Associated Papers
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
Fassad MR et al.
Journal of Medical Genetics, 2020
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.
Knowles MR et al.
American Journal of Respiratory and Critical Care Medicine, 2014
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
Kott E et al.
American Journal of Human Genetics, 2013
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