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Neuron|March 6, 2020
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical DevelopmentAshley L Lennox, Mariah L Hoye, Ruiji Jiang, et al.American Journal of Medical Genetics. Part A|December 20, 2019
Turner syndrome in diverse populationsPaul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, et al.American Journal of Medical Genetics. Part A|July 28, 2017
Noonan syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Yonit A Addissie, et al.Nature|May 13, 2026
An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autismClarrisa A Bradley, Sangyoon Y Ko, Meng Tian, et al.American Journal of Medical Genetics. Part A|April 23, 2018
Williams-Beuren syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Deise Helena de Souza, et al.Nature Genetics|August 18, 2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autismJack M Fu, F Kyle Satterstrom, Minshi Peng, et al.Brain : a Journal of Neurology|December 14, 2019
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisChristopher C Y Mak, Dan Doherty, Angela E Lin, et al.Nature|June 10, 2010
Functional impact of global rare copy number variation in autism spectrum disordersDalila Pinto, Alistair T Pagnamenta, Lambertus Klei, et al.Pageof 8