Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

Further case of Rubinstein-Taybi syndrome due to a deletion in EP300

(2009) Patricia Foley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome

(2009) Pei-Wen Chiang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

(2009) Ayman W. El-Hattab et al.   HUMAN GENETICS

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Complex human chromosomal and genomic rearrangements

(2009) Feng Zhang et al.   TRENDS IN GENETICS

Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype

(2008) Giuseppe Marangi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The array CGH and its clinical applications

(2008) Marwan Shinawi et al.   DRUG DISCOVERY TODAY

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

(2008) Daniela del Gaudio et al.   HUMAN MUTATION