Associated Papers
Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.
Briggs L et al.
American Journal of Respiratory and Critical Care Medicine, 2025
Genetic etiological spectrum of sperm morphological abnormalities.
Arora M et al.
Journal of Assisted Reproduction and Genetics, 2024
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
Primary Ciliary Dyskinesia.
Shoemark A et al.
Seminars in Respiratory and Critical Care Medicine, 2021
Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.
Bush A et al.
Expert Review of Respiratory Medicine, 2012
Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia.
Djakow J et al.
Pediatric Pulmonology, 2012
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
Leigh MW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
Genetic causes of bronchiectasis: primary ciliary dyskinesia.
Morillas HN et al.
Respiration; International Review of Thoracic Diseases, 2007
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