Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Stéphane Jamain, Hélène Quach, Catalina Betancur et al. · Nature Genetics · 2003 · 1.8K citations · Full text

Life Sciences, Genetics, Neuroscience +13

Revised diagnostic criteria for the Marfan syndrome

Anne De Paepe, Richard B. Devereux, Harry C. Dietz et al. · American Journal of Medical Genetics · 1996 · 1.6K citations

Life Sciences, Genetics, Human Genetics +9

doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein

Joseph G. Gleeson, Kristina M. Allen, Jeremy W. Fox et al. · Cell · 1998 · 1.1K citations · Full text

Medicine, Genetics, Molecular Genetics +13

An Acylation Cycle Regulates Localization and Activity of Palmitoylated Ras Isoforms

Oliver Rocks, Anna Peyker, Martin Kahms et al. · Science · 2005 · 853 citations

Life Sciences, Cell Biology, Molecular Biology +17

Germline KRAS mutations cause Noonan syndrome

Suzanne Schubbert, Martin Zenker, Sara L. Rowe et al. · Nature Genetics · 2006 · 740 citations

Life Sciences, Genetics, Molecular Genetics +9