Uma Mallya

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 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

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

Patrick Tarpey, Shery Thomas, Nagini Sarvananthan et al. · Nature Genetics · 2006 · 215 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation

Patrick Tarpey, Josep Parnau, Matthew J. Blow et al. · The American Journal of Human Genetics · 2004 · 176 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

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

F. Lucy Raymond, Patrick Tarpey, Sarah Edkins et al. · The American Journal of Human Genetics · 2007 · 175 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6