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

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

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

PDF) Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: Two UK patients

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

Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect

PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

PDF) New dysmorphic features in Rubinstein-Taybi syndrome

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy

Individual functions of the histone acetyl transferases CBP and p300 in regulating the inflammatory response of synovial fibroblasts - ScienceDirect

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein- Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect

Microdeletions and mutations of CREBBP (CBP) gene can cause

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