Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
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Genome Medicine, 2025
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Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1
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
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Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia.
Kurkowiak M et al.
Plos One, 2016
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Moore DJ et al.
American Journal of Human Genetics, 2013
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