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Cell|May 8, 2012
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplicationMegan Y Dennis, Xander Nuttle, Peter H Sudmant, et al.American Journal of Medical Genetics. Part A|November 18, 2020
The spectrum of brain malformations and disruptions in twinsKaylee B Park, Teresa Chapman, Kimberly A Aldinger, et al.American Journal of Human Genetics|July 2, 2013
Mutations in PIK3R1 cause SHORT syndromeDavid A Dyment, Amanda C Smith, Diana Alcantara, et al.European Journal of Human Genetics : EJHG|January 7, 2022
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711Jiyong Wang, Aidin Foroutan, Ellen Richardson, et al.Nature Genetics|December 5, 2006
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndromeMarco Tartaglia, Len A Pennacchio, Chen Zhao, et al.Clinical Genetics|December 31, 2020
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2Yuri A Zarate, Katherine A Bosanko, Mary Ann Thomas, et al.American Journal of Human Genetics|September 29, 2021
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomaliesGabrielle Lemire, Yoko A Ito, Aren E Marshall, et al.Frontiers in Molecular Neuroscience|March 3, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export FactorRaman Kumar, Elizabeth Palmer, Alison E Gardner, et al.American Journal of Medical Genetics. Part A|August 1, 2012
Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical regionEugen-Matthias Strehle, Linbo Yu, Jill A Rosenfeld, et al.American Journal of Human Genetics|May 31, 2016
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones SyndromeStephen R F Twigg, Robert B Hufnagel, Kerry A Miller, et al.Pageof 5