Associated Papers
Defining Functional Correction Thresholds in Primary Ciliary Dyskinesia for Effective Gene Therapies.
Fitzpatrick BE et al.
Biorxiv : the Preprint Server for Biology, 2026
Changes in sputum viscoelastic properties and airway inflammation in primary ciliary dyskinesia are comparable to cystic fibrosis on elexacaftor/tezacaftor/ivacaftor therapy.
Nussstein H et al.
The European Respiratory Journal, 2026
The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.
Gao Y et al.
Human Reproduction Update, 2026
Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.
Briggs L et al.
American Journal of Respiratory and Critical Care Medicine, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
The Molecular Basis of Multiple Morphological Abnormalities of Sperm Flagella and Its Impact on Clinical Practice.
Zhou Y et al.
Genes, 2024
Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes.
Liu Z et al.
Genetic Testing and Molecular Biomarkers, 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
Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
Wilken A et al.
Cells, 2024
Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy.
Brody SL et al.
Biorxiv : the Preprint Server for Biology, 2024
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.
Aprea I et al.
Frontiers in Genetics, 2023
Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis.
Schramm A et al.
Frontiers in Molecular Biosciences, 2023
Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.
Toro MDC et al.
Genes, 2022
CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia.
Liu L et al.
Medicine, 2021
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
Primary Ciliary Dyskinesia.
Shoemark A et al.
Seminars in Respiratory and Critical Care Medicine, 2021
FREQMAX provides an alternative approach for determining high-resolution allele frequency thresholds in carrier screening.
Subaran RL et al.
Human Mutation, 2020
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
Fassad MR et al.
Journal of Medical Genetics, 2020
A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies.
Liu Z et al.
Science Translational Medicine, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants.
Andjelkovic M et al.
Plos One, 2018
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
CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.
Sui W et al.
The Clinical Respiratory Journal, 2016
An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.
Djakow J et al.
Pediatric Pulmonology, 2016
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
Fedick AM et al.
Molecular Genetics & Genomic Medicine, 2015
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
Raidt J et al.
The European Respiratory Journal, 2014
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D et al.
Human Mutation, 2013
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
Blanchon S et al.
Journal of Medical Genetics, 2012
High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.
Nakhleh N et al.
Circulation, 2012
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
Becker-Heck A et al.
Nature Genetics, 2011