High frequency of copy number imbalances in Rubinstein–Taybi

PDF) Rubinstein-Taybi syndrome in diverse populations

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome - Genetics in Medicine

PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

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

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

Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans - ScienceDirect

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PDF) Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome

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