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Author Details

Patrick F Chinnery
School of Clinical Medicine, University of Cambridge
1990
596
99
PMIDPaper TitleJournal TitlePublished Year
37438874Multisystem pathology in McLeod syndrome.Neuropathology2024
36253087Whole-genome sequencing for mitochondrial disorders identifies unexpected mimics.Pract Neurol2023
37587338Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.Nature2023
37516995Neuromuscular disease genetics in under-represented populations: increasing data diversity.Brain2023
37650884Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.Genet Med2023
37609196An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.bioRxiv2023
37878704High-throughput single-cell analysis reveals progressive mitochondrial DNA mosaicism throughout life.Sci Adv2023
37815936CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.Hum Mol Genet2023
37106085Opportunities for mitochondrial disease gene therapy.Nat Rev Drug Discov2023
36522542Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos.Nat Cell Biol2023
36813319Mitochondrial disease in neurology-Past, present, and future.Handb Clin Neurol2023
36686280High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease.Neurol Genet2023
36711677Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.medRxiv2023
36608143A role for BCL2L13 and autophagy in germline purifying selection of mtDNA.PLoS Genet2023
36827974Cell lineage-specific mitochondrial resilience during mammalian organogenesis.Cell2023
35879886Depression, anxiety and PTSD symptoms before and during the COVID-19 pandemic in the UK.Psychol Med2023
34728812Implications of mitochondrial DNA mutations in human induced pluripotent stem cells.Nat Rev Genet2022
35617047RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.J Clin Invest2022
35469785WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.Am J Ophthalmol2022
35363781Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.PLoS Genet2022
35488929Heteroplasmic mitochondrial DNA mutations in frontotemporal lobar degeneration.Acta Neuropathol2022
36044900The human mitochondrial genome contains a second light strand promoter.Mol Cell2022
36174964Modulating mitochondrial DNA mutations: factors shaping heteroplasmy in the germ line and somatic cells.Pharmacol Res2022
36198798Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes.Nature2022
35913155Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy using Digital Droplet Polymerase Chain Reaction.J Vis Exp2022
35224470Coagulation factor V is a T-cell inhibitor expressed by leukocytes in COVID-19.iScience2022
34791078High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.Brain2022
32464705Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress.Neuropathol Appl Neurobiol2021
33883237[[11]C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease.Neurology2021
33764554Editorial: Mitochondrial medicine special issue.J Inherit Metab Dis2021
33752678Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.Orphanet J Rare Dis2021
33727253Isolated homozygous R217X <i>OPTN</i> mutation causes knock-out of functional C-terminal optineurin domains and associated oligodendrogliopathy-dominant ALS-TDP.J Neurol Neurosurg Psychiatry2021
34850165Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues.Nucleic Acids Res2021
34878831Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission.Sci Adv2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34732400Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.BMJ2021
34428295MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.Nucleic Acids Res2021
34426706Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases.Nat Med2021
34475388Cell reprogramming shapes the mitochondrial DNA landscape.Nat Commun2021
33990696Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro.Commun Biol2021
34031572Biparental inheritance of mitochondrial DNA revisited.Nat Rev Genet2021
34002094An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.Nat Genet2021
32989265Extreme heterogeneity of human mitochondrial DNA from organelles to populations.Nat Rev Genet2021
31600844Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.Clin Genet2020
31778245Effects of thyroid hormone on mitochondria and metabolism of human preimplantation embryos.Stem Cells2020
31955222Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.Acta Neuropathol2020
32040566Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.Brain2020
32107855Metabolic effects of bezafibrate in mitochondrial disease.EMBO Mol Med2020
33454000Visualizing, quantifying, and manipulating mitochondrial DNA in vivo.J Biol Chem2020
33128823Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.EMBO J2020
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Collaborators

Newcastle University
Co-authored papers 131
School of Clinical Medicine, University of Cambridge
Co-authored papers 119
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 110
University of Cambridge
Co-authored papers 83
Population Health Sciences Institute, Newcastle University
Co-authored papers 42
Vanderbilt University
Co-authored papers 38
Newcastle University
Co-authored papers 36
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 35
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 31
University of Cambridge
Co-authored papers 27
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 26
Maastricht University Medical Centre+
Co-authored papers 12
Translational and clinical research, Newcastle University Faculty of Medical Sciences
Co-authored papers 12
Unit Clinical Genomics, Maastricht University
Co-authored papers 12
Institute of Neurology, University College London (UCL)
Co-authored papers 11
Institute of Genetic Medicine, International Centre for Life
Co-authored papers 10
UCL Queen Square Institute of Neurology
Co-authored papers 10
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John Van Geest Center for Brain Repair, University of Cambridge
Co-authored papers 9
UCL Great Ormond Street Institute of Child Health
Co-authored papers 9
Broad Institute of MIT and Harvard
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Queen Square Institute of Neurology, University College London
Co-authored papers 8
Alder Hey Children's NHS Foundation Trust
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