Associated Papers
The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.
Gao Y et al.
Human Reproduction Update, 2026
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
41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
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
38562900 (PubMed )
Supplement: NIHPP2024.03.20.585965v1-supplement-2.pdf
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
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes
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
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.
Lee DDH et al.
The European Respiratory Journal, 2021
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
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
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
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