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Proceedings of the National Academy of Sciences of the United States of America|June 12, 2020
Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brainAugust Yue Huang, Pengpeng Li, Rachel E Rodin, et al.Nature Genetics|March 20, 2019
Linked-read analysis identifies mutations in single-cell DNA-sequencing dataCraig L Bohrson, Alison R Barton, Michael A Lodato, et al.Diabetes|December 29, 2019
De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic DysfunctionElisa De Franco, Richard Caswell, Matthew B Johnson, et al.American Journal of Human Genetics|May 3, 2011
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]Fowzan S Alkuraya, Xuyu Cai, Carina Emery, et al.American Journal of Human Genetics|November 27, 2010
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataractsGaneshwaran H Mochida, Vijay S Ganesh, Jillian M Felie, et al.Annals of Neurology|January 21, 2015
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasiaAlissa M D'Gama, Ying Geng, Javier A Couto, et al.Science (New York, N.Y.)|March 27, 2004
G protein-coupled receptor-dependent development of human frontal cortexXianhua Piao, R Sean Hill, Adria Bodell, et al.American Journal of Human Genetics|October 24, 2003
Protein-truncating mutations in ASPM cause variable reduction in brain sizeJacquelyn Bond, Sheila Scott, Daniel J Hampshire, et al.Nature Neuroscience|January 12, 2021
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencingRachel E Rodin, Yanmei Dou, Minseok Kwon, et al.Brain & Development|September 16, 2009
The syndrome of perisylvian polymicrogyria with congenital arthrogryposisAnnapurna Poduri, Vida Chitsazzadeh, Stefano D'Arrigo, et al.Pageof 41