Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

The missing link between genetic association and regulatory function

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome - Sheppard - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

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

PDF) Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes

IJMS, Free Full-Text

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

PDF) Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study - Zhai - 2021 - Human Mutation - Wiley Online Library

The social phenotype associated with Wiedemann‐Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality - Ng - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library

Comparative genomics provides new insights into the remarkable adaptations of the African wild dog (Lycaon pictus)

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder