Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader–Willi like features and hypotonia

A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

Jennifer A. Lee, Claudia M.B. Carvalho, James R. Lupski · Cell · 2007 · 902 citations · Full text

Genome Instability, Nonrecurrent Rearrangements, Genomic Disorders +10

A novel X-linked gene, G4.5. is responsible for Barth syndrome

Silvia Bione, Patrizia D’Adamo, Elena Maestrini et al. · Nature Genetics · 1996 · 748 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Hilde Van Esch, Marijke Bauters, Jaakko Ignatius et al. · The American Journal of Human Genetics · 2005 · 623 citations · Full text

Severe Mental Retardation, Mendelian Disorder, Psychiatry +12

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Björn Menten · Journal of Medical Genetics · 2006 · 416 citations · Full text

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Daniela del Gaudio, Ping Fang, Fernando Scaglia et al. · Genetics in Medicine · 2006 · 269 citations · Full text

Developmental Biology, Brain Development, Developmental Genetics +7