| CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs AC Merveille, EE Davis, A Becker-Heck, M Legendre, I Amirav, G Bataille, ... Nature genetics 43 (1), 72-78, 2011 | 366 | 2011 |
| The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation A Becker-Heck, IE Zohn, N Okabe, A Pollock, KB Lenhart, ... Nature genetics 43 (1), 79-84, 2011 | 341 | 2011 |
| Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry H Olbrich, M Schmidts, C Werner, A Onoufriadis, NT Loges, J Raidt, ... The American Journal of Human Genetics 91 (4), 672-684, 2012 | 324 | 2012 |
| Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study JK Marthin, N Petersen, LT Skovgaard, KG Nielsen American journal of respiratory and critical care medicine 181 (11), 1262-1268, 2010 | 242 | 2010 |
| CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation R Hjeij, A Onoufriadis, CM Watson, CE Slagle, NT Klena, GW Dougherty, ... The American Journal of Human Genetics 95 (3), 257-274, 2014 | 177 | 2014 |
| Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia DJ Moore, A Onoufriadis, A Shoemark, MA Simpson, PI Zur Lage, ... The American Journal of Human Genetics 93 (2), 346-356, 2013 | 176 | 2013 |
| Loss-of-function GAS8 mutations cause primary ciliary dyskinesia and disrupt the nexin-dynein regulatory complex H Olbrich, C Cremers, NT Loges, C Werner, KG Nielsen, JK Marthin, ... The American Journal of Human Genetics 97 (4), 546-554, 2015 | 136 | 2015 |
| Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia JK Marthin, KG Nielsen European Respiratory Journal 37 (3), 559-565, 2011 | 136 | 2011 |
| Immunofluorescence analysis and diagnosis of primary ciliary dyskinesia with radial spoke defects A Frommer, R Hjeij, NT Loges, C Edelbusch, C Jahnke, J Raidt, C Werner, ... American journal of respiratory cell and molecular biology 53 (4), 563-573, 2015 | 129 | 2015 |
| Ventilation inhomogeneity in children with primary ciliary dyskinesia K Green, FF Buchvald, JK Marthin, B Hanel, PM Gustafsson, KG Nielsen Thorax 67 (1), 49-53, 2012 | 115 | 2012 |
| Pulmonary radioaerosol mucociliary clearance in diagnosis of primary ciliary dyskinesia JK Marthin, J Mortensen, T Pressler, KG Nielsen Chest 132 (3), 966-976, 2007 | 94 | 2007 |
| Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia M Maglione, A Bush, KG Nielsen, C Hogg, S Montella, JK Marthin, ... Pediatric pulmonology 49 (12), 1243-1250, 2014 | 90 | 2014 |
| Hand-held tidal breathing nasal nitric oxide measurement–a promising targeted case-finding tool for the diagnosis of primary ciliary dyskinesia JK Marthin, KG Nielsen PLoS One 8 (2), e57262, 2013 | 79 | 2013 |
| SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair–associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics S Cindrić, GW Dougherty, H Olbrich, R Hjeij, NT Loges, I Amirav, ... American journal of respiratory cell and molecular biology 62 (3), 382-396, 2020 | 62 | 2020 |
| Lesions of the lacrimal drainage system: a clinicopathological study of 643 biopsy specimens of the lacrimal drainage system in Denmark 1910− 1999 JK Marthin, J Lindegaard, JU Prause, S Heegaard Acta Ophthalmologica Scandinavica 83 (1), 94-99, 2005 | 50 | 2005 |
| Infant nasal nitric oxide over time: natural evolution and impact of respiratory tract infection JK Marthin, MC Philipsen, S Rosthoj, KG Nielsen European Respiratory Journal 51 (6), 2018 | 27 | 2018 |
| Patient-specific three-dimensional explant spheroids derived from human nasal airway epithelium: a simple methodological approach for ex vivo studies of primary ciliary dyskinesia JK Marthin, EM Stevens, LA Larsen, ST Christensen, KG Nielsen Cilia 6, 1-9, 2017 | 22 | 2017 |
| Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard N Beydon, P Kouis, JK Marthin, P Latzin, M Colas, SD Davis, E Haarman, ... European Respiratory Journal 61 (4), 2023 | 19 | 2023 |
| Lung function from school age to adulthood in primary ciliary dyskinesia FS Halbeisen, ESL Pedersen, M Goutaki, BD Spycher, I Amirav, M Boon, ... European respiratory journal 60 (4), 2022 | 18 | 2022 |
| International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient … JK Marthin, JS Lucas, M Boon, C Casaulta, S Crowley, DMS Destouches, ... ERJ open research 7 (3), 2021 | 15 | 2021 |
