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1.
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 105(5): 1048-1056, 2019 11 07.
Article
in English
| MEDLINE | ID: mdl-31668703
2.
Evolution of Osteocrin as an activity-regulated factor in the primate brain.
Nature
; 539(7628): 242-247, 2016 11 10.
Article
in English
| MEDLINE | ID: mdl-27830782
3.
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
Am J Hum Genet
; 100(3): 537-545, 2017 Mar 02.
Article
in English
| MEDLINE | ID: mdl-28190459
4.
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Genome Res
; 27(8): 1323-1335, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28630177
5.
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
Genet Med
; 22(6): 1040-1050, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32103185
6.
Genomic and phenotypic delineation of congenital microcephaly.
Genet Med
; 21(3): 545-552, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30214071
7.
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
Proc Natl Acad Sci U S A
; 113(38): E5598-607, 2016 09 20.
Article
in English
| MEDLINE | ID: mdl-27601654
8.
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Am J Hum Genet
; 96(5): 709-19, 2015 May 07.
Article
in English
| MEDLINE | ID: mdl-25865492
9.
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.
Am J Med Genet B Neuropsychiatr Genet
; 177(8): 736-745, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30421579
10.
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
Hum Mutat
; 38(10): 1348-1354, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28493438
11.
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Am J Hum Genet
; 94(4): 547-58, 2014 Apr 03.
Article
in English
| MEDLINE | ID: mdl-24656866
12.
Somatic mutations in cerebral cortical malformations.
N Engl J Med
; 371(8): 733-43, 2014 Aug 21.
Article
in English
| MEDLINE | ID: mdl-25140959
13.
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
Hum Mol Genet
; 23(13): 3456-66, 2014 Jul 01.
Article
in English
| MEDLINE | ID: mdl-24501276
14.
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Am J Hum Genet
; 91(3): 541-7, 2012 Sep 07.
Article
in English
| MEDLINE | ID: mdl-22958903
15.
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].
Am J Hum Genet
; 88(5): 536-47, 2011 May 13.
Article
in English
| MEDLINE | ID: mdl-21529751
16.
SLC25A22 is a novel gene for migrating partial seizures in infancy.
Ann Neurol
; 74(6): 873-82, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24596948
17.
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Am J Hum Genet
; 87(6): 882-9, 2010 Dec 10.
Article
in English
| MEDLINE | ID: mdl-21109224
18.
Developmental and degenerative features in a complicated spastic paraplegia.
Ann Neurol
; 67(4): 516-25, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20437587
19.
Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.
Am J Med Genet A
; 152A(11): 2736-42, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-20949537
20.
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.
Neuron
; 106(2): 246-255.e6, 2020 04 22.
Article
in English
| MEDLINE | ID: mdl-32097629