Associated Papers
Ferroptosis susceptibility in primary coenzyme Q10 deficiency: Cellular insights from patient fibroblasts and clinical course of six individuals.
Watanabe C et al.
Brain & Development, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Efficient variant phasing utilizing a replication cycle reaction system.
Mitsutake A et al.
Genetics in Medicine Open, 2025
Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.
Schierbaum L et al.
Movement Disorders Clinical Practice, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Primary Coenzyme Q10 Deficiency-Related Ataxias.
Lopriore P et al.
Journal of Clinical Medicine, 2024
The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review.
Pan P et al.
Frontiers in Pediatrics, 2024
Epilepsy and Coenzyme Q10 deficiency with COQ4 variants.
Hsu CJ et al.
Epilepsy & Behavior : E&b, 2023
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease.
Watanabe C et al.
Molecular Genetics and Metabolism Reports, 2023
Whole-exome sequencing of calcitonin-producing pancreatic neuroendocrine neoplasms indicates a unique molecular signature.
Döring C et al.
Frontiers in Oncology, 2023
Predicting and Understanding the Pathology of Single Nucleotide Variants in Human COQ Genes.
Wang S et al.
Antioxidants (basel, Switzerland), 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Laugwitz L et al.
Journal of Medical Genetics, 2022
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway.
Stenshorne I et al.
Frontiers in Pediatrics, 2022
Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?
Moreira JD et al.
Genes, 2021
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts.
Mero S et al.
Journal of Neurology, 2021
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment.
Xie J et al.
Frontiers in Genetics, 2021
Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease.
de Castro MJ et al.
Journal of Clinical Medicine, 2020
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
Yu MH et al.
Npj Genomic Medicine, 2019
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.
Sondheimer N et al.
Molecular Genetics and Metabolism Reports, 2017
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 2016
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
Chung WK et al.
Journal of Medical Genetics, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Brea-Calvo G et al.
American Journal of Human Genetics, 2015