W moderate Genetic Variation [108]
DPP6 OTWW3H0K moderate Biomarker [109]
DYNC1I2 OTS0UOL5 moderate Biomarker [110]
ERCC6 OT2QZKSF moderate Genetic Variation [111]
FEZF2 OTU4TXIW moderate Altered Expression [112]
FKTN OTQ9GCXL moderate Genetic Variation [113]
FMN2 OTUY7BSV moderate Biomarker [114]
HMGN2 OTN20MEF moderate Altered Expression [115]
KCTD13 OTSKZ1KM moderate Biomarker [116]
KIF2A OT2WQ6QD moderate Biomarker [97]
LAGE3 OTKBQHZI moderate Genetic Variation [117]
LINS1 OT1USO08 moderate Genetic Variation [118]
MBD5 OTFHT4MO moderate Genetic Variation [119]
MED17 OTEZR5GC moderate Genetic Variation [120]
MED25 OTDBY87B moderate Genetic Variation [121]
METTL5 OTR0OO41 moderate Biomarker [122]
MNX1 OTXP9FH1 moderate Genetic Variation [123]
MTHFS OTZ39JNR moderate Genetic Variation [124]
NBN OT73B5MD moderate Genetic Variation [125]
NCAPG2 OTZYENKO moderate Genetic Variation [126]
NDEL1 OTAGFML5 moderate Biomarker [127]
NDP OTGDJ4US moderate Genetic Variation [128]
NEUROD2 OTJMMX9K moderate Biomarker [129]
NR2E1 OTW47GKM moderate Genetic Variation [130]
NRXN1 OTJN1JQA moderate Genetic Variation [131]
NUFIP1 OT9ZVFRZ moderate Genetic Variation [25]
NUP133 OTC294HE moderate Biomarker [132]
ORC1 OTHWU8IJ moderate Genetic Variation [73]
OSGEP OT38HX9V moderate Biomarker [117]
PARP11 OTBJKRCU moderate Biomarker [133]
PCDH15 OTU9C2EH moderate Genetic Variation [134]
PCDH8 OTDDOQM2 moderate Genetic Variation [25]
PIAS4 OTB7SVMZ moderate Biomarker [135]
POFUT1 OTOBJZIT moderate Genetic Variation [136]
POLG OTDUCT04 moderate Biomarker [137]
POMGNT1 OTBNOUZC moderate Genetic Variation [138]
PTCH1 OTMG07H5 moderate Genetic Variation [139]
RARS2 OT3WLAD8 moderate Genetic Variation [140]
RMI1 OT1ZVTFL moderate Genetic Variation [141]
RPS23 OTAJMUPF moderate Biomarker [142]
SASS6 OT1V8H40 moderate Biomarker [143]
SEC24C OTMTJBQ1 moderate Biomarker [144]
SNAP29 OTT30ZON moderate Biomarker [145]
SOX11 OT4LG7LA moderate Genetic Variation [146]
SPTAN1 OT6VY3A3 moderate Genetic Variation [147]
STIL OT9799VN moderate Biomarker [148]
TAF13 OT1XMYAD moderate Genetic Variation [149]
TASP1 OTOX7946 moderate Genetic Variation [150]
TBC1D23 OTJMGQNZ moderate Genetic Variation [151]
TBCD OTS4JKNQ moderate Biomarker [152]
TBCE OTGBSTKS moderate Biomarker [153]
TP53RK OTARRZAB moderate Genetic Variation [117]
TPRKB OTV4QEVT moderate Genetic Variation [117]
TRAPPC9 OTF0CVMC moderate Genetic Variation [154]
TTC21B OTXXA87U moderate Biomarker [18]
AARS2 OTOB0KSG Strong Genetic Variation [86]
AGMO OTGMAHAT Strong Genetic Variation [155]
ALDH18A1 OT6W40XU Strong Genetic Variation [156]
AMPD2 OTBS30JU Strong Biomarker [157]
APTX OTPAS5G8 Strong Genetic Variation [49]
ASPM OTKXQMNA Strong Genetic Variation [158]
BCS1L OT5PY5CY Strong Genetic Variation [159]
BRAT1 OT5ABVYX Strong Genetic Variation [160]
BRCA1 OT5BN6VH Strong Biomarker [161]
BUB1B OT8KME51 Strong Biomarker [162]
C2CD3 OTC52E7V Strong Genetic Variation [163]
CARS1 OTOUZF6O Strong Biomarker [164]
CDK5RAP2 OTRKEVTY Strong Biomarker [165]
CENPF OT7AG0SW Strong Biomarker [166]
CENPJ OTZCQZN5 Strong Genetic Variation [167]
CEP63 OTX3TTZH Strong Biomarker [168]
CHMP1A OTVQ5UWX Strong Genetic Variation [169]
CLP1 OTPY965Y Strong Biomarker [170]
CLTC OTBFASMA Strong Genetic Variation [171]
COPB2 OT82JIGC Strong Genetic Variation [172]
COX20 OTXL7EP2 Strong Biomarker [173]
CPLANE1 OTXGGNNB Strong Genetic Variation [174]
CXCL6 OTFTCQ4O Strong Genetic Variation [175]
DIAPH1 OTZBYPLH Strong Genetic Variation [176]
DNM1L OTXK1Q1G Strong Genetic Variation [177]
DYNC1H1 OTD1KRKO Strong Biomarker [178]
EFEMP2 OT0I2B4J Strong Genetic Variation [179]
EFTUD2 OT3X7QG2 Strong Genetic Variation [180]
EIF2S3 OTARRES9 Strong Genetic Variation [181]
EOMES OTB9VQFA Strong Genetic Variation [112]
EPRS1 OTXK0FLB Strong Genetic Variation [57]
EXOSC3 OTNCF906 Strong Genetic Variation [182]
FARSB OT8N9TT5 Strong Biomarker [183]
FOXL2 OTFRQUYL Strong Genetic Variation [34]
FZR1 OT0WGWZS Strong Genetic Variation [184]
GOLGA2 OT5S9KYM Strong Biomarker [185]
GOLGA4 OTCMEHNJ Strong Genetic Variation [175]
GOT2 OT6XBWN0 Strong Biomarker [186]
GPKOW OTGS3H0M Strong Biomarker [187]
GPT2 OTS5VF7N Strong Genetic Variation [188]
HNRNPU OTLQN1E2 Strong Biomarker [189]
IARS1 OT9WXH5N Strong Biomarker [190]
IFI16 OT4SPU0U Strong Altered Expression [191]
IVNS1ABP OTYHL4I7 Strong Biomarker [192]
KARS1 OT0EU4SV Strong Genetic Variation [193]
KATNB1 OT7CLZKS Strong Genetic Variation [194]
KIF1B OTI1XQTO Strong Biomarker [195]
KIF5C OT35570Y Strong Biomarker [178]
KIFBP OT1XADKG Strong Genetic Variation [196]
KNL1 OT4Q3LHV Strong Genetic Variation [197]
LIG4 OT40DNXU Strong Genetic Variation [198]
MAD2L1BP OT2O2IUJ Strong Biomarker [195]
MAST1 OTEYFN5O Strong Biomarker [199]
MYO16 OTMS3D8W Strong Genetic Variation [200]
NHEJ1 OTYOO05J Strong Genetic Variation [201]
NLRP2 OTJA81JU Strong Biomarker [202]
NOSIP OTQTNFPJ Strong Altered Expression [203]
NOTCH2NLA OTD5QPCI Strong Genetic Variation [204]
NSD2 OTQ6SW4R Strong Genetic Variation [205]
NTNG2 OTTY88DL Strong Biomarker [206]
NUP214 OTWEA19O Strong Biomarker [207]
PAFAH1B1 OT9T2TCJ Strong Biomarker [174]
PAX6 OTOC9876 Strong Biomarker [208]
PCDH12 OT2VANLI Strong Biomarker [209]
PIGH OTMCFF0K Strong Genetic Variation [210]
POMT2 OTO1ZQZX Strong Genetic Variation [211]
PRUNE1 OTQ3UHWQ Strong Genetic Variation [212]
PSMD12 OTWICA51 Strong Biomarker [213]
PUS3 OT6WG6M2 Strong Biomarker [214]
PUS7 OTE5AQHJ Strong Genetic Variation [215]
PYCR2 OTS2HLGD Strong Genetic Variation [216]
RBBP8 OTRHJ3GI Strong Genetic Variation [217]
RBM8A OT5SR6G0 Strong Biomarker [218]
RPL10 OTBHOZGC Strong Biomarker [219]
RTTN OT5PB986 Strong Genetic Variation [220]
SCN7A OTK05PXY Strong Biomarker [221]
SCRIB OTW4N3FV Strong Genetic Variation [85]
SEPSECS OTP0FHOV Strong Genetic Variation [222]
SIN3A OTM8OZWV Strong Biomarker [223]
SMC3 OTWGFRHD Strong Biomarker [224]
SMPD3 OTHQBETH Strong Altered Expression [225]
SNX3 OTXL5W8F Strong Genetic Variation [226]
STAG2 OTR6X1Q7 Strong Biomarker [227]
STAMBP OTOT2OXM Strong Genetic Variation [228]
TARS2 OTXQY23P Strong Genetic Variation [229]
TCF4 OTB9ASTK Strong Biomarker [230]
TLK2 OTZ09CG8 Strong Genetic Variation [80]
TRAIP OTMPT9Y2 Strong Biomarker [231]
TRAPPC2 OTWL5H45 Strong Genetic Variation [232]
TRIP13 OTFM3TI9 Strong Biomarker [233]
TRMT10A OTQ5AKN4 Strong Genetic Variation [234]
TRRAP OT68OI2Y Strong Biomarker [235]
TSEN15 OT14UW31 Strong Biomarker [236]
TSEN34 OTH5FQHP Strong Biomarker [237]
TSEN54 OT7MR9LY Strong Biomarker [237]
CASK OT8EF7ZF Definitive Genetic Variation [238]
COG6 OTDLQITC Definitive Biomarker [239]
EMX2 OT0V8OYK Definitive Genetic Variation [240]
FOXG1 OTAW57J4 Definitive Biomarker [241]
IMMT OTBDSLE7 Definitive Genetic Variation [1]
KATNAL1 OTBUZ7KA Definitive Biomarker [242]
LSM2 OTHL77NY Definitive Biomarker [240]
SNRPE OT18J6E8 Definitive Genetic Variation [240]
TOP3A OT3CKUI9 Definitive Genetic Variation [141]
TSEN2 OT1UWYRI Definitive Biomarker [237]
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⏷ Show the Full List of 211 DOT(s)

References

1 Biallelic variants in KIF14 cause intellectual disability with microcephaly.Eur J Hum Genet. 2018 Mar;26(3):330-339. doi: 10.1038/s41431-017-0088-9. Epub 2018 Jan 17.
2 A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.J Hum Genet. 2018 Sep;63(9):997-1001. doi: 10.1038/s10038-018-0469-0. Epub 2018 Jun 13.
3 Neuropsychiatric "Comorbidity" as Causal Influence in Autism.J Am Acad Child Adolesc Psychiatry. 2020 Feb;59(2):229-235. doi: 10.1016/j.jaac.2019.07.008. Epub 2019 Jul 22.
4 A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil.Genet Mol Res. 2017 Jan 23;16(1). doi: 10.4238/gmr16019197.
5 D-3-Phosphoglycerate Dehydrogenase.Front Mol Biosci. 2018 Dec 13;5:110. doi: 10.3389/fmolb.2018.00110. eCollection 2018.
6 PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder.Parkinsonism Relat Disord. 2019 Jul;64:342-345. doi: 10.1016/j.parkreldis.2019.03.012. Epub 2019 Apr 1.
7 Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.Am J Med Genet A. 2016 Sep;170(9):2394-9. doi: 10.1002/ajmg.a.37785. Epub 2016 Jun 3.
8 Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata.Sci Rep. 2017 Jul 13;7(1):5342. doi: 10.1038/s41598-017-05476-w.
9 The mouse and human excitatory amino acid transporter gene (EAAT1) maps to mouse chromosome 15 and a region of syntenic homology on human chromosome 5.Genomics. 1994 Aug;22(3):631-3. doi: 10.1006/geno.1994.1437.
10 Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.J Neurol. 2019 Jun;266(6):1439-1448. doi: 10.1007/s00415-019-09280-6. Epub 2019 Mar 20.
11 The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.Am J Med Genet A. 2014 Aug;164A(8):1899-908. doi: 10.1002/ajmg.a.36551. Epub 2014 Apr 8.
12 Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. J Hum Genet. 2018 Jan;63(1):19-25. doi: 10.1038/s10038-017-0363-1. Epub 2017 Nov 16.
13 BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. Am J Hum Genet. 2016 Aug 4;99(2):253-74. doi: 10.1016/j.ajhg.2016.05.030. Epub 2016 Jul 21.
14 Cdk12 Regulates Neurogenesis and Late-Arising Neuronal Migration in the Developing Cerebral Cortex.Cereb Cortex. 2017 Mar 1;27(3):2289-2302. doi: 10.1093/cercor/bhw081.
15 Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.Eur J Med Genet. 2012 Dec;55(12):747-52. doi: 10.1016/j.ejmg.2012.09.006. Epub 2012 Sep 29.
16 Dynamic control of neural stem cells by bHLH factors.Neurosci Res. 2019 Jan;138:12-18. doi: 10.1016/j.neures.2018.09.005. Epub 2018 Sep 15.
17 Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.Dis Markers. 2010;28(5):287-92. doi: 10.3233/DMA-2010-0703.
18 Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants.PLoS Genet. 2019 Nov 15;15(11):e1008467. doi: 10.1371/journal.pgen.1008467. eCollection 2019 Nov.
19 KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.Brain. 2019 Oct 1;142(10):2996-3008. doi: 10.1093/brain/awz240.
20 Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly.Eur J Hum Genet. 2018 Dec;26(12):1819-1823. doi: 10.1038/s41431-018-0243-y. Epub 2018 Sep 4.
21 Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly.Am J Med Genet A. 2017 Apr;173(4):972-977. doi: 10.1002/ajmg.a.38139.
22 A novel missense mutation in the L1CAM gene in a boy with L1 disease.Neurol Sci. 2006 Jun;27(2):114-7. doi: 10.1007/s10072-006-0610-2.
23 Congenital cataract with LSS gene mutations: a new case report.J Pediatr Endocrinol Metab. 2017 Oct 26;30(11):1231-1235. doi: 10.1515/jpem-2017-0101.
24 Central 22q11.2 deletions.Am J Med Genet A. 2014 Nov;164A(11):2707-23. doi: 10.1002/ajmg.a.36711. Epub 2014 Aug 14.
25 Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.Eur J Hum Genet. 2011 Sep;19(9):947-58. doi: 10.1038/ejhg.2011.58. Epub 2011 Apr 20.
26 Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. Eur J Hum Genet. 2016 Dec;24(12):1702-1706. doi: 10.1038/ejhg.2016.119. Epub 2016 Sep 21.
27 Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.Clin Genet. 2017 May;91(5):708-716. doi: 10.1111/cge.12884. Epub 2016 Nov 30.
28 RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. Am J Hum Genet. 2017 Sep 7;101(3):466-477. doi: 10.1016/j.ajhg.2017.08.007.
29 RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family.Invest Ophthalmol Vis Sci. 2014 Dec 18;56(2):1261-6. doi: 10.1167/iovs.14-15198.
30 Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.Mol Psychiatry. 2017 Sep;22(9):1282-1290. doi: 10.1038/mp.2017.140. Epub 2017 Jul 25.
31 Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.Mol Genet Genomic Med. 2020 Feb;8(2):e957. doi: 10.1002/mgg3.957. Epub 2019 Sep 30.
32 Akt3 deletion in mice impairs spatial cognition and hippocampal CA1 long long-term potentiation through downregulation of mTOR.Acta Physiol (Oxf). 2019 Jan;225(1):e13167. doi: 10.1111/apha.13167. Epub 2018 Aug 13.
33 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. Eur J Med Genet. 2020 Jan;63(1):103624. doi: 10.1016/j.ejmg.2019.01.014. Epub 2019 Jan 25.
34 Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion.Pediatr Neurol. 2014 Jun;50(6):636-9. doi: 10.1016/j.pediatrneurol.2014.01.055. Epub 2014 Feb 10.
35 Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.Ann Hum Genet. 2019 Mar;83(2):100-109. doi: 10.1111/ahg.12289. Epub 2018 Oct 10.
36 CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation. Hum Genet. 2010 Sep;128(3):281-91. doi: 10.1007/s00439-010-0848-x. Epub 2010 Jun 22.
37 The gene for the axonal cell adhesion molecule TAX-1 is amplified and aberrantly expressed in malignant gliomas. Cancer Res. 2001 Mar 1;61(5):2162-8.
38 Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. Nat Genet. 2019 Jan;51(1):96-105. doi: 10.1038/s41588-018-0274-x. Epub 2018 Nov 26.
39 A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report.Front Genet. 2019 Nov 19;10:1194. doi: 10.3389/fgene.2019.01194. eCollection 2019.
40 De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.Hum Genet. 2018 May;137(5):401-411. doi: 10.1007/s00439-018-1892-1. Epub 2018 May 23.
41 IGF1R Variants in Patients With Growth Impairment: Four Novel Variants and Genotype-Phenotype Correlations.J Clin Endocrinol Metab. 2018 Nov 1;103(11):3939-3944. doi: 10.1210/jc.2017-02782.
42 Mutation of Kinesin-6 Kif20b causes defects in cortical neuron polarization and morphogenesis.Neural Dev. 2017 Mar 31;12(1):5. doi: 10.1186/s13064-017-0082-5.
43 Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.Genet Med. 2018 Jul;20(7):778-784. doi: 10.1038/gim.2017.113. Epub 2017 Aug 24.
44 Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.Am J Med Genet A. 2018 Sep;176(9):1956-1963. doi: 10.1002/ajmg.a.40355. Epub 2018 Aug 8.
45 A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.Genet Med. 2019 May;21(5):1058-1064. doi: 10.1038/s41436-018-0290-3. Epub 2018 Sep 24.
46 A Japanese patient with RAD51-associated Fanconi anemia.Am J Med Genet A. 2019 Jun;179(6):900-902. doi: 10.1002/ajmg.a.61130. Epub 2019 Mar 25.
47 Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.
48 Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2. Pediatr Neurol. 2013 Dec;49(6):411-416.e1. doi: 10.1016/j.pediatrneurol.2013.07.017. Epub 2013 Sep 29.
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50 Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.Orphanet J Rare Dis. 2019 Jul 22;14(1):181. doi: 10.1186/s13023-019-1153-y.
51 Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.Eur J Med Genet. 2008 Nov-Dec;51(6):658-65. doi: 10.1016/j.ejmg.2008.07.011. Epub 2008 Aug 13.
52 Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects.Am J Physiol Cell Physiol. 2018 Jul 1;315(1):C73-C79. doi: 10.1152/ajpcell.00319.2017. Epub 2018 Apr 18.
53 Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.J Hum Genet. 2016 Aug;61(8):761-4. doi: 10.1038/jhg.2016.44. Epub 2016 May 19.
54 Xq26 duplications lead to undergrowth or overgrowth via competing pathways including GPC3/GPC4.Ann Hum Genet. 2020 Mar;84(2):201-204. doi: 10.1111/ahg.12357. Epub 2019 Oct 3.
55 A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).Epilepsy Res. 2014 May;108(4):811-5. doi: 10.1016/j.eplepsyres.2014.02.009. Epub 2014 Feb 19.
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57 Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation. Neurogenetics. 2017 Jul;18(3):141-146. doi: 10.1007/s10048-017-0516-6. Epub 2017 Jun 15.
58 Cyst-Peritoneal Shunt for the Treatment of a Progressive Intracerebral Cyst Associated with ASNS Mutation: Case Report and Literature Review.World Neurosurg. 2019 Jul;127:1-7. doi: 10.1016/j.wneu.2019.02.130. Epub 2019 Mar 4.
59 Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w.
60 Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.Dev Cell. 2019 Dec 16;51(6):713-729.e6. doi: 10.1016/j.devcel.2019.10.009. Epub 2019 Nov 14.
61 AUTS2 isoforms control neuronal differentiation.Mol Psychiatry. 2021 Feb;26(2):666-681. doi: 10.1038/s41380-019-0409-1. Epub 2019 Apr 5.
62 Zebrafish cdc6 hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype.Hum Mol Genet. 2017 Nov 1;26(21):4168-4180. doi: 10.1093/hmg/ddx305.
63 Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.Hum Mol Genet. 2015 May 15;24(10):2771-83. doi: 10.1093/hmg/ddv038. Epub 2015 Feb 4.
64 Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.Am J Med Genet A. 2017 Mar;173(3):706-711. doi: 10.1002/ajmg.a.38061. Epub 2017 Feb 7.
65 Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.Am J Med Genet A. 2003 Jun 15;119A(3):257-65. doi: 10.1002/ajmg.a.20053.
66 Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.Am J Med Genet A. 2010 May;152A(5):1244-9. doi: 10.1002/ajmg.a.33369.
67 A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay.Am J Med Genet A. 2014 Apr;164A(4):1021-8. doi: 10.1002/ajmg.a.36377. Epub 2014 Jan 23.
68 Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.Hum Mol Genet. 2019 Mar 1;28(5):778-795. doi: 10.1093/hmg/ddy381.
69 The lysolipid transporter Mfsd2a regulates lipogenesis in the developing brain.PLoS Biol. 2018 Aug 3;16(8):e2006443. doi: 10.1371/journal.pbio.2006443. eCollection 2018 Aug.
70 Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes Dev. 2016 Oct 1;30(19):2158-2172. doi: 10.1101/gad.286351.116. Epub 2016 Oct 13.
71 Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. Am J Med Genet A. 2019 Mar;179(3):494-497. doi: 10.1002/ajmg.a.61035. Epub 2019 Jan 13.
72 Cytosine-5 RNA Methylation Regulates Neural Stem Cell Differentiation andMotility.Stem Cell Reports. 2017 Jan 10;8(1):112-124. doi: 10.1016/j.stemcr.2016.11.014. Epub 2016 Dec 29.
73 Meier-Gorlin syndrome.Orphanet J Rare Dis. 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x.
74 A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation.Curr Biol. 2014 Oct 6;24(19):2327-2334. doi: 10.1016/j.cub.2014.08.029. Epub 2014 Sep 11.
75 PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.Hum Mutat. 2016 Feb;37(2):170-4. doi: 10.1002/humu.22934. Epub 2015 Dec 14.
76 PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.Life Sci Alliance. 2019 Mar 11;2(2):e201900353. doi: 10.26508/lsa.201900353. Print 2019 Apr.
77 Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.Eur J Hum Genet. 2012 Dec;20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2.
78 Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.Hum Mol Genet. 2015 Nov 15;24(22):6293-300. doi: 10.1093/hmg/ddv337. Epub 2015 Aug 24.
79 In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells.Mol Psychiatry. 2015 Apr;20(4):459-71. doi: 10.1038/mp.2014.69. Epub 2014 Jul 29.
80 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.
81 A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.Am J Med Genet A. 2018 Apr;176(4):985-991. doi: 10.1002/ajmg.a.38628. Epub 2018 Feb 12.
82 Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.Genet Med. 2017 Jun;19(6):701-710. doi: 10.1038/gim.2016.180. Epub 2016 Dec 1.
83 Inactivation of ATRX in forebrain excitatory neurons affects hippocampal synaptic plasticity.Hippocampus. 2020 Jun;30(6):565-581. doi: 10.1002/hipo.23174. Epub 2019 Nov 12.
84 A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.BMC Med Genet. 2019 Jun 7;20(1):101. doi: 10.1186/s12881-019-0803-1.
85 PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome.Eur J Med Genet. 2019 Dec;62(12):103587. doi: 10.1016/j.ejmg.2018.11.021. Epub 2018 Nov 23.
86 Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. Hum Mutat. 2017 Oct;38(10):1348-1354. doi: 10.1002/humu.23250. Epub 2017 Jun 23.
87 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.Eur J Med Genet. 2016 Oct;59(10):502-6. doi: 10.1016/j.ejmg.2016.09.008. Epub 2016 Sep 12.
88 A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.Acta Neuropathol Commun. 2018 Oct 19;6(1):109. doi: 10.1186/s40478-018-0610-5.
89 Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.Pediatr Neurol. 2017 Jun;71:24-28. doi: 10.1016/j.pediatrneurol.2017.03.019. Epub 2017 Apr 5.
90 Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.Epilepsia. 2015 Mar;56(3):422-30. doi: 10.1111/epi.12914. Epub 2015 Feb 5.
91 Primary Human Placental Trophoblasts are Permissive for Zika Virus (ZIKV) Replication.Sci Rep. 2017 Jan 27;7:41389. doi: 10.1038/srep41389.
92 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21.
93 A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.Neurol Sci. 2019 Feb;40(2):299-303. doi: 10.1007/s10072-018-3626-5. Epub 2018 Nov 3.
94 Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly.Clin Genet. 2014 May;85(5):423-32. doi: 10.1111/cge.12197. Epub 2013 Jun 18.
95 Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.Neurogenetics. 2010 May;11(2):241-9. doi: 10.1007/s10048-009-0220-2. Epub 2009 Oct 6.
96 Neural progenitor fate decision defects, cortical hypoplasia and behavioral impairment in Celsr1-deficient mice.Mol Psychiatry. 2018 Mar;23(3):723-734. doi: 10.1038/mp.2017.236. Epub 2017 Dec 19.
97 Modeling microcephaly with cerebral organoids reveals a WDR62-CEP170-KIF2A pathway promoting cilium disassembly in neural progenitors.Nat Commun. 2019 Jun 13;10(1):2612. doi: 10.1038/s41467-019-10497-2.
98 25-Hydroxycholesterol Protects Host against Zika Virus Infection and Its Associated Microcephaly in a Mouse Model.Immunity. 2017 Mar 21;46(3):446-456. doi: 10.1016/j.immuni.2017.02.012. Epub 2017 Mar 14.
99 Centrobin controls primary ciliogenesis in vertebrates.J Cell Biol. 2018 Apr 2;217(4):1205-1215. doi: 10.1083/jcb.201706095. Epub 2018 Feb 13.
100 A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.Eur J Hum Genet. 2007 Jun;15(6):638-45. doi: 10.1038/sj.ejhg.5201813. Epub 2007 Mar 14.
101 COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review.Transl Neurosci. 2017 Jul 20;8:65-69. doi: 10.1515/tnsci-2017-0011. eCollection 2017.
102 Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet. 2012 Nov 2;91(5):942-9. doi: 10.1016/j.ajhg.2012.09.016.
103 Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.Eur J Immunol. 2006 Jan;36(1):224-35. doi: 10.1002/eji.200535401.
104 Contamination Profile of DDTs in the Shark Somniosus microcephalus from Greenland Seawaters.Bull Environ Contam Toxicol. 2018 Jul;101(1):7-13. doi: 10.1007/s00128-018-2371-z. Epub 2018 May 29.
105 Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome. Hum Mutat. 2013 Jan;34(1):103-7. doi: 10.1002/humu.22226. Epub 2012 Oct 17.
106 A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.Hum Mutat. 2018 Feb;39(2):187-192. doi: 10.1002/humu.23368. Epub 2017 Nov 27.
107 The DEAH-box RNA helicase Dhr1 contains a remarkable carboxyl terminal domain essential for small ribosomal subunit biogenesis.Nucleic Acids Res. 2019 Aug 22;47(14):7548-7563. doi: 10.1093/nar/gkz529.
108 Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.Am J Med Genet A. 2019 Oct;179(10):2056-2066. doi: 10.1002/ajmg.a.61315. Epub 2019 Aug 13.
109 Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation. Eur J Med Genet. 2013 Sep;56(9):484-9. doi: 10.1016/j.ejmg.2013.06.008. Epub 2013 Jul 5.
110 Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. Am J Hum Genet. 2019 Jun 6;104(6):1073-1087. doi: 10.1016/j.ajhg.2019.04.002. Epub 2019 May 9.
111 Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.Am J Med Genet A. 2016 Mar;170(3):773-6. doi: 10.1002/ajmg.a.37501. Epub 2016 Jan 8.
112 Genomic selection identifies vertebrate transcription factor Fezf2 binding sites and target genes.J Biol Chem. 2011 May 27;286(21):18641-9. doi: 10.1074/jbc.M111.236471. Epub 2011 Apr 6.
113 Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.Gene. 2014 Apr 15;539(2):279-82. doi: 10.1016/j.gene.2014.01.070. Epub 2014 Feb 13.
114 FilaminA and Formin2 regulate skeletal, muscular, and intestinal formation through mesenchymal progenitor proliferation.PLoS One. 2017 Dec 14;12(12):e0189285. doi: 10.1371/journal.pone.0189285. eCollection 2017.
115 High-mobility group nucleosomal binding domain 2 protects against microcephaly by maintaining global chromatin accessibility during corticogenesis.J Biol Chem. 2020 Jan 10;295(2):468-480. doi: 10.1074/jbc.RA119.010616. Epub 2019 Nov 7.
116 KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.Nature. 2012 May 16;485(7398):363-7. doi: 10.1038/nature11091.
117 Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations.Pediatr Nephrol. 2018 Nov;33(11):2201-2204. doi: 10.1007/s00467-018-4060-x. Epub 2018 Aug 23.
118 LINS, a modulator of the WNT signaling pathway, is involved in human cognition. Orphanet J Rare Dis. 2013 Jun 17;8:87. doi: 10.1186/1750-1172-8-87.
119 Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.Eur J Hum Genet. 2010 Apr;18(4):436-41. doi: 10.1038/ejhg.2009.199. Epub 2009 Nov 11.
120 Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature.Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):687-690. doi: 10.1002/ajmg.b.32677. Epub 2018 Oct 22.
121 Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20.
122 Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. Am J Hum Genet. 2019 Oct 3;105(4):869-878. doi: 10.1016/j.ajhg.2019.09.007. Epub 2019 Sep 26.
123 Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.Eur J Pediatr. 2010 Apr;169(4):475-81. doi: 10.1007/s00431-009-1061-6. Epub 2009 Oct 17.
124 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 Sep;125(1-2):118-126. doi: 10.1016/j.ymgme.2018.06.006. Epub 2018 Jun 15.
125 DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.Hum Mutat. 2020 Mar;41(3):608-618. doi: 10.1002/humu.23955. Epub 2019 Nov 28.
126 Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency. Eur J Med Genet. 2013 Nov;56(11):635-41. doi: 10.1016/j.ejmg.2013.07.007. Epub 2013 Sep 4.
127 NDE1 and NDEL1 from genes to (mal)functions: parallel but distinct roles impacting on neurodevelopmental disorders and psychiatric illness.Cell Mol Life Sci. 2017 Apr;74(7):1191-1210. doi: 10.1007/s00018-016-2395-7. Epub 2016 Oct 14.
128 Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.JAMA Ophthalmol. 2014 Dec;132(12):1393-9. doi: 10.1001/jamaophthalmol.2014.2814.
129 Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities.Birth Defects Res A Clin Mol Teratol. 2015 Apr;103(4):235-42. doi: 10.1002/bdra.23321. Epub 2014 Sep 24.
130 Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.Genes Brain Behav. 2007 Aug;6(6):503-16. doi: 10.1111/j.1601-183X.2006.00277.x. Epub 2006 Nov 29.
131 A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.Gene. 2014 Mar 15;538(1):30-5. doi: 10.1016/j.gene.2014.01.027. Epub 2014 Jan 16.
132 Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. Ann Neurol. 2018 Dec;84(6):814-828. doi: 10.1002/ana.25370.
133 Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.Eur J Med Genet. 2014 Jul;57(7):334-8. doi: 10.1016/j.ejmg.2014.04.009. Epub 2014 Apr 26.
134 Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.J Hum Genet. 2014 Aug;59(8):471-4. doi: 10.1038/jhg.2014.51. Epub 2014 Jun 26.
135 PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8.
136 Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.Glycobiology. 2018 May 1;28(5):276-283. doi: 10.1093/glycob/cwy014.
137 Phenotypic and genotypic variability in Alpers syndrome. Eur J Paediatr Neurol. 2012 Jul;16(4):379-89. doi: 10.1016/j.ejpn.2011.12.006. Epub 2012 Jan 10.
138 A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.Eur J Med Genet. 2009 Mar-Jun;52(2-3):116-9. doi: 10.1016/j.ejmg.2009.01.005.
139 PTCH1 duplication in a family with microcephaly and mild developmental delay.Eur J Hum Genet. 2009 Feb;17(2):267-71. doi: 10.1038/ejhg.2008.176. Epub 2008 Oct 1.
140 RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.Eur J Paediatr Neurol. 2016 May;20(3):412-7. doi: 10.1016/j.ejpn.2016.02.012. Epub 2016 Mar 2.
141 Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.Am J Hum Genet. 2018 Aug 2;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26.
142 A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.Am J Hum Genet. 2017 Mar 2;100(3):506-522. doi: 10.1016/j.ajhg.2017.01.034.
143 Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly.Clin Chim Acta. 2019 Apr;491:15-18. doi: 10.1016/j.cca.2019.01.007. Epub 2019 Jan 10.
144 The COPII cargo adapter SEC24C is essential for neuronal homeostasis.J Clin Invest. 2018 Aug 1;128(8):3319-3332. doi: 10.1172/JCI98194. Epub 2018 Jun 25.
145 A genetic model of CEDNIK syndrome in zebrafish highlights the role of the SNARE protein Snap29 in neuromotor and epidermal development.Sci Rep. 2019 Feb 4;9(1):1211. doi: 10.1038/s41598-018-37780-4.
146 Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. J Med Genet. 2016 Mar;53(3):152-62. doi: 10.1136/jmedgenet-2015-103393. Epub 2015 Nov 5.
147 SPTAN1 encephalopathy: distinct phenotypes and genotypes.J Hum Genet. 2015 Apr;60(4):167-73. doi: 10.1038/jhg.2015.5. Epub 2015 Jan 29.
148 Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.PLoS One. 2015 Feb 6;10(2):e0117418. doi: 10.1371/journal.pone.0117418. eCollection 2015.
149 Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. Am J Hum Genet. 2017 Mar 2;100(3):555-561. doi: 10.1016/j.ajhg.2017.01.032.
150 Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.Hum Mutat. 2019 Nov;40(11):1985-1992. doi: 10.1002/humu.23844. Epub 2019 Jul 22.
151 Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017 Sep 7;101(3):428-440. doi: 10.1016/j.ajhg.2017.07.010. Epub 2017 Aug 17.
152 Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.Am J Hum Genet. 2016 Oct 6;99(4):950-961. doi: 10.1016/j.ajhg.2016.08.005. Epub 2016 Sep 22.
153 A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review.Am J Med Genet A. 2018 Aug;176(8):1768-1772. doi: 10.1002/ajmg.a.38851. Epub 2018 Jul 28.
154 Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1.Mol Genet Genomic Med. 2018 Apr 24;6(4):660-5. doi: 10.1002/mgg3.400. Online ahead of print.
155 Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.Hum Genet. 2019 Dec;138(11-12):1259-1266. doi: 10.1007/s00439-019-02065-x. Epub 2019 Sep 25.
156 Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.Eur J Paediatr Neurol. 2014 Jul;18(4):511-5. doi: 10.1016/j.ejpn.2014.01.003. Epub 2014 Feb 28.
157 Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.Eur J Hum Genet. 2018 May;26(5):695-708. doi: 10.1038/s41431-018-0098-2. Epub 2018 Feb 20.
158 Longitudinal Diffusion Tensor Imaging Revealed Nerve Fiber Alterations in Aspm Mutated Microcephaly Model Mice.Neuroscience. 2018 Feb 10;371:325-336. doi: 10.1016/j.neuroscience.2017.12.012. Epub 2017 Dec 16.
159 A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. Eur J Pediatr. 2016 Apr;175(4):517-25. doi: 10.1007/s00431-015-2661-y. Epub 2015 Nov 13.
160 BRAT1-related disease--identification of a patient without early lethality.Am J Med Genet A. 2016 Mar;170(3):699-702. doi: 10.1002/ajmg.a.37434. Epub 2015 Oct 22.
161 BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly.Proc Natl Acad Sci U S A. 2005 Oct 18;102(42):15105-9. doi: 10.1073/pnas.0507722102. Epub 2005 Oct 10.
162 Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death.Hum Mol Genet. 2019 Jun 1;28(11):1822-1836. doi: 10.1093/hmg/ddz022.
163 Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.Sci Rep. 2016 Apr 20;6:24083. doi: 10.1038/srep24083.
164 Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.Am J Hum Genet. 2019 Mar 7;104(3):520-529. doi: 10.1016/j.ajhg.2019.01.006. Epub 2019 Feb 26.
165 A new association between CDK5RAP2 microcephaly and congenital cataracts.Ann Hum Genet. 2018 May;82(3):165-170. doi: 10.1111/ahg.12232. Epub 2017 Dec 22.
166 The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6.
167 Novel CENPJ mutation causes Seckel syndrome. J Med Genet. 2010 Jun;47(6):411-4. doi: 10.1136/jmg.2009.076646.
168 CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination.Nat Commun. 2015 Jul 9;6:7676. doi: 10.1038/ncomms8676.
169 The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles.Cell Rep. 2018 Jul 24;24(4):973-986.e8. doi: 10.1016/j.celrep.2018.06.100.
170 Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24;157(3):636-50. doi: 10.1016/j.cell.2014.02.058.
171 De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.Genet Med. 2020 Apr;22(4):797-802. doi: 10.1038/s41436-019-0703-y. Epub 2019 Nov 28.
172 Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. Hum Mol Genet. 2017 Dec 15;26(24):4836-4848. doi: 10.1093/hmg/ddx362.
173 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A. 2012 Jul;158A(7):1633-40. doi: 10.1002/ajmg.a.35423. Epub 2012 Jun 7.
174 Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis.Ann Neurol. 2019 Jul;86(1):99-115. doi: 10.1002/ana.25491. Epub 2019 May 3.
175 Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 Nov 7;105(5):1005-1015. doi: 10.1016/j.ajhg.2019.09.017. Epub 2019 Oct 17.
176 Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).Clin Genet. 2017 Jun;91(6):892-901. doi: 10.1111/cge.12915. Epub 2016 Dec 16.
177 Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.Am J Med Genet A. 2016 Jun;170(6):1603-7. doi: 10.1002/ajmg.a.37624. Epub 2016 Mar 17.
178 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21.
179 Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.Clin Genet. 2009 Sep;76(3):276-81. doi: 10.1111/j.1399-0004.2009.01204.x. Epub 2009 Aug 3.
180 EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway.Hum Genomics. 2019 Dec 5;13(1):63. doi: 10.1186/s40246-019-0238-y.
181 Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.EBioMedicine. 2019 Apr;42:470-480. doi: 10.1016/j.ebiom.2019.03.013. Epub 2019 Mar 14.
182 Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254.
183 Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease. Hum Mutat. 2018 Oct;39(10):1355-1359. doi: 10.1002/humu.23595. Epub 2018 Jul 30.
184 A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy. J Neurochem. 2019 Oct;151(1):103-115. doi: 10.1111/jnc.14828. Epub 2019 Aug 22.
185 GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder. Hum Genet. 2016 Feb;135(2):245-251. doi: 10.1007/s00439-015-1632-8. Epub 2016 Jan 7.
186 Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15.
187 Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.Eur J Hum Genet. 2017 Sep;25(9):1078-1082. doi: 10.1038/ejhg.2017.97. Epub 2017 Jun 14.
188 Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.Am J Med Genet A. 2018 Feb;176(2):421-425. doi: 10.1002/ajmg.a.38558. Epub 2017 Dec 11.
189 Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10.
190 Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. Am J Hum Genet. 2016 Aug 4;99(2):414-22. doi: 10.1016/j.ajhg.2016.05.027. Epub 2016 Jul 14.
191 Interferon-inducible protein (IFI) 16 regulates Chikungunya and Zika virus infection in human skin fibroblasts.EXCLI J. 2019 Jun 27;18:467-476. doi: 10.17179/excli2019-1271. eCollection 2019.
192 Antibodies Elicited by an NS1-Based Vaccine Protect Mice against Zika Virus.mBio. 2019 Apr 2;10(2):e02861-18. doi: 10.1128/mBio.02861-18.
193 Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.Clin Genet. 2017 Jun;91(6):918-923. doi: 10.1111/cge.12931. Epub 2017 Mar 17.
194 Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics.Sci Rep. 2017 Jan 12;7:39902. doi: 10.1038/srep39902.
195 The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. Neurogenetics. 2018 Dec;19(4):215-225. doi: 10.1007/s10048-018-0555-7. Epub 2018 Jul 24.
196 Multiple Functions of KBP in Neural Development Underlie Brain Anomalies in Goldberg-Shprintzen Syndrome.Front Mol Neurosci. 2019 Nov 1;12:265. doi: 10.3389/fnmol.2019.00265. eCollection 2019.
197 Robust elimination of genome-damaged cells safeguards against brain somatic aneuploidy following Knl1 deletion.Nat Commun. 2019 Jun 13;10(1):2588. doi: 10.1038/s41467-019-10411-w.
198 Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma.Clin Immunol. 2016 Feb;163:108-10. doi: 10.1016/j.clim.2016.01.002. Epub 2016 Jan 13.
199 Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. 2018 Dec 19;100(6):1354-1368.e5. doi: 10.1016/j.neuron.2018.10.044. Epub 2018 Nov 15.
200 Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment.PLoS One. 2015 Apr 22;10(4):e0123106. doi: 10.1371/journal.pone.0123106. eCollection 2015.
201 XLF/Cernunnos: An important but puzzling participant in the nonhomologous end joining DNA repair pathway.DNA Repair (Amst). 2017 Oct;58:29-37. doi: 10.1016/j.dnarep.2017.08.003. Epub 2017 Aug 18.
202 MRI evidence of white matter damage in a mouse model of Nijmegen breakage syndrome.Exp Neurol. 2008 Jan;209(1):181-91. doi: 10.1016/j.expneurol.2007.09.021. Epub 2007 Oct 2.
203 Nosip functions during vertebrate eye and cranial cartilage development.Dev Dyn. 2018 Sep;247(9):1070-1082. doi: 10.1002/dvdy.24659. Epub 2018 Sep 9.
204 Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.Cell. 2018 May 31;173(6):1356-1369.e22. doi: 10.1016/j.cell.2018.03.051. Epub 2018 May 31.
205 Small 4p16.3 deletions: Three additional patients and review of the literature.Am J Med Genet A. 2018 Nov;176(11):2501-2508. doi: 10.1002/ajmg.a.40512. Epub 2018 Sep 23.
206 Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 Nov 7;105(5):1048-1056. doi: 10.1016/j.ajhg.2019.09.025. Epub 2019 Oct 24.
207 NUP214 deficiency causes severe encephalopathy and microcephaly in humans.Hum Genet. 2019 Mar;138(3):221-229. doi: 10.1007/s00439-019-01979-w. Epub 2019 Feb 13.
208 A critical role of Pax6 in alcohol-induced fetal microcephaly.Neurobiol Dis. 2004 Jul;16(2):370-6. doi: 10.1016/j.nbd.2004.03.004.
209 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.J Hum Genet. 2019 Feb;64(2):183-189. doi: 10.1038/s10038-018-0541-9. Epub 2018 Nov 20.
210 A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. Hum Mutat. 2018 Jun;39(6):822-826. doi: 10.1002/humu.23420. Epub 2018 Mar 30.
211 POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.Neuromuscul Disord. 2008 Jul;18(7):565-71. doi: 10.1016/j.nmd.2008.04.004. Epub 2008 Jun 2.
212 A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.Am J Med Genet A. 2019 Feb;179(2):206-218. doi: 10.1002/ajmg.a.60690. Epub 2018 Dec 17.
213 De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 2;100(2):352-363. doi: 10.1016/j.ajhg.2017.01.003. Epub 2017 Jan 26.
214 A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. Hum Genet. 2016 Jul;135(7):707-13. doi: 10.1007/s00439-016-1665-7. Epub 2016 Apr 7.
215 PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly. Hum Genet. 2019 Mar;138(3):231-239. doi: 10.1007/s00439-019-01980-3. Epub 2019 Feb 18.
216 Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb;173(2):460-470. doi: 10.1002/ajmg.a.38049. Epub 2016 Nov 11.
217 RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. Am J Med Genet A. 2015 Dec;167A(12):3148-52. doi: 10.1002/ajmg.a.37299. Epub 2015 Sep 3.
218 Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.J Neurosci. 2015 May 6;35(18):7003-18. doi: 10.1523/JNEUROSCI.0018-15.2015.
219 A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. Genetics. 2014 Oct;198(2):723-33. doi: 10.1534/genetics.114.168211.
220 Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.Eur J Med Genet. 2018 Dec;61(12):755-758. doi: 10.1016/j.ejmg.2018.08.001. Epub 2018 Aug 16.
221 Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?.Epilepsy Res. 2015 Jan;109:34-9. doi: 10.1016/j.eplepsyres.2014.10.008. Epub 2014 Oct 28.
222 A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia. J Inherit Metab Dis. 2018 Sep;41(5):897-898. doi: 10.1007/s10545-018-0151-x. Epub 2018 Feb 20.
223 Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nat Genet. 2016 Aug;48(8):877-87. doi: 10.1038/ng.3619. Epub 2016 Jul 11.
224 De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17.
225 Exosomes mediate Zika virus transmission through SMPD3 neutral Sphingomyelinase in cortical neurons.Emerg Microbes Infect. 2019;8(1):307-326. doi: 10.1080/22221751.2019.1578188.
226 Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.BMC Med Genet. 2007 Jul 26;8:48. doi: 10.1186/1471-2350-8-48.
227 Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability.Eur J Med Genet. 2015 Feb;58(2):116-21. doi: 10.1016/j.ejmg.2014.10.002. Epub 2014 Oct 24.
228 Earlyonset epilepsy and microcephalycapillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy.Mol Med Rep. 2019 Dec;20(6):5145-5151. doi: 10.3892/mmr.2019.10757. Epub 2019 Oct 17.
229 VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum Mutat. 2014 Aug;35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24.
230 Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. J Med Genet. 2008 Nov;45(11):738-44. doi: 10.1136/jmg.2008.060129. Epub 2008 Aug 26.
231 TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet. 2016 Jan;48(1):36-43. doi: 10.1038/ng.3451. Epub 2015 Nov 23.
232 The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.PLoS One. 2011;6(8):e23350. doi: 10.1371/journal.pone.0023350. Epub 2011 Aug 15.
233 Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. Eur J Med Genet. 2013 Jun;56(6):325-30. doi: 10.1016/j.ejmg.2013.03.009. Epub 2013 Apr 3.
234 Pancreatic -cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes.Nucleic Acids Res. 2018 Nov 2;46(19):10302-10318. doi: 10.1093/nar/gky839.
235 De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.BMC Med Genet. 2018 Nov 13;19(1):197. doi: 10.1186/s12881-018-0711-9.
236 Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet. 2016 Jul 7;99(1):228-35. doi: 10.1016/j.ajhg.2016.05.023.
237 tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.
238 An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy.Am J Med Genet A. 2019 Jan;179(1):94-103. doi: 10.1002/ajmg.a.60687. Epub 2018 Dec 14.
239 Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).Eur J Med Genet. 2019 Jan;62(1):44-46. doi: 10.1016/j.ejmg.2018.04.017. Epub 2018 Apr 28.
240 A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.PLoS Genet. 2019 Oct 31;15(10):e1008460. doi: 10.1371/journal.pgen.1008460. eCollection 2019 Oct.
241 TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.Eur J Med Genet. 2018 Dec;61(12):729-732. doi: 10.1016/j.ejmg.2018.05.002. Epub 2018 May 25.
242 A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies.Mol Psychiatry. 2018 Mar;23(3):713-722. doi: 10.1038/mp.2017.54. Epub 2017 Apr 4.