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
A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility.
Zhou Z et al.
Asian Journal of Andrology, 2025
CFAP300 mutation causing primary ciliary dyskinesia in Finland.
Schultz R et al.
Frontiers in Genetics, 2022
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.
Lee DDH et al.
The European Respiratory Journal, 2021
CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking.
Zietkiewicz E et al.
American Journal of Respiratory Cell and Molecular Biology, 2019
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
Fassad MR et al.
American Journal of Human Genetics, 2018
Select a paper to view details