Harry Cuppens

Overview

Best Publications

• 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

• Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

  Harry Cuppens;Wei Lin;Martine Jaspers;B Costes

  555
  Citations

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

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

  459
  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

• MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

  Mieke Boon;Julia Wallmeier;Lina Ma;Niki Tomas Loges

  254
  Citations

• European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations.

  C Koch;Harry Cuppens;M Rainisio;U Madessani

  248
  Citations

• Rapid DNA typing of class II HLA antigens using the polymerase chain reaction and reverse dot blot hybridization

  I. Buyse;R. Decorte;M. Baens;H. Cuppens

  235
  Citations

• The relative frequency of CFTR mutation classes in European patients with cystic fibrosis

  K. De Boeck;A. Zolin;H. Cuppens;H.V. Olesen

  233
  Citations

• The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions

  Anne Vankeerberghen;Harry Cuppens;Jean Jacques Cassiman

  223
  Citations

• Gradient of distribution in Europe of the major CF mutation and of its associated haplotype

  Harry Cuppens

  167
  Citations

• Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

  T. Dörk;M. Macek;F. Mekus;B. Tümmler

  165
  Citations

• Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

  Mieke Boon;Anne Smits;Harry Cuppens;Martine Jaspers

  158
  Citations

• CFTR mutations and polymorphisms in male infertility.

  Harry Cuppens;Jean-Jacques Cassiman

  152
  Citations

• New clinical diagnostic procedures for cystic fibrosis in Europe

  K. De Boeck;N. Derichs;I. Fajac;H.R. de Jonge

  143
  Citations

• Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

  Claude Férec;Teresa Casals;Nadia Chuzhanova;Milan Macek

  130
  Citations

• Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association

  Gert Jan Vanaken;Laurence Bassinet;Mieke Boon;Rahma Mani

  128
  Citations

• Rapid detection of hypervariable regions by the polymerase chain reaction technique.

  Ronny Decorte;Harry Cuppens;Peter Marynen;Jean-Jacques Cassiman

  119
  Citations

• Increased Proportion of Exon 9 Alternatively Spliced CFTR Transcripts in vas Deferens Compared with Nasal Epithelial Cells

  H Teng;M Jorissen;H Van Poppel;E Legius

  116
  Citations

• The Interlaboratory RObustness of Next-generation sequencing (IRON) study: a deep sequencing investigation of TET2 , CBL and KRAS mutations by an international consortium involving 10 laboratories

  A. Kohlmann;H.U. Klein;S. Weissmann;S. Bresolin

  107
  Citations

• The molecular genetic epidemiology of cystic fibrosis: Report of a joint meeting of WHO/ECFTN/ICF(M)A/ECFS

  Harry Cuppens;Boulyjenkov;f Calafell;JJ Cassiman

  87
  Citations