№ files_lp_4_process_1_45358
File format: docx
Character count: 78240
File size: 86 KB
A scholarly review summarizing genetic causes, clinical variability, diagnostic approaches, and emerging research on primary ciliary dyskinesia, with focus on next-generation sequencing and genotype-phenotype correlations.
Year:
2026
Region / city:
Southampton, UK; Chapel Hill, NC, USA; Muenster, Germany; Dundee, UK; London, UK
Topic:
Primary ciliary dyskinesia, genetics, clinical research
Document type:
Review article
Institution:
University Hospital Southampton NHS Foundation Trust; University of Southampton; University of North Carolina School of Medicine; University Hospital Muenster; University of Dundee; Royal Brompton and Harefield NHS Trust
Authors:
Jane S Lucas, Stephanie D. Davis, Heymut Omran, Amelia Shoemark
Correspondence:
Jane Lucas, [email protected]
Funding:
NIHR Southampton Biomedical Research Centre, NHS England, Genetic Disorders of Mucociliary Clearance Consortium, German Research Foundation, Horizon2020, COST Action BEAT-PCD
Key words:
primary ciliary dyskinesia, cilia, diagnosis, genetic testing, treatment
Target audience:
clinicians, researchers in genetics and pulmonology
Abstract word count:
5617
Ethics / conflicts of interest:
disclosed financial and non-financial interests as reported by authors
Clinical relevance:
respiratory disease, neonatal care, infertility, rare disease genetics
End date of coverage:
current
Price: 8 / 10 USD
The file will be delivered to the email address provided at checkout within 12 hours.
The file will be delivered to the email address provided at checkout within 12 hours.
Don’t have cryptocurrency yet?
You can still complete your purchase in a few minutes:- Buy Crypto in a trusted app (Coinbase, Kraken, Cash App or any similar service).
- In the app, tap Send.
- Select network, paste our wallet address.
- Send the exact amount shown above.
The final amount may vary slightly depending on the payment method.
The file will be sent to the email address provided at checkout within 24 hours.
The product description is provided for reference. Actual content and formatting may differ slightly.
Year:
2018
Region / City:
Southampton, UK; Chapel Hill, North Carolina, USA; Toronto, Ontario, Canada; Miami, Florida, USA; London, UK
Topic:
Paediatric health-related quality of life instruments, Primary ciliary dyskinesia
Document Type:
Research article
Author:
Laura Behan, Margaret W Leigh, Sharon D Dell, Alexandra L Quittner, Claire Hogg, Jane S Lucas
Target Audience:
Researchers, clinicians, healthcare professionals, and institutions involved in rare diseases and respiratory medicine
Period of Validity:
N/A
Approval Date:
N/A
Date of Changes:
N/A
Year:
2019
Subject:
Primary ciliary dyskinesia diagnosis and diagnostic test accuracy
Document type:
Scientific correspondence / research discussion
Authors:
Jane S Lucas; Bruna Rubbo; Claire L Jackson; Robert A Hirst; Claire Hogg; Christopher O’Callaghan; Isabel C Reading; Amelia Shoemark
Institutions:
University Hospital Southampton NHS Foundation Trust; University of Southampton Faculty of Medicine; University of Leicester; Royal Brompton Hospital; Imperial College London; UCL Great Ormond Street Institute of Child Health; University of Dundee
Country:
United Kingdom
Field:
Respiratory medicine; clinical diagnostics
Keywords:
primary ciliary dyskinesia; diagnostic tests; high-speed video analysis; microscopy; nasal nitric oxide
Conflict of interest statement:
All authors declared no conflicts of interest
Referenced guidelines:
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia; American Thoracic Society clinical practice guideline
Related methods discussed:
high-speed video analysis (HSVA); nasal nitric oxide measurement; transmission electron microscopy; genetic testing; immunofluorescence testing
Year:
2018
Region / City:
Southampton, UK; Chapel Hill, North Carolina, USA; Toronto, Ontario, Canada; Miami, Florida, USA; London, UK
Topic:
Paediatric health-related quality of life instruments, Primary ciliary dyskinesia
Document Type:
Research article
Author:
Laura Behan, Margaret W Leigh, Sharon D Dell, Alexandra L Quittner, Claire Hogg, Jane S Lucas
Target Audience:
Researchers, clinicians, healthcare professionals, and institutions involved in rare diseases and respiratory medicine
Period of Validity:
N/A
Approval Date:
N/A
Date of Changes:
N/A
Year:
2019
Subject:
Primary ciliary dyskinesia diagnosis and diagnostic test accuracy
Document type:
Scientific correspondence / research discussion
Authors:
Jane S Lucas; Bruna Rubbo; Claire L Jackson; Robert A Hirst; Claire Hogg; Christopher O’Callaghan; Isabel C Reading; Amelia Shoemark
Institutions:
University Hospital Southampton NHS Foundation Trust; University of Southampton Faculty of Medicine; University of Leicester; Royal Brompton Hospital; Imperial College London; UCL Great Ormond Street Institute of Child Health; University of Dundee
Country:
United Kingdom
Field:
Respiratory medicine; clinical diagnostics
Keywords:
primary ciliary dyskinesia; diagnostic tests; high-speed video analysis; microscopy; nasal nitric oxide
Conflict of interest statement:
All authors declared no conflicts of interest
Referenced guidelines:
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia; American Thoracic Society clinical practice guideline
Related methods discussed:
high-speed video analysis (HSVA); nasal nitric oxide measurement; transmission electron microscopy; genetic testing; immunofluorescence testing
Year:
2024
Region / City:
United States
Topic:
Medical Education, Training Programs
Document Type:
Guidelines
Institution:
The American Board of Obstetrics and Gynecology, The American Board of Medical Genetics and Genomics
Author:
N/A
Target Audience:
Program Directors, Medical Institutions, Trainees
Effective Period:
Ongoing
Approval Date:
February 2024
Modification Date:
N/A
Year:
2026
Region / City:
United Kingdom
Topic:
Genomics Education, Pharmacogenomics, NHS Workforce Development
Document Type:
Written Evidence Submission
Organization / Institution:
Royal Pharmaceutical Society
Author:
Royal Pharmaceutical Society
Target Audience:
NHS professionals, educational providers, healthcare policy makers
Period of Action:
2026-2030
Approval Date:
2026
Date of Amendments:
N/A
Year:
2026
Region / City:
Not specified
Topic:
Research Funding, Academic Support
Document Type:
Application Guidelines
Organization:
Division of Diagnostics Genetics & Genomics (DGG)
Author:
Not specified
Target Audience:
Faculty members in the field of Diagnostic Genetics & Genomics
Period of Activity:
Ongoing
Approval Date:
Not specified
Amendment Date:
Not specified
Note:
Year
Year:
2023
Region / city:
Northern Arizona
Subject:
Genetics, Microbial Research
Document Type:
Protocol
Institution:
Northern Arizona University, College of Engineering, Forestry and Natural Sciences, School of Forestry and Center for Microbial Genetics and Genomics
Author:
Northern Arizona University
Target Audience:
Researchers in microbial genetics, field biologists
Period of validity:
N/A
Approval Date:
N/A
Modification Date:
N/A
Context:
Protocol for collecting guano samples for genetic analysis, detailing materials and procedures for field sampling and preservation.
Document type:
Academic position announcement
Position:
PhD candidate in genomics
Research field:
Genomics, bioinformatics, viral oncology, tumor evolution
Institutions:
GIGA Research Institute, Unit of Animal Genomics; University of Liège; Jules Bordet Cancer Institute; Université libre de Bruxelles
Location:
Liège, Belgium; Brussels, Belgium
Supervision:
Joint supervision with partner university
Research focus:
HTLV-1 and BLV genomics and tumor evolution
Methods mentioned:
Single-cell approaches, short-read sequencing, ONT NGS
Duration:
24 months with possible 24-month renewal
Application deadline:
Open until filled
Required background:
Master degree in bioinformatics, biomedical sciences, or equivalent
Skills mentioned:
Genomics, bioinformatics, communication and organisational skills
Publications cited:
Marçais et al. 2021; Artesi et al. 2021; Rosewick et al. 2020; Rosewick et al. 2017; Artesi et al. 2017; Durkin et al. 2016; Rosewick et al. 2013
Contact:
[email protected]
Note:
Year
Topic:
Genomics Education
Document Type:
Educational Resource
Organization / Institution:
NHS
Author:
Central and South Genomic Medicine Service Alliance
Target Audience:
Nurses, Healthcare Professionals
Year:
2026
Region / City:
Australia
Field:
Functional Genomics
Document Type:
Grant Application
Institution:
Australian Functional Genomics Network (AFGN)
Author:
Not specified
Target Audience:
Researchers in functional genomics and related fields
Period of Validity:
N/A
Approval Date:
N/A
Date of Changes:
N/A
Year:
2022
Region / City:
Duluth, MN
Subject:
Genomics, Proteomics, Actinobacteriophages
Document Type:
Abstract
Institution:
College of St. Scholastica
Author:
Ella K Achterkirch, Julia L Carlson, Jonah C Giermann, Ellie J Peddle, Harrison S Reinke, Rachel A Rhein, Houa Thao, Daniel E Westholm
Target Audience:
Researchers in genomics and proteomics
Period of Validity:
N/A
Approval Date:
N/A
Date of Modifications:
N/A
Context:
This is an academic abstract detailing the comparative genomics and proteomics of two actinobacteriophages, LittleMunchkin and Venti, focusing on their genome sequences, potential genes, and lysogeny analysis.
Year:
2026
Region / City:
United States
Topic:
Genomics, Implementation Science
Document Type:
Request for Approval
Organization / Institution:
National Cancer Institute (NCI)
Author:
Gila Neta
Target Audience:
Genomics researchers, NIH-funded researchers
Period of Effectiveness:
Not specified
Approval Date:
Not specified
Amendment Date:
Not specified
Privacy Act Systems of Records Title:
Not specified
System or Records Notice Published:
No
Year:
2026
Region / City:
Atlantic Canada
Theme:
Genomics, Mining Innovation
Document Type:
Application Instructions
Organization / Institution:
Genome Atlantic
Author:
Kaitlyn Keller
Target Audience:
Researchers, Companies, Academic Institutions
Period of Action:
Not specified
Approval Date:
Not specified
Date of Changes:
Not specified
Year:
2021
Region / city:
Queenstown, New Zealand
Theme:
Genetics, Genomics, Breeding Technologies
Document type:
Programme
Organization:
Plant & Food Research, University of Auckland, AgResearch
Target audience:
Researchers, professionals in genetics and genomics
Period of validity:
29 August – 30 August 2021
Date of approval:
29 August 2021
Date of modifications:
Not specified
Contextual description:
Programme detailing sessions and speakers for a conference on applied genetics and genomics in breeding technologies.