Associated Papers
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.
Sorrentino U et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
A novel polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review.
Li YY et al.
Translational Pediatrics, 2025
Structural insights into human PNPase in health and disease.
Li YC et al.
Nucleic Acids Research, 2025
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Schlüter A et al.
Neurology, 2022
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG et al.
Molecular Genetics and Metabolism, 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
[The utility of whole genome sequencing in rare disease diagnostics].
Johansson Soller M et al.
Lakartidningen, 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
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley LG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
Rius R et al.
Journal of Clinical Medicine, 2019
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A et al.
Genome Medicine, 2019
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Nogueira C et al.
Mitochondrion, 2019
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.
Eaton A et al.
American Journal of Medical Genetics. Part A, 2018
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome.
Aretini P et al.
Bmc Neurology, 2018
Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.
Sato R et al.
Clinical Genetics, 2018
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
Slavotinek AM et al.
Clinical Genetics, 2015
Mitochondrial transcript maturation and its disorders.
Van Haute L et al.
Journal of Inherited Metabolic Disease, 2015