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Scientific Reports|January 21, 2018
Abnormal Speech Motor Control in Individuals with 16p11.2 DeletionsCarly Demopoulos, Hardik Kothare, Danielle Mizuiri, et al.Journal of Medical Genetics|January 12, 2020
De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalitiesRoya Bina, Dena Matalon, Brieana Fregeau, et al.Annals of Clinical and Translational Neurology|July 1, 2015
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophySahar Esmaeeli Nieh, Maura R Z Madou, Minhajuddin Sirajuddin, et al.American Journal of Human Genetics|April 19, 2016
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 DeletionsBrieana Fregeau, Bum Jun Kim, Andrés Hernández-García, et al.Human Mutation|January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variantsValerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Genomic and phenotypic delineation of congenital microcephalyRanad Shaheen, Sateesh Maddirevula, Nour Ewida, et al.American Journal of Human Genetics|November 3, 2018
NFIB Haploinsufficiency Is Associated with Intellectual Disability and MacrocephalyIna Schanze, Jens Bunt, Jonathan W C Lim, et al.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.Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.Pageof 1