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

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. - Abstract - Europe PMC

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. - Abstract - Europe PMC

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

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

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

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

Etiology and pathogenesis of the cohesinopathies. - Abstract - Europe PMC

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France. - Abstract - Europe PMC

Exome Sequencing: Most Up-to-Date Encyclopedia, News & Reviews

Molecular characteristics of meningiomas

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

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