Associated Papers
Mucociliary and cough clearance in primary ciliary dyskinesia as affected by mutations in RSPH1 or DNAH5.
Ostrowski LE et al.
Erj Open Research, 2026
41561107 (PubMed )
Supplement: 00681-2025.SUPPLEMENT.pdf
Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.
Carretero-Vilarroig L et al.
Molecular Diagnosis & Therapy, 2025
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
Evaluating the prevalence of inborn errors of immunity in adults with chronic immune thrombocytopenia or Evans syndrome.
Jiang D et al.
Blood Advances, 2023
37792884 (PubMed )
Supplement: BLOODA_ADV-2023-011042-mmc1.pdf
Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Baz-Redón N et al.
Archivos De Bronconeumologia, 2021
FREQMAX provides an alternative approach for determining high-resolution allele frequency thresholds in carrier screening.
Subaran RL et al.
Human Mutation, 2020
Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.
Baz-Redón N et al.
Journal of Clinical Medicine, 2020
33182294 (PubMed )
Supplement: jcm-09-03603-s001.pdf
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy.
Nutile T et al.
Scientific Reports, 2019
30858532 (PubMed )
Supplement: 41598_2019_41022_MOESM1_ESM.docx
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Kobayashi Y et al.
Genome Medicine, 2017
28166811 (PubMed )
Supplement: 13073_2017_403_MOESM2_ESM.xlsx › Sheet1
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
Marshall CR et al.
G3 (bethesda, Md.), 2015
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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