| 37344571 | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | Eur J Hum Genet | 2023 |
| 32103185 | 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 | 2020 |
| 32097629 | Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. | Neuron | 2020 |
| 30214071 | Genomic and phenotypic delineation of congenital microcephaly. | Genet Med | 2019 |
| 31668703 | Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. | Am J Hum Genet | 2019 |
| 29652087 | Expanding the clinical spectrum of biallelic ZNF335 variants. | Clin Genet | 2018 |
| 30146301 | Sodium Channel SCN3A (Na<sub>V</sub>1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development. | Neuron | 2018 |
| 30421579 | PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. | Am J Med Genet B Neuropsychiatr Genet | 2018 |
| 28630177 | Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndrome. | Genome Res | 2017 |
| 28254648 | Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. | Eur J Med Genet | 2017 |
| 28190459 | Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. | Am J Hum Genet | 2017 |
| 28493438 | Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. | Hum Mutat | 2017 |
| 27830782 | Evolution of Osteocrin as an activity-regulated factor in the primate brain. | Nature | 2016 |
| 27601654 | Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. | Proc Natl Acad Sci U S A | 2016 |
| 25832664 | Loss of PCLO function underlies pontocerebellar hypoplasia type III. | Neurology | 2015 |
| 26297806 | Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. | Elife | 2015 |
| 25865492 | Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. | Am J Hum Genet | 2015 |
| 24501276 | METTL23, a transcriptional partner of GABPA, is essential for human cognition. | Hum Mol Genet | 2014 |
| 25521379 | Katanin p80 regulates human cortical development by limiting centriole and cilia number. | Neuron | 2014 |
| 25140959 | Somatic mutations in cerebral cortical malformations. | N Engl J Med | 2014 |
| 24656866 | Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. | Am J Hum Genet | 2014 |
| 23352163 | Using whole-exome sequencing to identify inherited causes of autism. | Neuron | 2013 |
| 24596948 | SLC25A22 is a novel gene for migrating partial seizures in infancy. | Ann Neurol | 2013 |
| 24078737 | Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. | Neurology | 2013 |
| 22958903 | Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. | Am J Hum Genet | 2012 |
| 23023333 | CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. | Nat Genet | 2012 |
| 21529751 | Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. | Am J Hum Genet | 2011 |
| 19751967 | The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. | Brain Dev | 2010 |
| 21109224 | A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. | Am J Hum Genet | 2010 |
| 20949537 | Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort. | Am J Med Genet A | 2010 |
| 20437587 | Developmental and degenerative features in a complicated spastic paraplegia. | Ann Neurol | 2010 |
| 18621663 | Identifying autism loci and genes by tracing recent shared ancestry. | Science | 2008 |
| 18752264 | Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. | Hum Mutat | 2008 |