The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing

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

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

Xiaoming Liu, Xueqiu Jian, Eric Boerwinkle · Human Mutation · 2013 · 615 citations · Full text

Life Sciences, Bioinformatics, Genetics +16

DHHC9 and GCP16 Constitute a Human Protein Fatty Acyltransferase with Specificity for H- and N-Ras

John T. Swarthout, Sandra Lobo, Lynn Farh et al. · Journal of Biological Chemistry · 2005 · 366 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14

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 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 273 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17