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Author Details

David R Thorburn
1984
233
64
PMIDPaper TitleJournal TitlePublished Year
37291213Integrated multi-omics for rapid rare disease diagnosis on a national scale.Nat Med2023
36305855Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.Genet Med2023
37732891Mitochondrial disease in New Zealand: a nationwide prevalence study.2023
37151360Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of <i>CARS2</i>-related mitochondrial disease.JIMD Rep2023
37148394Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.2023
37272928Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.Genet Med2023
36896486A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.Am J Med Genet A2023
36823193TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.Nat Commun2023
37133451Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.Hum Mol Genet2023
36813309Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease.Handb Clin Neurol2023
36868206Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.Am J Hum Genet2023
35055180Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.Int J Mol Sci2022
35394429PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.Genet Med2022
36101822Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.JIMD Rep2022
36030551Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.Hum Mutat2022
36341169Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo <i>CTBP1</i> variant.JIMD Rep2022
35433172Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.JIMD Rep2022
35803560Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.Eur J Med Genet2022
36475414Mitochondrial biology and dysfunction in secondary mitochondrial disease.Open Biology2022
34099885Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation.Eur J Hum Genet2022
34740920Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.J Med Genet2022
35333655Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module.Proceedings of the National Academy of Sciences of the United States of America2022
35147173Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.Hum Mol Genet2022
34400813PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.Genet Med2021
33905871Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder.Neurobiol Dis2021
33476211The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism.Molecular Biology of the Cell2021
33575671Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus.Med2021
34146515Mitochondrial disease in adults: recent advances and future promise.Lancet Neurol2021
33924034Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.Genes (Basel)2021
34299348Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?International Journal of Molecular Sciences2021
33169484A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.Human Mutation2021
33169436Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.Hum Mutat2021
33327715Biallelic mutations presenting as sideroblastic anemia.Haematologica2021
34862379High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content.Nature Communications2021
32442335The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.Hum Mutat2020
32317297HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.Molecular and Cellular Proteomics2020
32313153The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.Genet Med2020
32186514Correction: Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome.eLife2020
32183956Assessment of mitochondrial respiratory chain enzymes in cells and tissues.Methods Cell Biol2020
32399598Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).Hum Genet2020
31358953Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.Eur J Hum Genet2019
31682224Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome.eLife2019
31752325Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> Variants.J Clin Med2019
30558828Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.Mol Genet Metab2019
30576410NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.Brain2019
29654549Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.JIMD Reports2019
29233888Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology.Journal of Biological Chemistry2019
30981218A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.Hum Mutat2019
30865256Public attitudes towards novel reproductive technologies: a citizens' jury on mitochondrial donation.Hum Reprod2019
31171843Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon.Genet Med2019
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