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Genetics of Human Developmental Brain Disorders

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Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Richard S. Smith, Connor J Kenny, V. Ganesh, et al. (2018). Neuron. Cited 124 times. https://doi.org/10.1016/j.neuron.2018.07.052

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

L. B. Hills, A. Masri, K. Konno, et al. (2013). Neurology. Cited 93 times. https://doi.org/10.1212/WNL.0b013e3182a841a3

Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

W. Hu, Oz Pomp, T. Ben-Omran, et al. (2014). Neuron. Cited 87 times. https://doi.org/10.1016/j.neuron.2014.12.017

Disorders of Microtubule Function in Neurons: Imaging Correlates

C. Mutch, A. Poduri, M. Sahin, et al. (2016). American Journal of Neuroradiology. Cited 60 times. https://doi.org/10.3174/ajnr.A4552

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

S. Khoshkhoo, Yilan Wang, Y. Chahine, et al. (2023). JAMA Neurology. Cited 50 times. https://doi.org/10.1001/jamaneurol.2023.0473

Novel loss‐of‐function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

A. Al-Maawali, B. Barry, A. Rajab, et al. (2016). American Journal of Medical Genetics Part A. Cited 46 times. https://doi.org/10.1002/ajmg.a.37422

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

Gilad D. Evrony, Gilad D. Evrony, Gilad D. Evrony, et al. (2017). Genome Research. Cited 38 times. https://doi.org/10.1101/gr.219899.116