Primary ciliary dyskinesia: a big data genomics approach
Author:
Funder
UCL
Publisher
Elsevier BV
Subject
Pulmonary and Respiratory Medicine
Reference12 articles.
1. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis;Hannah;Lancet Respir Med,2022
2. Motile cilia and airway disease;Legendre;Semin Cell Dev Biol,2021
3. The controversies and difficulties of diagnosing primary ciliary dyskinesia;Shoemark;Am J Respir Crit Care Med,2020
4. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children;Kuehni;Eur Respir J,2010
5. Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort;Fassad;J Med Genet,2020
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1. Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis;Orphanet Journal of Rare Diseases;2024-08-23
2. Development and Initial Characterization of Pigs withDNAI1Mutations and Primary Ciliary Dyskinesia;2024-05-26
3. ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects;Frontiers in Genetics;2023-10-31
4. Otolaryngological burden of disease in children with primary ciliary dyskinesia in Victoria, Australia;International Journal of Pediatric Otorhinolaryngology;2023-10
5. Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic;Genes;2023-02-21
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