M. W. Partington

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

PAK3 mutation in nonsyndromic X-linked mental retardation

Kristina M. Allen, Joseph G. Gleeson, Shubha Bagrodia et al. · Nature Genetics · 1998 · 470 citations

Life Sciences, Genetics, Molecular Genetics +13

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Petter Strømme, Marie Mangelsdorf, Marie Shaw et al. · Nature Genetics · 2002 · 432 citations

Life Sciences, Genetics, Molecular Genetics +14

Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

Patrick Tarpey, F. Lucy Raymond, Sarah O’Meara et al. · The American Journal of Human Genetics · 2007 · 228 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Guy Froyen, Mark Corbett, Joke Vandewalle et al. · The American Journal of Human Genetics · 2008 · 220 citations · Full text

Life Sciences, Genetics, Molecular Biology +15