Nicholas Lench

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

David P. Kelsell, John Dunlop, Howard P. Stevens et al. · Nature · 1997 · 1.5K citations

Mendelian Disorder, Developmental Biology, Genetic Disorder +2

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

Françoise Denoyelle, Dominique Weil, Marion A. Maw et al. · Human Molecular Genetics · 1997 · 635 citations · Full text

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

Philippa J. Talmud, Sonia Shah, Ros Whittall et al. · The Lancet · 2013 · 572 citations · Full text

Metabolic Syndrome, Lipid Disorder, Genetic Determinant +12

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Carmel Toomes, Jacqueline A. James, Andrew J. Wood et al. · Nature Genetics · 1999 · 489 citations · Full text

Periodontal Disease, Genetics, Pathogenesis +7

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

Xavier Estivill, Martin Farrall, Peter Scambler et al. · Nature · 1987 · 335 citations

Genetic Disorder, Medicine, Genetics +7