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…

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

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder - ScienceDirect

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios - ScienceDirect

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

Renal Calculus in Floating–Harbor Syndrome: A Case Report - ScienceDirect

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

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect

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

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

Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome - ScienceDirect

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