Associated Papers
Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia.
Long Y et al.
Frontiers in Genetics, 2025
A range of 30-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance.
Loges NT et al.
The European Respiratory Journal, 2024
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia.
Wang Y et al.
Journal of Assisted Reproduction and Genetics, 2020
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Olcese C et al.
Nature Communications, 2017
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