| European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia JS Lucas, A Barbato, SA Collins, M Goutaki, L Behan, D Caudri, S Dell, ... European Respiratory Journal 49 (1), 2017 | 659 | 2017 |
| Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children A Barbato, T Frischer, CE Kuehni, D Snijders, I Azevedo, G Baktai, ... European Respiratory Journal 34 (6), 1264-1276, 2009 | 622 | 2009 |
| Primary ciliary dyskinesia: current state of the art A Bush, R Chodhari, N Collins, F Copeland, P Hall, J Harcourt, M Hariri, ... Archives of disease in childhood 92 (12), 1136-1140, 2007 | 437 | 2007 |
| Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities VH Castleman, L Romio, R Chodhari, RA Hirst, SCP de Castro, KA Parker, ... The American Journal of Human Genetics 84 (2), 197-209, 2009 | 369 | 2009 |
| Diagnosis and management of primary ciliary dyskinesia JS Lucas, A Burgess, HM Mitchison, E Moya, M Williamson, C Hogg Archives of disease in childhood 99 (9), 850-856, 2014 | 322 | 2014 |
| PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia L Behan, BD Dimitrov, CE Kuehni, C Hogg, M Carroll, HJ Evans, ... European respiratory journal 47 (4), 1103-1112, 2016 | 292 | 2016 |
| Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia A Onoufriadis, T Paff, D Antony, A Shoemark, D Micha, B Kuyt, ... The American Journal of Human Genetics 92 (1), 88-98, 2013 | 224 | 2013 |
| Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms D Antony, A Becker‐Heck, MA Zariwala, M Schmidts, A Onoufriadis, ... Human mutation 34 (3), 462-472, 2013 | 210 | 2013 |
| 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 | 182 | 2013 |
| De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry J Wallmeier, D Frank, A Shoemark, T Nöthe-Menchen, S Cindric, ... The American Journal of Human Genetics 105 (5), 1030-1039, 2019 | 172 | 2019 |
| Nitric oxide in primary ciliary dyskinesia WT Walker, CL Jackson, PM Lackie, C Hogg, JS Lucas European Respiratory Journal 40 (4), 1024-1032, 2012 | 163 | 2012 |
| X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 C Olcese, MP Patel, A Shoemark, S Kiviluoto, M Legendre, HJ Williams, ... Nature communications 8 (1), 14279, 2017 | 151 | 2017 |
| Accuracy of immunofluorescence in the diagnosis of primary ciliary dyskinesia A Shoemark, E Frost, M Dixon, S Ollosson, K Kilpin, M Patel, J Scully, ... American journal of respiratory and critical care medicine 196 (1), 94-101, 2017 | 121 | 2017 |
| Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial HE Kobbernagel, FF Buchvald, EG Haarman, C Casaulta, SA Collins, ... The Lancet Respiratory Medicine 8 (5), 493-505, 2020 | 113 | 2020 |
| Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversus MR Fassad, A Shoemark, M Legendre, RA Hirst, F Koll, P Le Borgne, ... The American Journal of Human Genetics 103 (6), 984-994, 2018 | 111 | 2018 |
| Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm A Onoufriadis, A Shoemark, MM Munye, CT James, M Schmidts, M Patel, ... Journal of medical genetics 51 (1), 61-67, 2014 | 109 | 2014 |
| Primary ciliary dyskinesia in the paediatric population: range and severity of radiological findings in a cohort of patients receiving tertiary care K Jain, SPG Padley, EJ Goldstraw, SJ Kidd, C Hogg, E Biggart, A Bush Clinical radiology 62 (10), 986-993, 2007 | 108 | 2007 |
| An international registry for primary ciliary dyskinesia C Werner, M Lablans, M Ataian, J Raidt, J Wallmeier, J Große-Onnebrink, ... European Respiratory Journal 47 (3), 849-859, 2016 | 104 | 2016 |
| Lung clearance index and high-resolution computed tomography scores in primary ciliary dyskinesia SJ Irving, A Ives, G Davies, J Donovan, AJ Edey, SS Gill, A Nair, ... American journal of respiratory and critical care medicine 188 (5), 545-549, 2013 | 100 | 2013 |
| Diagnosing primary ciliary dyskinesia C O’callaghan, M Chilvers, C Hogg, A Bush, J Lucas Thorax 62 (8), 656-657, 2007 | 100 | 2007 |
