Identification of de novo EP300 and PLAU variants in a patient

Biomedicines, Free Full-Text

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 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

Biomolecules, Free Full-Text

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

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Fusion gene map of acute leukemia revealed by transcriptome sequencing of a consecutive cohort of 1000 cases in a single center

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

Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap cornelia de lange syndrome - Woods - 2014 - American Journal of Medical Genetics Part A - Wiley Online Library

Frontiers The role of noncoding genetic variants in cardiomyopathy