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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.
Science Translational Medicine|October 12, 2012
Neural stem cell engraftment and myelination in the human brainNalin Gupta, Roland G Henry, Jonathan Strober, et al.
Brain & Development|September 16, 2009
The syndrome of perisylvian polymicrogyria with congenital arthrogryposisAnnapurna Poduri, Vida Chitsazzadeh, Stefano D'Arrigo, et al.
Nature Genetics|October 5, 2010
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architectureTimothy W Yu, Ganeshwaran H Mochida, David J Tischfield, et al.
Cell Reports|December 28, 2017
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical DysplasiasAlissa M D'Gama, Mollie B Woodworth, Amer A Hossain, et al.
Radiology|September 5, 2018
Abnormal Morphology of Select Cortical and Subcortical Regions in Neurofibromatosis Type 1Matthew J Barkovich, Chin Hong Tan, Ryan M Nillo, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 14, 2018
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic featuresRaida Khalil, Connor Kenny, R Sean Hill, et al.
Nature Genetics|February 2, 2010
Mutations in PNKP cause microcephaly, seizures and defects in DNA repairJun Shen, Edward C Gilmore, Christine A Marshall, et al.
Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
American Journal of Human Genetics|December 17, 2009
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardationAsif Mir, Liana Kaufman, Abdul Noor, et al.
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