Associated Papers
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
Rai A et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia.
Zhou L et al.
Molecular Medicine Reports, 2020
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hartill VL et al.
Human Molecular Genetics, 2018
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
Watson CM et al.
Human Mutation, 2014
24307375 (PubMed )
Supplement: humu0035-0434-SD1.pdf
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