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| 36228617 | Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. | Dev Cell | 2022 |
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| 33531666 | A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. | Genet Med | 2021 |
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| 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 |
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| 30146301 | Sodium Channel SCN3A (Na<sub>V</sub>1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development. | Neuron | 2018 |
| 28190459 | Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. | Am J Hum Genet | 2017 |
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| 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 |
| 25865492 | Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. | Am J Hum Genet | 2015 |
| 25832664 | Loss of PCLO function underlies pontocerebellar hypoplasia type III. | Neurology | 2015 |
| 25066123 | CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. | Cell Rep | 2014 |
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| 24501276 | METTL23, a transcriptional partner of GABPA, is essential for human cognition. | Hum Mol Genet | 2014 |
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| 24656866 | Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. | Am J Hum Genet | 2014 |
| 24596948 | SLC25A22 is a novel gene for migrating partial seizures in infancy. | Ann Neurol | 2013 |
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| 23023333 | CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. | Nat Genet | 2012 |
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| 22500628 | Somatic activation of AKT3 causes hemispheric developmental brain malformations. | Neuron | 2012 |
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| 21529751 | Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. | Am J Hum Genet | 2011 |
| 20118933 | Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. | Nat Genet | 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 |
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| 19841378 | Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+. | Neurology | 2009 |
| 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 |
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| 17603806 | A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. | Am J Med Genet A | 2007 |
| 17632512 | Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. | Nat Genet | 2007 |
| 16642511 | Impaired proliferation and migration in human Miller-Dieker neural precursors. | Ann Neurol | 2006 |
| 16417552 | Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. | Epilepsia | 2006 |
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