Associated Papers
Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes.
Tejura M et al.
American Journal of Human Genetics, 2024
Axonemal structures reveal mechanoregulatory and disease mechanisms.
Walton T et al.
Nature, 2023
Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis.
Schramm A et al.
Frontiers in Molecular Biosciences, 2023
ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects.
Zhou N et al.
Frontiers in Genetics, 2023
38028630 (PubMed )
Supplement: DataSheet1.pdf
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
Kos R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.
Ostrowski LE et al.
International Journal of Molecular Sciences, 2022
Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus.
Chen X et al.
Experimental and Therapeutic Medicine, 2020
CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal disease.
Li P et al.
Journal of Human Genetics, 2019
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
Onoufriadis A et al.
American Journal of Human Genetics, 2013
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