Associated Papers
The Genetic Defects of N-DRC in Male Infertility.
Qin J et al.
Clinical Genetics, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
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
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The ignored structure in female fertility: cilia in the fallopian tubes.
He L et al.
Reproductive Biomedicine Online, 2025
Genetic etiological spectrum of sperm morphological abnormalities.
Arora M et al.
Journal of Assisted Reproduction and Genetics, 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
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.
Pereira R et al.
Journal of Assisted Reproduction and Genetics, 2023
Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic.
Tinoco EM et al.
Genes, 2023
Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies.
LeBlanc S et al.
American Journal of Medical Genetics. Part A, 2022
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Wheway G et al.
Bmc Medical Genomics, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders.
Oud MS et al.
Human Reproduction (oxford, England), 2021
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia.
Pifferi M et al.
Annals of the American Thoracic Society, 2021
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 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
Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.
Hallengren E et al.
Plos One, 2015
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
Wirschell M et al.
Nature Genetics, 2013