High frequency of copy number imbalances in Rubinstein–Taybi

Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review, Orphanet Journal of Rare Diseases

The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future - Shaffer - 2007 - American Journal of Medical Genetics Part C: Seminars

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

Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities - Stefano Gambardella, Erika Ciabattoni, Francesca Motta, Giusy Stoico, Francesca Gullotta, Michela Biancolella, Anna Maria

PDF) Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene

Frontiers Genetic Predisposition to Solid Pediatric Cancers

CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens

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

Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization, BMC Genomics