Jamel Chelly

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

Alan H. Beggs, Mary B. Moyer, S. Scherpf et al. · PubMed · 1989 · 961 citations

Medicine, Genetics, Molecular Genetics +10

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Frédéric Laumonnier, Frédérique Bonnet‐Brilhault, Marie Gomot et al. · The American Journal of Human Genetics · 2004 · 760 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick Tarpey, Raffaella Smith, Erin Pleasance et al. · Nature Genetics · 2009 · 617 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

Kerstin Kutsche, Helger G. Yntema, Alexander Brandt et al. · Nature Genetics · 2000 · 374 citations

Life Sciences, Genetics, Molecular Genetics +9

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

Patrizia D’Adamo, Andrea Menegon, Cristiana Lo Nigro et al. · Nature Genetics · 1998 · 333 citations

Life Sciences, Genetics, Molecular Genetics +6