Associated Papers
Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.
Lee S et al.
Npj Genomic Medicine, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.
Misra K et al.
International Journal of Molecular Sciences, 2024
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with COQ6 Variants.
Nam DW et al.
Biomed Research International, 2022
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.
Najafi M et al.
Frontiers in Pediatrics, 2022
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
A Family Segregating Lethal Primary Coenzyme Q10 Deficiency Due to Two Novel COQ6 Variants.
Wang N et al.
Frontiers in Genetics, 2021
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.
Nagano C et al.
Scientific Reports, 2020
Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene.
Nakanishi K et al.
Clinical and Experimental Nephrology, 2019
CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy-a case report.
Stańczyk M et al.
Pediatric Nephrology (berlin, Germany), 2018
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.
Gigante M et al.
Clinical Genetics, 2017
COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss.
Park E et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2017