Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan et al. · Nature Genetics · 1999 · 5K citations

Life Sciences, Genetics, Molecular Genetics +9

A Genomic Screen of Autism: Evidence for a Multilocus Etiology

Neil Risch, Donna Spiker, Linda Lotspeich et al. · The American Journal of Human Genetics · 1999 · 695 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

Linda S. Weaving, John Christodoulou, Sarah Williamson et al. · The American Journal of Human Genetics · 2004 · 500 citations · Full text

Medicine, Genetics, Molecular Genetics +14

An update on clinically applicable diagnostic criteria in Rett syndrome

Bengt Hagberg, F. Hanefeld, Alan K. Percy et al. · European Journal of Paediatric Neurology · 2002 · 394 citations

Medicine, Neurology, Neuropathology +6

Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

Jiong Tao, Hilde Van Esch, M. Hagedorn-Greiwe et al. · The American Journal of Human Genetics · 2004 · 323 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16