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 | 542 | 2017 |
Aetiology in adult patients with bronchiectasis A Shoemark, L Ozerovitch, R Wilson Respiratory medicine 101 (6), 1163-1170, 2007 | 354 | 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 | 347 | 2009 |
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 | 310 | 2012 |
Impaired innate interferon induction in severe therapy resistant atopic asthmatic children MR Edwards, N Regamey, M Vareille, E Kieninger, A Gupta, A Shoemark, ... Mucosal immunology 6 (4), 797-806, 2013 | 229 | 2013 |
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 | 200 | 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 BeckerHeck, MA Zariwala, M Schmidts, A Onoufriadis, ... Human mutation 34 (3), 462-472, 2013 | 193 | 2013 |
Primary ciliary dyskinesia in the genomics age JS Lucas, SD Davis, H Omran, A Shoemark The Lancet Respiratory Medicine 8 (2), 202-216, 2020 | 186 | 2020 |
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 | 171 | 2013 |
Sperm defects in primary ciliary dyskinesia and related causes of male infertility A Sironen, A Shoemark, M Patel, MR Loebinger, HM Mitchison Cellular and Molecular Life Sciences 77, 2029-2048, 2020 | 147 | 2020 |
Pseudomonas aeruginosa, cyanide accumulation and lung function in CF and non-CF bronchiectasis patients B Ryall, JC Davies, R Wilson, A Shoemark, HD Williams European Respiratory Journal 32 (3), 740-747, 2008 | 138 | 2008 |
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 | 133 | 2017 |
Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia A Shoemark, M Dixon, B Corrin, A Dewar Journal of clinical pathology 65 (3), 267-271, 2012 | 125 | 2012 |
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 | 120 | 2019 |
HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus CP Diggle, DJ Moore, G Mali, P Zur Lage, A Ait-Lounis, M Schmidts, ... PLoS genetics 10 (9), e1004577, 2014 | 120 | 2014 |
Assessment of F/HN-Pseudotyped Lentivirus as a Clinically Relevant Vector for Lung Gene Therapy U Griesenbach, M Inoue, C Meng, R Farley, M Chan, NK Newman, ... American Journal of Respiratory and Critical Care Medicine, 2012 | 111 | 2012 |
A longitudinal study characterising a large adult primary ciliary dyskinesia population A Shah, A Shoemark, SJ MacNeill, B Bhaludin, A Rogers, D Bilton, ... European Respiratory Journal 48 (2), 441-450, 2016 | 108 | 2016 |
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 | 107 | 2017 |
Increased nuclear suppressor of cytokine signaling 1 in asthmatic bronchial epithelium suppresses rhinovirus induction of innate interferons V Gielen, A Sykes, J Zhu, B Chan, J Macintyre, N Regamey, E Kieninger, ... Journal of allergy and clinical immunology 136 (1), 177-188. e11, 2015 | 100 | 2015 |
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 | 100 | 2014 |