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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2019
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiencyAsh Zawerton, Cyril Mignot, Ashley Sigafoos, et al.American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.Science Advances|March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, 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.The Journal of Clinical Investigation|November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresDong Li, Qin Wang, Allan Bayat, et al.Pageof 8