High frequency of copy number imbalances in Rubinstein–Taybi

Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review, Orphanet Journal of Rare Diseases

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

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report - ScienceDirect

Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans - ScienceDirect

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization, BMC Genomics

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

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

PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

Genes, Free Full-Text