Chinnery, Patrick F.

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

Andrews, R. M., Kubacka, I., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M., & Howell, N. (1999) · Nature Genetics

Forensic and Genetic ResearchGenomics and Phylogenetic Studies

Cited by 3,337

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts infectivity and fusogenicity

Meng, B., Abdullahi, A., Ferreira, I. A. T. M., Goonawardane, N., Saito, A., Kimura, I., Yamasoba, D., Gerber, P. P., Fatihi, S., Rathore, S., et al. (2022) · Nature

SARS-CoV-2 and COVID-19 ResearchCOVID-19 Clinical Research Studies

Cited by 1,146

A Unique Gene Regulatory Network Resets the Human Germline Epigenome for Development

Tang, W. W. C., Dietmann, S., Irie, N., Leitch, H. G., Floros, V. I., Bradshaw, C. R., Hackett, J. A., Chinnery, P. F., & Surani, M. A. (2015) · Cell

Epigenetics and DNA MethylationPluripotent Stem Cells Research

Cited by 670

Mitochondrial optic neuropathies—Disease mechanisms and therapeutic strategies

Yu-Wai-Man, P., Griffiths, P. G., & Chinnery, P. F. (2011) · Progress in Retinal and Eye Research

Mitochondrial Function and PathologyGlaucoma and retinal disorders

Cited by 633

A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy.

Klopstock, T., Yu-Wai-Man, P., Dimitriadis, K., Rouleau, J., Heck, S., Bailie, M., Atawan, A., Chattopadhyay, S., Schubert, M., Garip, A., et al. (2011) · Brain

Neuroprotection in Cerebral IschemiaMitochondrial Function and Pathology

Cited by 578

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., et al. (2001) · Nature Genetics

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 537

Mitochondrial DNA mutations in human colonic crypt stem cells

Taylor, R. W., Barron, M. J., Borthwick, G. M., Gospel, A., Chinnery, P. F., Samuels, D. C., Taylor, G. A., Plusa, S. M., Needham, S. J., Greaves, L. C., et al. (2003) · Journal of Clinical Investigation

Mitochondrial Function and PathologyForensic and Genetic Research

Cited by 530

Leber hereditary optic neuropathy

Man, P. Y. W., Turnbull, D. M., & Chinnery, P. F. (2002) · Journal of Medical Genetics

Mitochondrial Function and PathologyGlaucoma and retinal disorders

Cited by 520

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Robak, L. A., Jansen, I. E., van Rooij, J., Uitterlinden, A. G., Kraaij, R., Jankovic, J., Heutink, P., Shulman, J. M., International Parkinson’s Disease Genomics Consortium (IPDGC), Nalls, M. A., et al. (2017) · Brain

Lysosomal Storage Disorders ResearchParkinson's Disease Mechanisms and Treatments

Cited by 433

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance

Hudson, G., Amati-Bonneau, P., Blakely, E. L., Stewart, J. D., He, L., Schaefer, A. M., Griffiths, P. G., Ahlqvist, K., Suomalainen, A., Reynier, P., et al. (2008) · Brain

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 428

Mitochondrial genetics

Chinnery, P. F., & Hudson, G. (2013) · British Medical Bulletin

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 395

Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age

Elson, J. L., Samuels, D. C., Turnbull, D. M., & Chinnery, P. F. (2001) · The American Journal of Human Genetics

Mitochondrial Function and PathologyEvolution and Genetic Dynamics

Cited by 340

Mitochondrial dysfunction in aging: Much progress but many unresolved questions

Payne, B. A. I., & Chinnery, P. F. (2015) · Biochimica et Biophysica Acta (BBA) - Bioenergetics

Mitochondrial Function and PathologyGenetics, Aging, and Longevity in Model Organisms

Cited by 335

Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids

Taylor, R. W., Chinnery, P. F., Turnbull, D. M., & Lightowlers, R. N. (1997) · Nature Genetics

Mitochondrial Function and PathologyDNA and Nucleic Acid Chemistry

Cited by 249

Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia

Longley, M. J., Clark, S., Yu Wai Man, C., Hudson, G., Durham, S. E., Taylor, R. W., Nightingale, S., Turnbull, D. M., Copeland, W. C., & Chinnery, P. F. (2006) · The American Journal of Human Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 248

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation

Chinnery, P. F., Crompton, D. E., Birchall, D., Jackson, M. J., Coulthard, A., Lombes, A., Quinn, N., Wills, A., Fletcher, N., Mottershead, J. P., et al. (2006) · Brain

Neurological diseases and metabolismParkinson's Disease Mechanisms and Treatments

Cited by 205

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

Matthews, E., Labrum, R., Sweeney, M. G., Sud, R., Haworth, A., Chinnery, P. F., Meola, G., Schorge, S., Kullmann, D. M., Davis, M. B., et al. (2009) · Neurology

Ion channel regulation and functionCardiac electrophysiology and arrhythmias

Cited by 201

Random genetic drift determines the level of mutant mtDNA in human primary oocytes

Brown, D. T., Samuels, D. C., Michael, E. M., Turnbull, D. M., & Chinnery, P. F. (2001) · The American Journal of Human Genetics

Mitochondrial Function and PathologyForensic and Genetic Research

Cited by 196

Locating the stem cell niche and tracing hepatocyte lineages in human liver #

Fellous, T. G., Islam, S., Tadrous, P. J., Elia, G., Kocher, H. M., Bhattacharya, S., Mears, L., Turnbull, D. M., Taylor, R. W., Greaves, L. C., et al. (2009) · Hepatology

Liver physiology and pathologyMesenchymal stem cell research

Cited by 157

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Boczonadi, V., Müller, J. S., Pyle, A., Munkley, J., Dor, T., Quartararo, J., Ferrero, I., Karcagi, V., Giunta, M., Polvikoski, T., et al. (2014) · Nature Communications

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 149

Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases

Hudson, G., Gomez-Duran, A., Wilson, I. J., & Chinnery, P. F. (2014) · PLoS Genetics

Genetic Associations and EpidemiologyMitochondrial Function and Pathology

Cited by 148

Analysis of European mtDNAs for Recombination

Elson, J. L., Andrews, R. M., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M., & Howell, N. (2001) · The American Journal of Human Genetics

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 142

Mitochondrial disease in adults: what's old and what's new?

Chinnery, P. F. (2015) · EMBO Molecular Medicine

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 133

Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations

Pfeffer, G., Burke, A., Yu-Wai-Man, P., Compston, D. A. S., & Chinnery, P. F. (2013) · Neurology

Multiple Sclerosis Research StudiesMitochondrial Function and Pathology

Cited by 122