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De novo variants in ATP2B1 lead to neurodevelopmental delay
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
