Associated Papers
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
38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience.
Alzaid M et al.
International Journal of Pediatrics & Adolescent Medicine, 2021
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia.
Wang R et al.
Frontiers in Genetics, 2021
33719352 (PubMed )
Supplement: Table_2.xlsx › Table_S2
Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.
Deng S et al.
Bioscience Reports, 2020
Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus.
Zhang W et al.
Journal of Human Genetics, 2019
Genetic basis of human left-right asymmetry disorders.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.
Alsaadi MM et al.
Human Mutation, 2014
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Hjeij R et al.
American Journal of Human Genetics, 2014
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