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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2018
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Darrel Waggoner, Karen E Wain, Adrian M Dubuc, et al.American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.American Journal of Human Genetics|December 7, 2015
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsJason A O'Rawe, Yiyang Wu, Max J Dörfel, et al.Biological Psychiatry|August 25, 2019
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β SignalingBrett V Johnson, Raman Kumar, Sabrina Oishi, et al.Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.Pageof 2