The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum
Objectives Diagnostic process of mitochondrial disorders (MD) is challenging because of the
clinical variability and genetic heterogeneity of these conditions. Next-Generation …
clinical variability and genetic heterogeneity of these conditions. Next-Generation …
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre
E Pronicka, D Piekutowska-Abramczuk, E Ciara… - Journal of translational …, 2016 - Springer
Background Whole-exome sequencing (WES) has led to an exponential increase in
identification of causative variants in mitochondrial disorders (MD). Methods We performed …
identification of causative variants in mitochondrial disorders (MD). Methods We performed …
The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study
D Tolomeo, D Orsucci, C Nesti, J Baldacci… - Journal of Clinical …, 2021 - mdpi.com
Mitochondrial diseases (MDs) are a large group of genetically determined multisystem
disorders, characterized by extreme phenotypic heterogeneity, attributable in part to the dual …
disorders, characterized by extreme phenotypic heterogeneity, attributable in part to the dual …
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with …
C Nogueira, L Silva, C Pereira, L Vieira, EL Teles… - Mitochondrion, 2019 - Elsevier
Mitochondrial diseases (MD) are a group of rare inherited disorders, characterized by
phenotypic heterogeneity, with hitherto no effective therapeutic options. The aim of this study …
phenotypic heterogeneity, with hitherto no effective therapeutic options. The aim of this study …
Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease
K Grigalionienė, B Burnytė, L Ambrozaitytė… - Orphanet journal of rare …, 2023 - Springer
Abstract Background Mitochondrial Diseases (MDs) are a diverse group of neurometabolic
disorders characterized by impaired mitochondrial oxidative phosphorylation and caused by …
disorders characterized by impaired mitochondrial oxidative phosphorylation and caused by …
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis
TH Wu, J Peng, L Yang, YH Chen, XL Lu, JT Huang… - Scientific Reports, 2023 - nature.com
Mitochondrial diseases (MDs) were a large group multisystem disorders, attributable in part
to the dual genomic control. The advent of massively sequencing has improved diagnostic …
to the dual genomic control. The advent of massively sequencing has improved diagnostic …
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
MHY Tsang, AKY Kwong, KLS Chan, JLF Fung… - Human Genomics, 2020 - Springer
Abstract Background Mitochondrial diseases (MDs) are a group of clinically and genetically
heterogeneous disorders characterized by defects in oxidative phosphorylation. Since …
heterogeneous disorders characterized by defects in oxidative phosphorylation. Since …
The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study
C Nogueira, C Pereira, L Silva, M Laranjeira… - Frontiers in Cell and …, 2024 - frontiersin.org
Introduction: Rare disorders that are genetically and clinically heterogeneous, such as
mitochondrial diseases (MDs), have a challenging diagnosis. Nuclear genes codify most …
mitochondrial diseases (MDs), have a challenging diagnosis. Nuclear genes codify most …
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
Purpose The utility of genome sequencing (GS) in the diagnosis of suspected pediatric
mitochondrial disease (MD) was investigated. Methods An Australian cohort of 40 pediatric …
mitochondrial disease (MD) was investigated. Methods An Australian cohort of 40 pediatric …
[HTML][HTML] Panel-based nuclear and mitochondrial next-generation sequencing outcomes of an ethnically diverse pediatric patient cohort with mitochondrial disease
Mitochondrial disease (MD) is a group of rare inherited disorders with clinical
heterogeneous phenotypes. Recent advances in next-generation sequencing (NGS) allow …
heterogeneous phenotypes. Recent advances in next-generation sequencing (NGS) allow …