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Biorxiv : the Preprint Server for Biology|January 30, 2023
Contrasting patterns of somatic mutations in neurons and glia reveal differential predisposition to disease in the aging human brainJavier Ganz, Lovelace J Luquette, Sara Bizzotto, et al.Neuron|January 6, 2022
Brain ventricles as windows into brain development and diseasePhan Q Duy, Pasko Rakic, Seth L Alper, et al.American Journal of Medical Genetics. Part A|August 5, 2015
A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephalyJaime Imitola, Divya S Khurana, Nadiya M Teplyuk, et al.Clinical Genetics|April 2, 2023
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delayAlisa Mo, Emuna Paz-Ebstein, Shira Yanovsky-Dagan, et al.Biorxiv : the Preprint Server for Biology|October 17, 2024
Perinatal Reduction of Genetically Aberrant Neurons from Human Cerebral CortexDiane D Shao, Yifan Zhao, Urmi Ghosh, et al.Nature Biotechnology|January 8, 2020
Accurate detection of mosaic variants in sequencing data without matched controlsYanmei Dou, Minseok Kwon, Rachel E Rodin, et al.American Journal of Human Genetics|December 17, 2009
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephalyGaneshwaran H Mochida, Muhammad Mahajnah, Anthony D Hill, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 8, 2006
The role of RELN in lissencephaly and neuropsychiatric diseaseBernard S Chang, Fusun Duzcan, Seonhee Kim, et al.Molecular Cell|August 4, 2012
Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteinsJudy S Liu, Christian R Schubert, Xiaoqin Fu, et al.Annals of Neurology|September 22, 2020
Polymicrogyria is Associated With Pathogenic Variants in PTENDiane D Shao, Christelle M Achkar, Abbe Lai, et al.Pageof 34