Martine Jaspers

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 · 392 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

Julia Wallmeier, Dalal A. Al-Mutairi, Chun‐Ting Chen et al. · Nature Genetics · 2014 · 298 citations

Life Sciences, Genetics, Molecular Genetics +16

DYX1C1 is required for axonemal dynein assembly and ciliary motility

Aarti Tarkar, Niki T. Loges, Christopher E. Slagle et al. · Nature Genetics · 2013 · 291 citations

Life Sciences, Cell Biology, Molecular Genetics +7

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 · 261 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mutations in<i>CCDC</i><i>39</i>and<i>CCDC</i><i>40</i>are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

Dinu Antony, Anita Becker-Heck, Maimoona A. Zariwala et al. · Human Mutation · 2012 · 192 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15