John Tolmie

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 811 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Yanick J. Crow, Andrea Leitch, Bruce E. Hayward et al. · Nature Genetics · 2006 · 673 citations

Life Sciences, Genetics, Molecular Biology +11

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

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Sandra Hanks, Kim Coleman, Sarah Reid et al. · Nature Genetics · 2004 · 608 citations

Life Sciences, Genetics, Molecular Genetics +13

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 591 citations · Full text

Life Sciences, Genetics, Molecular Biology +16