Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect
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Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a dis…
16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems - ScienceDirect
Generation of two iPSC lines (MHHi001-A-12 and MHHi001-A-13) carrying biallelic truncating mutations at the 3′-end of SRCAP using CRISPR/Cas9 - ScienceDirect
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder - ScienceDirect
SRCAP - an overview ScienceDirect Topics
H2A.Z's 'social' network: functional partners of an enigmatic histone variant: Trends in Biochemical Sciences
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes - ScienceDirect
The Human SRCAP Chromatin Remodeling Complex Promotes DNA-End Resection - ScienceDirect
Generation of two iPSC lines (MHHi001-A-12 and MHHi001-A-13) carrying biallelic truncating mutations at the 3′-end of SRCAP using CRISPR/Cas9 - ScienceDirect
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes - ScienceDirect
Mutations in PIK3R1 Cause SHORT Syndrome - ScienceDirect
Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome - ScienceDirect
Rare and undiagnosed diseases: From disease-causing gene identification to mechanism elucidation - ScienceDirect
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures - ScienceDirect
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