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

Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases

Identifying collagen VI as a target of fibrotic diseases regulated by CREBBP/EP300

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

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability - ScienceDirect

Epigenetic mechanisms to propagate histone acetylation by p300/CBP

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

PDF) Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients

PDF) Variant biomarker discovery using mass spectrometry-based proteogenomics

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

PDF) Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients

CIMB, Free Full-Text

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