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
40758541 (PubMed )
Supplement: briggs_data_supplement.pdf
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Genetic spectrum and genotype-phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.
Dong M et al.
Orphanet Journal of Rare Diseases, 2025
Novel homozygous mutations of DNAH5 in Kartagener syndrome.
Cheng XD et al.
Qjm : Monthly Journal of the Association of Physicians, 2022
Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.
Kano G et al.
Molecular Medicine Reports, 2016
Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine.
Castellsagué J et al.
Embo Molecular Medicine, 2015
25810463 (PubMed )
Supplement: emmm0007-0608-sd2.xlsx › MPNST-SP-002_SNV
A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family.
Zhang J et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2014
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