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Amelia Shoemark
Amelia Shoemark
Asthma and Lung UK/GSK Chair of Respiratory Research, University of Dundee and Royal Brompton
Geverifieerd e-mailadres voor rbht.nhs.uk
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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
6112017
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
3632009
Aetiology in adult patients with bronchiectasis
A Shoemark, L Ozerovitch, R Wilson
Respiratory medicine 101 (6), 1163-1170, 2007
3632007
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
3232012
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
2292013
Primary ciliary dyskinesia in the genomics age
JS Lucas, SD Davis, H Omran, A Shoemark
The Lancet Respiratory Medicine 8 (2), 202-216, 2020
2182020
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
2062013
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
2012013
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
1762013
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
1742020
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
1452008
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
1432017
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
1412019
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
1282012
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
1222014
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
1192016
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
1172012
Neutrophil extracellular traps, disease severity, and antibiotic response in bronchiectasis: an international, observational, multicohort study
HR Keir, A Shoemark, AJ Dicker, L Perea, J Pollock, YH Giam, ...
The lancet Respiratory medicine 9 (8), 873-884, 2021
1132021
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
1112017
International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria)
A Shoemark, M Boon, C Brochhausen, Z Bukowy-Bieryllo, MM De Santi, ...
European Respiratory Journal 55 (4), 2020
1062020
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