Ken McElreavey

Research.com Recognitions

• 2024 - Research.com Genetics in France Leader Award

Overview

Best Publications

• Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

  Colin N A Palmer;Alan D Irvine;Ana Terron-Kwiatkowski;Yiwei Zhao

  3698
  Citations

• Donor splice-site mutations in WT1 are responsible for Frasier syndrome.

  Sandrine Barbaux;Patrick Niaudet;Marie-Claire Gubler;Jean-Pierre Grünfeld

  983
  Citations

• Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language

  Zoë H. Rosser;Tatiana Zerjal;Matthew E. Hurles;Maarja Adojaan

  763
  Citations

• Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa.

  Lluís Quintana-Murci;Lluís Quintana-Murci;Ornella Semino;Hans-J. Bandelt;Giuseppe Passarino;Giuseppe Passarino

  651
  Citations

• Where West Meets East: The Complex mtDNA Landscape of the Southwest and Central Asian Corridor

  Lluís Quintana-Murci;Lluís Quintana-Murci;Raphaëlle Chaix;R. Spencer Wells;Doron M. Behar

  529
  Citations

• A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development.

  Ken McElreavey;Eric Vilain;Nacer Abbas;Ira Herskowitz

  451
  Citations

• Mutations in NALP12 cause hereditary periodic fever syndromes

  I. Jéru;P. Duquesnoy;T. Fernandes-Alnemri;E. Cochet

  412
  Citations

• Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis?

  Csilla Krausz;Lluis Quintana-Murci;Ken McElreavey

  398
  Citations

• SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development

  N.A Hanley;D.M Hagan;M Clement-Jones;S.G Ball

  356
  Citations

• The Y chromosome and male fertility and infertility

  Csilla Gabriella Krausz;Gianni Forti;K. Mcelreavey

  284
  Citations

• Promoter Variation in the DC-SIGN–Encoding Gene CD209 Is Associated with Tuberculosis

  Luis B Barreiro;Olivier Neyrolles;Chantal L Babb;Ludovic Tailleux

  282
  Citations

• Mutations of the GREAT gene cause cryptorchidism

  Ivan P. Gorlov;Aparna A. Kamat;Natalia V. Bogatcheva;Eric Jones

  275
  Citations

• Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

  Anu Bashamboo;Bruno Ferraz-de-Souza;Diana Lourenço;Lin Lin

  254
  Citations

• Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility

  N Machev;N Saut;G Longepied;P Terriou

  202
  Citations

• Y-Chromosome Lineages Trace Diffusion of People and Languages in Southwestern Asia

  Lluís Quintana-Murci;Csilla Krausz;Tatiana Zerjal;S.Hamid Sayar

  199
  Citations

• Sex chromosome mosaicism in males carrying Y chromosome long arm deletions

  Jean Pierre Siffroi;Corine Le Bourhis;Csilla Krausz;Sandrine Barbaux

  190
  Citations

• Mutations in PLK4 , encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

  Carol Anne Martin;Ilyas Ahmad;Ilyas Ahmad;Anna Klingseisen;Muhammad Sajid Hussain

  188
  Citations

• Loss-of-function mutation in GATA4 causes anomalies of human testicular development

  Diana Lourenço;Raja Brauner;Magda Rybczyńska;Claire Nihoul-Fékété

  183
  Citations

• Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism.

  Matthew E. Hurles;Reiner Veitia;Eduardo Arroyo;Manuel Armenteros

  166
  Citations

• Effects of transmission of Y chromosome AZFc deletions

  Philippos C Patsalis;Carolina Sismani;Lluis Quintana-Murci

  153
  Citations