Identification of de novo EP300 and PLAU variants in a patient

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

PDF) Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

Biomolecules, Free Full-Text

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients - Coursimault - 2022 - Human Mutation - Wiley Online Library

Epigenomes, Free Full-Text

Frontiers Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research - Foreman - 2022 - Human Mutation - Wiley Online Library

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

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

Mutations truncating the EP300 acetylase in human cancers

Molecular characterization of Richter syndrome identifies de novo diffuse large B-cell lymphomas with poor prognosis

The impact of rare germline variants on human somatic mutation processes

Biomedicines, Free Full-Text

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

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