Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. - Abstract - Europe PMC

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico. - Abstract - Europe PMC

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. - Abstract - Europe PMC

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

PDF) Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

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

Reprogramming of the epigenome in neurodevelopmental disorders. - Abstract - Europe PMC

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. - Abstract - Europe PMC

Molecular characteristics of meningiomas

Epidemiology and Etiology of Childhood ALL

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. - Abstract - Europe PMC

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. - Abstract - Europe PMC

Enhancers: bridging the gap between gene control and human disease. - Abstract - Europe PMC

Rubinstein-Taybi syndrome: MedlinePlus Genetics

Diagnostically relevant facial gestalt information from ordinary photos. - Abstract - Europe PMC