Jackie Boyle

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 · 613 citations · Full text

Chromatin, Psychiatry, Genetic Disorder +11

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 299 citations · Full text

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 · 223 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

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 · 174 citations · Full text

Biology, Mendelian Disorder, Genetic Disorder +7

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Cheryl Shoubridge, Patrick Tarpey, Fatima Abidi et al. · Nature Genetics · 2010 · 144 citations · Full text

Intellectual Impairment, Genetic Disorder, Genetics +6