| Connexin 26 mutations in hereditary non-syndromic sensorineural deafness DP Kelsell, J Dunlop, HP Stevens, NJ Lench, JN Liang, G Parry, ... Nature 387 (6628), 80-83, 1997 | 1945 | 1997 |
| Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene F Denoyelle, D Weil, MA Maw, SA Wilcox, NJ Lench, DR Allen-Powell, ... Human molecular genetics 6 (12), 2173-2177, 1997 | 842 | 1997 |
| Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study PJ Talmud, S Shah, R Whittall, M Futema, P Howard, JA Cooper, ... The Lancet 381 (9874), 1293-1301, 2013 | 652 | 2013 |
| Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis C Toomes, J James, AJ Wood, CL Wu, D McCormick, N Lench, C Hewitt, ... Nature genetics 23 (4), 421-424, 1999 | 649 | 1999 |
| Positional cloning of a novel gene influencing asthma from chromosome 2q14 M Allen, A Heinzmann, E Noguchi, G Abecasis, J Broxholme, CP Ponting, ... Nature genetics 35 (3), 258-263, 2003 | 473 | 2003 |
| Extent and distribution of linkage disequilibrium in three genomic regions GR Abecasis, E Noguchi, A Heinzmann, JA Traherne, S Bhattacharyya, ... The American Journal of Human Genetics 68 (1), 191-197, 2001 | 456 | 2001 |
| A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands X Estivill, M Farrall, PJ Scambler, GM Bell, KMF Hawley, NJ Lench, ... Nature 326 (6116), 840-845, 1987 | 411 | 1987 |
| Simple non-invasive method to obtain DNA for gene analysis N Lench, P Stanier, R Williamson The Lancet 331 (8599), 1356-1358, 1988 | 388 | 1988 |
| Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-κB transcription factors DA Van Heel, IA Udalova, AP De Silva, DP McGovern, Y Kinouchi, J Hull, ... Human molecular genetics 11 (11), 1281-1289, 2002 | 380 | 2002 |
| Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss DA Scott, ML Kraft, R Carmi, A Ramesh, K Elbedour, Y Yairi, ... Human mutation 11 (5), 387-394, 1998 | 303 | 1998 |
| Low‐density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment E Usifo, SEA Leigh, RA Whittall, N Lench, A Taylor, C Yeats, CA Orengo, ... Annals of human genetics 76 (5), 387-401, 2012 | 276 | 2012 |
| Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities S Drury, H Williams, N Trump, C Boustred, GOSGene, N Lench, RH Scott, ... Prenatal diagnosis 35 (10), 1010-1017, 2015 | 211 | 2015 |
| Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter AP Jackson, DP McHale, DA Campbell, H Jafri, Y Rashid, J Mannan, ... The American Journal of Human Genetics 63 (2), 541-546, 1998 | 205 | 1998 |
| Non‐invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next‐generation sequencing allows for a safer, more accurate, and comprehensive approach LS Chitty, S Mason, AN Barrett, F McKay, N Lench, R Daley, LA Jenkins Prenatal Diagnosis 35 (7), 656-662, 2015 | 198 | 2015 |
| The clinical implementation of non‐invasive prenatal diagnosis for single‐gene disorders: challenges and progress made N Lench, A Barrett, S Fielding, F McKay, M Hill, L Jenkins, H White, ... Prenatal diagnosis 33 (6), 555-562, 2013 | 163 | 2013 |
| Connexin-26 mutations in sporadic non-syndromal sensorineural deafness N Lench, M Houseman, V Newton, G Van Camp, R Mueller The Lancet 351 (9100), 415, 1998 | 161 | 1998 |
| A novel mutation in the mitochondrial tRNASer (UCN) gene in a family with non-syndromic sensorineural hearing impairment TP Hutchin, MJ Parker, ID Young, AC Davis, LJ Pulleyn, J Deeble, ... Journal of medical genetics 37 (9), 692-694, 2000 | 151 | 2000 |
| Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations M Futema, V Plagnol, KW Li, RA Whittall, HAW Neil, M Seed, S Bertolini, ... Journal of medical genetics 51 (8), 537-544, 2014 | 150 | 2014 |
| Characterisation of molecular defects in X‐linked amelogenesis imperfecta (AIH1) NJ Lench, GB Winter Human mutation 5 (3), 251-259, 1995 | 144 | 1995 |
| Gap junctions and connexin expression in the inner ear A Forge, D Becker, S Casalotti, J Edwards, WH Evans, N Lench, M Souter Novartis Foundation Symposium 219‐Gap Junction‐Mediated Intercellular …, 2007 | 141 | 2007 |
