Patrick F. Chinnery

Research interests

Publications

• Whole-genome sequencing of patients with rare diseases in a national health system

  Nature · 2020 · https://doi.org/10.1038/s41586-020-2434-2

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

  Brain · 2017 · 10.1093/brain/awx285

• Mitochondrial diseases

  Nature Reviews Disease Primers · 2016 · https://doi.org/10.1038/nrdp.2016.80

• The Human Phenotype Ontology in 2017

  Nucleic Acids Research · 2016 · https://doi.org/10.1093/nar/gkw1039

• Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

  The American Journal of Human Genetics · 2016 · 10.1016/j.ajhg.2016.12.003

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

  Cell · 2015 · 10.1016/j.cell.2015.04.053

• Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

  Annals of Neurology · 2015 · https://doi.org/10.1002/ana.24362

• The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease

  Nature Reviews Genetics · 2015 · https://doi.org/10.1038/nrg3966

• Disturbed mitochondrial dynamics and neurodegenerative disorders

  Nature Reviews Neurology · 2014 · 10.1038/nrneurol.2014.228

• Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

  eLife · 2014 · 10.7554/elife.02935

• A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies

  JAMA Neurology · 2013 · 10.1001/jamaneurol.2013.1925

• Treatment for mitochondrial disorders

  Cochrane Database of Systematic Reviews · 2012 · 10.1002/14651858.cd004426.pub3

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

  Brain · 2011 · 10.1093/brain/awr170

• Multi-system neurological disease is common in patients with OPA1 mutations

  Brain · 2010 · 10.1093/brain/awq007

• Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

  Progress in Retinal and Eye Research · 2010 · 10.1016/j.preteyeres.2010.11.002

• Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

  Nature · 2010 · 10.1038/nature08958

• Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

  Brain · 2009 · 10.1093/brain/awp236

• A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

  Nature Genetics · 2008 · 10.1038/ng.2007.63

• Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

  The American Journal of Human Genetics · 2008 · 10.1016/j.ajhg.2008.07.004

• Prevalence of mitochondrial DNA disease in adults

  Annals of Neurology · 2007 · 10.1002/ana.21217

• The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England

  The American Journal of Human Genetics · 2003 · 10.1086/346066

• Mitochondrial DNA mutations in human colonic crypt stem cells

  Journal of Clinical Investigation · 2003 · 10.1172/jci19435

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

  Nature Genetics · 2001 · 10.1038/ng571

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

  Nature Genetics · 1999 · 10.1038/13779

• Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

  Trends in Genetics · 1997 · 10.1016/s0168-9525(97)01266-3

Current projects

No projects listed.