Mireille Claustres

Overview

Best Publications

• Human Splicing Finder: an online bioinformatics tool to predict splicing signals

  François Olivier Desmet;Dalil Hamroun;Marine Lalande;Gwenaëlle Collod-Bëroud

  2732
  Citations

• Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

  Miguel Chillón;Teresa Casals;Bernard Mercier;Lluís Bassas

  1099
  Citations

• Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

  C. Castellani;H. Cuppens;M. Macek;J. J. Cassiman

  822
  Citations

• Heterozygous TGFBR2 mutations in Marfan syndrome

  Takeshi Mizuguchi;Gwenaëlle Collod-Beroud;Takushi Akiyama;Marianne Abifadel

  766
  Citations

• Mutations in RPE65 cause Leber's congenital amaurosis

  Marlhens F;Bareil C;Griffoin Jm;Zrenner E

  694
  Citations

• Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes

  J. Claiborne Stephens;David E. Reich;David B. Goldstein;Hyoung Doo Shin

  686
  Citations

• Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations : An international study

  L. Faivre;G. Collod-Beroud;G. Collod-Beroud;B.L. Loeys;A. Child

  617
  Citations

• Recommendations for the classification of diseases as CFTR-related disorders

  Cristina Bombieri;M Claustres;K De Boeck;N Derichs

  459
  Citations

• The origin of the major cystic fibrosis mutation (ΔF508) in European populations

  N. Morral;J. Bertranpetit;X. Estivill;V. Nunes

  444
  Citations

• Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results

  Philippe Coubes;Laura Cif;Hassan El Fertit;Simone Hemm

  427
  Citations

• Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

  Sylvie Tuffery-Giraud;Sylvie Tuffery-Giraud;Christophe Béroud;Christophe Béroud;Rabah Ben Yaou;Rabah Ben Yaou

  386
  Citations

• The Δccr5 Mutation Conferring Protection Against HIV-1 in Caucasian Populations Has a Single and Recent Origin in Northeastern Europe

  Frédérick Libert;Pascale Cochaux;Gunhild Beckman;Michel Samson

  380
  Citations

• Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

  Elisabeth Dequeker;Manfred Stuhrmann;Michael A Morris;Teresa Casals

  315
  Citations

• Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

  David Attias;Chantal Stheneur;Carine Roy;Gwenaëlle Collod-Béroud

  297
  Citations

• Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

  Joshua D. Groman;Timothy W. Hefferon;Teresa Casals;Lluís Bassas

  289
  Citations

• Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

  Mireille Claustres;Caroline Guittard;Dominique Bozon;Françoise Chevalier

  289
  Citations

• Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA Haplogroup H in Eurasia

  Eva Liis Loogväli;Urmas Roostalu;Boris A. Malyarchuk;Miroslava V. Derenko

  265
  Citations

• PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

  Inga Ebermann;Jennifer B. Phillips;Max C. Liebau;Robert K. Koenekoop

  261
  Citations

• Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.

  Christophe Béroud;Sylvie Tuffery-Giraud;Masafumi Matsuo;Dalil Hamroun

  241
  Citations

• A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

  Nathalie Pallares-Ruiz;Patricia Blanchet;Michel Mondain;Mireille Claustres

  206
  Citations