Identification of de novo EP300 and PLAU variants in a patient

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Identification of USP9X as a leukemia susceptibility gene - ScienceDirect

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Human genetics and molecular genomics of Chiari malformation type 1: Trends in Molecular Medicine

Mutations truncating the EP300 acetylase in human cancers

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

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

Schematic representation (not in scale) of the CBP (A) and p300 (B)

About - DECIPHER v11.23

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

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

Exome sequencing study of 20 patients with high myopia [PeerJ]

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