High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

PDF) Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells

Full article: Follicular lymphoma, a B cell malignancy addicted to epigenetic mutations

Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation - ScienceDirect

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children, Orphanet Journal of Rare Diseases

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch

Frontiers Genetic Predisposition to Solid Pediatric Cancers

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC