Identification of de novo EP300 and PLAU variants in a patient

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics

Identification of novel nutrient-sensitive gene regulatory networks in amniotic fluid from fetuses with spina bifida using miRNA and transcription factor network analysis

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

Base-pair level characterization of clinically-identified de novo

Genes, Free Full-Text

Rbfox2 undergoes changes in HLHS patient hearts.: (a) The effect of de

Mutations truncating the EP300 acetylase in human cancers

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome

Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants - ScienceDirect

Comparative Analysis of Drug-like EP300/CREBBP Acetyltransferase Inhibitors