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

Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing - ScienceDirect

The missing link between genetic association and regulatory function

Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting - Schildt - American Journal of Medical Genetics Part A - Wiley Online Library

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

Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy - Peng - Molecular Genetics & Genomic Medicine - Wiley Online Library

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature

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

PDF) Rubinstein-Taybi syndrome in diverse populations

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

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

The missing link between genetic association and regulatory function

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

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition - Musante - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library