PDF) Identification of de novo EP300 and PLAU variants in a

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome - ScienceDirect

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story in Development

Cancers, Free Full-Text

The impact of rare germline variants on human somatic mutation processes

PDF) Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome

Mutations truncating the EP300 acetylase in human cancers

Cancers, Free Full-Text

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

Comparative Analysis of Drug-like EP300/CREBBP Acetyltransferase Inhibitors

Comparative Analysis of Drug-like EP300/CREBBP Acetyltransferase Inhibitors