Harry Cuppens
Publications by Year
Research Areas
Cystic Fibrosis Research Advances, Neonatal Respiratory Health Research, Tracheal and airway disorders, Ion channel regulation and function, Congenital Ear and Nasal Anomalies
Most-Cited Works
- → Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice(2008)590 cited
- → Recommendations for the classification of diseases as CFTR-related disorders(2011)417 cited
- → 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.(1998)392 cited
- → MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia(2014)257 cited
- → Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations(2008)241 cited
- → The relative frequency of CFTR mutation classes in European patients with cystic fibrosis(2014)222 cited
- → Rapid DNA typing of class II HLA antigens using the polymerase chain reaction and reverse dot blot hybridization(1993)196 cited
- → The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions(2002)180 cited
- → Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association(2017)140 cited
- → Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure(2014)129 cited