Mieke Boon

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 · 291 citations

Multiple Motile Cilia, Developmental Biology, Genetic Disorder +4

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

International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria)

Amelia Shoemark, Mieke Boon, Christoph Brochhausen et al. · European Respiratory Journal · 2020 · 143 citations · Full text

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

Adrien Frommer, Rim Hjeij, Niki T. Loges et al. · American Journal of Respiratory Cell and Molecular Biology · 2015 · 129 citations · Full text

Genetics, Diagnosis, Pathology +17

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

Mieke Boon, Anne Smits, Harry Cuppens et al. · Orphanet Journal of Rare Diseases · 2014 · 127 citations · Full text