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Genetic basis of mitochondrial diseases

FEBS letters, 2021-04, Vol.595 (8), p.1132-1158

2021

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ncRNAs: New Players in Mitochondrial Health and Disease?

Frontiers in genetics, 2020-02, Vol.11, p.95-95

2020

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Mitochondria: Much ado about nothing? How dangerous is reactive oxygen species production?

The international journal of biochemistry & cell biology, 2015-06, Vol.63, p.16-20

2015

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Genetics of mitochondrial diseases: Identifying mutations to help diagnosis

EBioMedicine, 2020-06, Vol.56, p.102784-102784, Article 102784

2020

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Detection of aberrant splicing events in RNA-seq data using FRASER

Nature communications, 2021-01, Vol.12 (1), p.529-529, Article 529

2021

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Advancing genomic approaches to the molecular diagnosis of mitochondrial disease

Essays in biochemistry, 2018-07, Vol.62 (3), p.399

2018

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Detection of aberrant gene expression events in RNA sequencing data

Nature protocols, 2021-02, Vol.16 (2), p.1276-1296

2021

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Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology

International journal of molecular sciences, 2024-05, Vol.25 (9), p.4602

2024

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Assessing Mitochondrial Bioenergetics in Isolated Mitochondria from Various Mouse Tissues Using Seahorse XF96 Analyzer

Methods in molecular biology (Clifton, N.J.), 2017-01, Vol.1567, p.217

2017

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OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data

American journal of human genetics, 2018-12, Vol.103 (6), p.907-917

2018

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The Dimensions of Primary Mitochondrial Disorders

Frontiers in cell and developmental biology, 2020-11, Vol.8, p.600079-600079

2020

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Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

Nature communications, 2016-06, Vol.7 (1), p.12039-10, Article 12039

2016

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Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines

Methods in molecular biology (Clifton, N.J.), 2017-01, Vol.1567, p.391

2017

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Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

Journal of medical genetics, 2016-04, Vol.53 (4), p.270-278

2016

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Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers

International journal of molecular sciences, 2021-10, Vol.22 (20), p.11080

2021

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Corrigendum: ncRNAs: New Players in Mitochondrial Health and Disease?

Frontiers in genetics, 2020-03, Vol.11, p.288-288

2020

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Recessive mutations in >VPS13D cause childhood onset movement disorders

Annals of neurology, 2018-06, Vol.83 (6), p.1089-1095

2018

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Differences between human plasma and serum metabolite profiles

PloS one, 2011-07, Vol.6 (7), p.e21230-e21230

2011

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Quantification and discovery of sequence determinants of protein‐per‐mRNA amount in 29 human tissues

Molecular systems biology, 2019-02, Vol.15 (2), p.e8513-n/a

2019

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Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease

Journal of inherited metabolic disease, 2019-09, Vol.42 (5), p.909-917

2019

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NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Brain (London, England : 1878), 2020-02, Vol.143 (2), p.e8-e8

2020

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Treatable mitochondrial diseases: cofactor metabolism and beyond

Brain (London, England : 1878), 2017-02, Vol.140 (2), p.e11-e11

2017

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OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer

PloS one, 2018-07, Vol.13 (7), p.e0199938-e0199938

2018

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Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

Human genomics, 2023-09, Vol.17 (1), p.1-85, Article 85

2023

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Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects

International journal of molecular sciences, 2023-08, Vol.24 (16), p.12580

2023

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Genetic basis of mitochondrial diseases

ncRNAs: New Players in Mitochondrial Health and Disease?

Mitochondria: Much ado about nothing? How dangerous is reactive oxygen species production?

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis

Detection of aberrant splicing events in RNA-seq data using FRASER

Advancing genomic approaches to the molecular diagnosis of mitochondrial disease

Detection of aberrant gene expression events in RNA sequencing data

Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology

Assessing Mitochondrial Bioenergetics in Isolated Mitochondria from Various Mouse Tissues Using Seahorse XF96 Analyzer

OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data

The Dimensions of Primary Mitochondrial Disorders

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers

Corrigendum: ncRNAs: New Players in Mitochondrial Health and Disease?

Recessive mutations in >VPS13D cause childhood onset movement disorders

Differences between human plasma and serum metabolite profiles

Quantification and discovery of sequence determinants of protein‐per‐mRNA amount in 29 human tissues

Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Treatable mitochondrial diseases: cofactor metabolism and beyond

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects

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