Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Non-coding cause of congenital heart defects: Abnormal RNA splicing with multiple isoforms as a mechanism for heterotaxy.
Wells JR et al.
Hgg Advances, 2024
Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy.
Brody SL et al.
Biorxiv : the Preprint Server for Biology, 2024
38562900 (PubMed )
Supplement: NIHPP2024.03.20.585965v1-supplement-2.pdf
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.
Hannah WB et al.
The Lancet. Respiratory Medicine, 2022
A Study on the Genetics of Primary Ciliary Dyskinesia.
Alsamri MT et al.
Journal of Clinical Medicine, 2021
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.
Mani R et al.
Human Mutation, 2020
Ultrastructural Sperm Flagellum Defects in a Patient With CCDC39 Compound Heterozygous Mutations and Primary Ciliary Dyskinesia/Situs Viscerum Inversus.
Cannarella R et al.
Frontiers in Genetics, 2020
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D et al.
Human Mutation, 2013
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
Blanchon S et al.
Journal of Medical Genetics, 2012
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
Merveille AC et al.
Nature Genetics, 2011
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