Nicholas J. Lench

Overview

Best Publications

• Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

  Kelsell Dp;Dunlop J;Stevens Hp;Lench Nj

  1901
  Citations

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

  Françoise Denoyelle;Dominique Weil;Marion A. Maw;Stephen A. Wilcox

  844
  Citations

• 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;Marta Futema

  688
  Citations

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

  C. Toomes;J. James;A. J. Wood;Chu Lee Wu

  631
  Citations

• Positional cloning of a novel gene influencing asthma from Chromosome 2q14

  Maxine Allen;Andrea Heinzmann;Emiko Noguchi;Gonçalo Abecasis

  453
  Citations

• Extent and Distribution of Linkage Disequilibrium in Three Genomic Regions

  Gonçalo R. Abecasis;Emiko Noguchi;Andrea Heinzmann;James A. Traherne

  443
  Citations

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

  Xavier Estivill;Martin Farrall;Peter J. Scambler;Gillian M. Bell

  412
  Citations

• Simple non-invasive method to obtain DNA for gene analysis.

  Nicholas Lench;Philip Stanier;Robert Williamson

  394
  Citations

• Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors.

  David A. van Heel;Irina A. Udalova;Arjuna P. De Silva;Dermot P. McGovern

  386
  Citations

• Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

  D. A. Scott;M. L. Kraft;R. Carmi;A. Ramesh

  307
  Citations

• Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.

  Ebele Usifo;Sarah E. A. Leigh;Ros A. Whittall;Nicholas Lench

  264
  Citations

• Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

  Suzanne Drury;Hywel Williams;Natalie Trump;Christopher Boustred

  201
  Citations

• Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

  Andrew P. Jackson;Duncan P. McHale;David A. Campbell;Hussain Jafri

  197
  Citations

• Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

  Lyn S. Chitty;Lyn S. Chitty;Sarah Mason;Angela N. Barrett;Fiona McKay

  195
  Citations

• Connexin-26 mutations in sporadic non-syndromal sensorineural deafness

  Nicholas Lench;Mark Houseman;Valerie Newton;Guy Van Camp

  158
  Citations

• The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

  Nicholas Lench;Angela Barrett;Sarah Fielding;Fiona McKay

  154
  Citations

• A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment

  Tim P Hutchin;Mick J Parker;Ian D Young;Adrian C Davis

  148
  Citations

• Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1).

  Nicholas J. Lench;Gerald B. Winter

  145
  Citations

• Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

  Marta Futema;Vincent Plagnol;KaWah Li;Ros A Whittall

  145
  Citations

• A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34

  Leanne Moynihan;Andrew P. Jackson;Emma Roberts;Gulshan Karbani

  137
  Citations