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

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

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

Molecular characteristics of meningiomas

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

CBP Is Required for Establishing Adaptive Gene Programs in the Adult Mouse Brain. - Abstract - Europe PMC

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

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

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

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. - Abstract - Europe PMC