Nicholas Lench
Amgen (United Kingdom)(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Hearing, Cochlea, Tinnitus, Genetics, Cystic Fibrosis Research Advances, Inflammatory Bowel Disease
Most-Cited Works
- → Connexin 26 mutations in hereditary non-syndromic sensorineural deafness(1997)1,468 cited
- → Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene(1997)636 cited
- → Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study(2013)576 cited
- → Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis(1999)491 cited
- → A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands(1987)335 cited
- → Extent and Distribution of Linkage Disequilibrium in Three Genomic Regions(2001)330 cited
- → Positional cloning of a novel gene influencing asthma from Chromosome 2q14