Shoemark, Amelia

Dr

  • 125 Citations
  • 6 h-Index
20152021
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Research Output 2017 2019

  • 125 Citations
  • 6 h-Index
  • 21 Article
  • 4 Editorial
  • 4 Review article
  • 3 Letter
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Article
2019
8 Citations (Scopus)
45 Downloads (Pure)

Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia

Rubbo, B., Shoemark, A., Jackson, C. L., Hirst, R., Thompson, J., Hayes, J., Frost, E., Copeland, F., Hogg, C., O'Callaghan, C., Reading, I. & Lucas, J. S., 1 May 2019, In : Chest. 155, 5, p. 1008-1017 10 p.

Research output: Contribution to journalArticle

Open Access
File
Kartagener Syndrome
Video Microscopy
Routine Diagnostic Tests
Guidelines
Referral and Consultation
3 Citations (Scopus)

Airway Bacterial Load and Inhaled Antibiotic Response in Bronchiectasis

Sibila, O., Laserna, E., Shoemark, A., Keir, H. R., Finch, S., Rodrigo-Troyano, A., Perea, L., Lonergan, M., Goeminne, P. C. & Chalmers, J. D., 1 Jul 2019, In : American Journal of Respiratory and Critical Care Medicine. 200, 1, p. 33-41 9 p.

Research output: Contribution to journalArticle

Bronchiectasis
Bacterial Load
Anti-Bacterial Agents
Aztreonam
Quality of Life
84 Downloads (Pure)

Antimicrobial peptides, disease severity and exacerbations in bronchiectasis

Sibila, O., Perea, L., Cantó, E., Shoemark, A., Cassidy, D., Smith, A. H., Suarez-cuartin, G., Rodrigo-troyano, A., Keir, H. R., Oriano, M., Ong, S., Vidal, S., Blasi, F., Aliberti, S. & Chalmers, J. D., Sep 2019, In : Thorax. 74, 9, p. 835-842 8 p.

Research output: Contribution to journalArticle

Open Access
File
Secretory Leukocyte Peptidase Inhibitor
Bronchiectasis
Disease Progression
Peptides
Sputum
2 Citations (Scopus)

A point of care neutrophil elastase activity assay identifies bronchiectasis severity, airway infection and risk of exacerbation

Shoemark, A., Cant, E., Carreto, L., Smith, A., Oriano, M., Keir, H. R., Perea, L., Canto, E., Terranova, L., Vidal, S., Moffitt, K., Aliberti, S., Sibila, O. & Chalmers, J. D., 1 Jun 2019, In : European Respiratory Journal. 53, 6, 1900303.

Research output: Contribution to journalArticle

Point-of-Care Systems
Leukocyte Elastase
Bronchiectasis
Sputum
Infection

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

Wallmeier, J., Frank, D., Shoemark, A., Nöthe-Menchen, T., Cindric, S., Olbrich, H., Loges, N. T., Aprea, I., Dougherty, G. W., Pennekamp, P., Kaiser, T., Mitchison, H. M., Hogg, C., Carr, S. B., Zariwala, M. A., Ferkol, T., Leigh, M. W., Davis, S. D., Atkinson, J., Dutcher, S. K. & 10 others, Knowles, M. R., Thiele, H., Altmüller, J., Krenz, H., Wöste, M., Brentrup, A., Ahrens, F., Vogelberg, C., Morris-Rosendahl, D. J. & Omran, H., 7 Nov 2019, In : American Journal of Human Genetics. 105, 5, p. 1030-1039 10 p.

Research output: Contribution to journalArticle

Cilia
Hydrocephalus
Random Allocation
Cerebrospinal Fluid
Mutation
1 Citation (Scopus)
83 Downloads (Pure)
Open Access
File
Pregnancy Proteins
Bronchiectasis
Infection
Sputum
Fluorescence Microscopy
3 Citations (Scopus)
144 Downloads (Pure)

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

Best, S., Shoemark, A., Rubbo, B., Patel, M. P., Fassad, M. R., Dixon, M., Rogers, A. V., Hirst, R. A., Rutman, A., Ollosson, S., Jackson, C. L., Goggin, P., Thomas, S., Pengelly, R., Cullup, T., Pissaridou, E., Hayward, J., Onoufriadis, A., O'Callaghan, C., Loebinger, M. R. & 8 others, Wilson, R., Chung, E. M., Kenia, P., Doughty, V. L., Carvalho, J. S., Lucas, J. S., Mitchison, H. M. & Hogg, C., Feb 2019, In : Thorax. 74, 2, p. 203-205 3 p.

Research output: Contribution to journalArticle

Open Access
File
Kartagener Syndrome
Heart Diseases
Parents
Situs Inversus
Genetic Association Studies
1 Citation (Scopus)
Bronchiectasis
Meta-Analysis
Anti-Bacterial Agents
Safety
Sputum

Time trends in diagnostic testing for primary ciliary dyskinesia in Europe

Halbeisen, F. S., Shoemark, A., Barbato, A., Boon, M., Carr, S., Crowley, S., Hirst, R., Karadag, B., Koerner-Rettberg, C., Loebinger, M. R., Lucas, J. S., Maitre, B., Mazurek, H., Özçelik, U., Martinů, V., Schwerk, N., Thouvenin, G., Tschanz, S. A., Yiallouros, P., Goutaki, M. & 1 others, Kuehni, C. E., Oct 2019, In : European Respiratory Journal. 54, 4, 1900528.

Research output: Contribution to journalArticle

Kartagener Syndrome
Video Microscopy
Electron Microscopy
Nose
Routine Diagnostic Tests
2018
8 Citations (Scopus)
132 Downloads (Pure)

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

Fassad, M. R., Shoemark, A., le Borgne, P., Koll, F., Patel, M., Dixon, M., Hayward, J., Richardson, C., Frost, E., Jenkins, L., Cullup, T., Chung, E. M. K., Lemullois, M., Aubusson-Fleury, A., Hogg, C., Mitchell, D. R., Tassin, A-M. & Mitchison, H. M., 3 May 2018, In : American Journal of Human Genetics. 102, 5, p. 956-972 17 p.

Research output: Contribution to journalArticle

Open Access
File
Axonemal Dyneins
Kartagener Syndrome
Cilia
Dyneins
Mutation
5 Citations (Scopus)
80 Downloads (Pure)

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

Hartill, V. L., van de Hoek, G., Patel, M. P., Little, R., Watson, C. M., Berry, I. R., Shoemark, A., Abdelmottaleb, D., Parkes, E., Bacchelli, C., Szymanska, K., Knoers, N. V. A. M., Scambler, P. J., Ueffing, M., Boldt, K., Yates, R., Winyard, P. J., Adler, B., Moya, E., Hattingh, L. & 8 others, Shenoy, A., Hogg, C., Sheridan, E., Roepman, R., Norris, D., Mitchison, H. M., Giles, R. H. & Johnson, C. A., 1 Feb 2018, In : Human Molecular Genetics. 27, 3, p. 529-545 17 p.

Research output: Contribution to journalArticle

Open Access
File
Dyneins
Adenosine Triphosphatases
Heart Diseases
Zebrafish
Missense Mutation
16 Citations (Scopus)
96 Downloads (Pure)

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

Shoemark, A., Moya, E., Hirst, R. A., Patel, M., Robson, E. A., Hayward, J., Scully, J., Fassad, M. R., Lamb, W., Schmidts, M., Dixon, M., Patel-King, R. S., Rogers, A. V., Rutman, A., Jackson, C. L., Goggin, P., Rubbo, B., Ollosson, S., Carr, S., Walker, W. & 17 others, Adler, B., Loebinger, M., Wilson, R., Bush, A., Williams, H., Boustred, C., Jenkins, L., Sheridan, E., Chung, E. M. K., Watson, C. M., Cullup, T., Lucas, J. S., Kenia, P., O'Callaghan, C. A., King, S. M., Hogg, C. & Mitchison, H. M., 1 Feb 2018, In : Thorax. 73, 2, p. 157-166 10 p.

Research output: Contribution to journalArticle

Open Access
File
Kartagener Syndrome
Situs Inversus
Mutation
Routine Diagnostic Tests
Dyneins
10 Citations (Scopus)
146 Downloads (Pure)

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

Fassad, M. R., Shoemark, A., Legendre, M., Hirst, R. A., Koll, F., le Borgne, P., Louis, B., Daudvohra, F., Patel, M. P., Thomas, L., Dixon, M., Burgoyne, T., Hayes, J., Nicholson, A. G., Cullup, T., Jenkins, L., Carr, S. B., Aurora, P., Lemullois, M., Aubusson-Fleury, A. & 6 others, Papon, J-F., Amselem, S., Hogg, C., Escudier, E., Tassin, A-M. & Mitchison, H. M., 6 Dec 2018, In : American Journal of Human Genetics. 103, 6, p. 984-994 11 p.

Research output: Contribution to journalArticle

Open Access
File
Situs Inversus
Dyneins
Cilia
Mutation
Kartagener Syndrome
5 Citations (Scopus)
85 Downloads (Pure)

Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index

Irving, S., Dixon, M., Fassad, M. R., Frost, E., Hayward, J., Kilpin, K., Ollosson, S., Onoufriadis, A., Patel, M. P., Scully, J., Carr, S. B., Mitchison, H. M., Loebinger, M. R., Hogg, C., Shoemark, A. & Bush, A., Apr 2018, In : Lung. 196, 2, p. 231-238 8 p.

Research output: Contribution to journalArticle

Open Access
File
Kartagener Syndrome
Lung
Dyneins
Obstructive Lung Diseases
Cilia
3 Citations (Scopus)
53 Downloads (Pure)

Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11

Shoemark, A., Burgoyne, T., Kwan, R., Dixon, M., Patel, M. P., Rogers, A. V., Onoufriadis, A., Scully, J., Daudvohra, F., Cullup, T., Loebinger, M. R., Wilson, R., Chung, E. M. K., Bush, A., Mitchison, H. M. & Hogg, C., Feb 2018, In : European Respiratory Journal. 51, 2, 1701809.

Research output: Contribution to journalArticle

Open Access
File
Kartagener Syndrome
Electron Microscope Tomography
Transmission Electron Microscopy
Tomography
Mutation
2 Citations (Scopus)
91 Downloads (Pure)

Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: Part 1

Halbeisen, F., Hogg, C., Alanin, M. C., Bukowy-Bieryllo, Z., Dasi, F., Duncan, J., Friend, A., Goutaki, M., Jackson, C., Keenan, V., Harris, A., Hirst, R. A., Latzin, P., Marsh, G., Nielsen, K., Norris, D., Pellicer, D., Reula, A., Rubbo, B., Rumman, N. & 4 others, Shoemark, A., Walker, W. T., Kuehni, C. E. & Lucas, J. S., 5 Mar 2018, In : BMC Proceedings. 12, Suppl. 2, p. 1-17 17 p., 1.

Research output: Contribution to journalArticle

Open Access
File
Kartagener Syndrome
Epidemiology
Pulmonary diseases
Testing
Education
71 Downloads (Pure)

Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School

Farley, H., Rubbo, B., Bukowy-Bieryllo, Z., Fassad, M., Goutaki, M., Harman, K., Hogg, C., Kuehni, C. E., Lopes, S., Nielsen, K. G., Norris, D. P., Reula, A., Rumman, N., Shoemark, A., Wilkins, H., Wisse, A., Lucas, J. S. & Marthin, J. K., 18 Dec 2018, In : BMC Proceedings. 12, p. 1-15 15 p., 64.

Research output: Contribution to journalArticle

Open Access
File
Kartagener Syndrome
Epidemiology
Defects
Testing
Education
3 Citations (Scopus)
71 Downloads (Pure)

ZMYND10 functions in a chaperone relay during axonemal dynein assembly

Mali, G. R., Yeyati, P. L., Mizuno, S., Tennant, P. A., Keighren, M. A., Lage, P. Z., Shoemark, A., Garcia-Munoz, A., Shimada, A., Takeda, H., Edlich, F., Takahashi, S., von Kriegsheim, A., Jarman, A. P. & Mill, P., 19 Jun 2018, In : eLife. 7, p. 1-27 27 p., e34389.

Research output: Contribution to journalArticle

Open Access
File
Axonemal Dyneins
Dyneins
Proteostasis Deficiencies
Kartagener Syndrome
Molecular Chaperones
2017
32 Citations (Scopus)
81 Downloads (Pure)

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

Shoemark, A., Frost, E., Dixon, M., Ollosson, S., Kilpin, K., Patel, M., Scully, J., Rogers, A. V., Mitchison, H. M., Bush, A. & Hogg, C., 1 Jul 2017, In : American Journal of Respiratory and Critical Care Medicine. 196, 1, p. 94-101 8 p.

Research output: Contribution to journalArticle

Open Access
File
Kartagener Syndrome
Fluorescent Antibody Technique
Microscopy
Staining and Labeling
Genetic Research
2 Citations (Scopus)
131 Downloads (Pure)

Applications of emerging transmission electron microscopy technology in PCD research and diagnosis

Shoemark, A., Sep 2017, In : Ultrastructural Pathology. 41, 6, p. 408-414 7 p.

Research output: Contribution to journalArticle

Open Access
File
Electron Microscope Tomography
Kartagener Syndrome
Transmission Electron Microscopy
Technology
Cilia
6 Citations (Scopus)
110 Downloads (Pure)

Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics

Dixon, M. & Shoemark, A., 2017, In : Ultrastructural Pathology. 41, 6, p. 390-398 9 p.

Research output: Contribution to journalArticle

Open Access
File
Kartagener Syndrome
Transmission Electron Microscopy
Diagnostic Errors
Ciliary Motility Disorders
Video Microscopy