Harry Cuppens

Recommendations for the classification of diseases as CFTR-related disorders

Cristina Bombieri, Mireille Claustres, K. De Boeck et al. · Journal of Cystic Fibrosis · 2011 · 413 citations · Full text

Medicine, Chronic Disease, Diagnosis +5

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, Wen‐chang Lin, Martine Jaspers et al. · Journal of Clinical Investigation · 1998 · 391 citations · Full text

Engineering, Genetics, Human Polymorphism +20

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

Mieke Boon, Julia Wallmeier, Lina Ma et al. · Nature Communications · 2014 · 256 citations · Full text

Multiple Motile Cilia, Mendelian Disorder, Genetic Disorder +9

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

Manfred Stuhrmann, Michael A. Morris, Teresa Casals et al. · European Journal of Human Genetics · 2008 · 241 citations · Full text

Genetic Diseases, Medicine, Genetics +8

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

K. De Boeck, Anna Zolin, Harry Cuppens et al. · Journal of Cystic Fibrosis · 2014 · 217 citations

Fibrosis, Mendelian Disorder, Genetic Disorder +9