Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a dis…

The Face of Chromatin Variants - ScienceDirect

PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

The Human SRCAP Chromatin Remodeling Complex Promotes DNA-End Resection - ScienceDirect

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature - ScienceDirect

PDF) Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444)

Anti-SNF2-Related -CBP-Activator Protein (SRCAP) Antibody (Affinity Purified) - Kerafast

Rare and undiagnosed diseases: From disease-causing gene identification to mechanism elucidation - ScienceDirect

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report - ScienceDirect

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures - ScienceDirect

16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems - ScienceDirect

The H2A.Z-nucleosome code in mammals: emerging functions: Trends in Genetics

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes - ScienceDirect