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Genetics
UK
2024
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Genetics and Molecular Biology
UK
2024

D-Index & Metrics

Genetics

D-Index
136
Citations
69766
World Ranking
212
National Ranking
41

Medicine

D-Index
139
Citations
72889
World Ranking
1759
National Ranking
183

Research.com Recognitions

  • 2024 - Research.com Genetics in United Kingdom Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in United Kingdom Leader Award
  • 2023 - Research.com Genetics in United Kingdom Leader Award

Overview

Patrick F. Chinnery is affiliated with the University of Cambridge in the United Kingdom. Their research spans multiple areas within biochemistry, genetics, molecular biology, and medicine, with particular focus on mitochondrial function and pathology, metabolism and genetic disorders, genomics and rare diseases, as well as genetic neurodegenerative diseases. The scientist's work also addresses topics such as RNA modifications and cancer, ATP synthase and ATPases research, and CRISPR and genetic engineering.

Chinnery has published extensively, with significant contributions to both basic and clinical research fields. They have contributed to 246 publications in biochemistry, genetics, and molecular biology, alongside 72 publications in medicine. Their more focused research areas include 149 publications in molecular biology, 48 in genetics, 43 in clinical biochemistry, 26 in neurology, and 18 in cellular and molecular neuroscience.

Frequently selected publication venues for Chinnery's work include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature Communications
  • Brain
  • Nature
  • Nature Medicine

Notable recent papers reflect a range of investigations in mitochondrial biology, genomics, and neurological disorders. These include:

  • Whole-genome sequencing of patients with rare diseases in a national health system, 2020, published in Nature
  • Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes, 2022, published in Nature
  • Extreme heterogeneity of human mitochondrial DNA from organelles to populations, 2020, published in Nature Reviews Genetics
  • Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion, 2020, published in Brain
  • Nuclear genetic control of mtDNA copy number and heteroplasmy in humans, 2023, published in Nature

Chinnery often collaborates with a core group of researchers, including Rita Horváth, Wei Wei, Katherine Schon, Mark J. Caulfield, and Henry Houlden, who have co-authored multiple publications with them.

The main research topics explored throughout Chinnery's career are:

  • Mitochondrial Function and Pathology
  • Metabolism and Genetic Disorders
  • Genomics and Rare Diseases
  • Genetic Neurodegenerative Diseases
  • RNA modifications and cancer
  • ATP Synthase and ATPases Research
  • CRISPR and Genetic Engineering

Best Publications

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

    Richard M. Andrews;Iwona Kubacka;Patrick F. Chinnery;Robert N. Lightowlers

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

    Gráinne S. Gorman;Andrew M. Schaefer;Yi Ng;Nicholas Gomez

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

    James B. Stewart;Patrick F. Chinnery

  • The Human Phenotype Ontology in 2017

    Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster

  • Mitochondrial DNA mutations in human colonic crypt stem cells

    Robert W. Taylor;Martin J. Barron;Gillian M. Borthwick;Amy Gospel

  • Prevalence of mitochondrial DNA disease in adults

    Andrew M. Schaefer;Robert McFarland;Emma L. Blakely;Langping He

  • Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

    Hannah R. Elliott;David C. Samuels;James A. Eden;Caroline L. Relton

  • Disturbed mitochondrial dynamics and neurodegenerative disorders

    Florence Burté;Valerio Carelli;Patrick F. Chinnery;Patrick Yu-Wai-Man

  • Leber hereditary optic neuropathy

    P Y W Man;D M Turnbull;D M Turnbull;P F Chinnery;P F Chinnery

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

    Walfred W.C. Tang;Walfred W.C. Tang;Sabine Dietmann;Naoko Irie;Naoko Irie;Harry G. Leitch

  • Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

    Patrick Yu-Wai-Man;Philip G. Griffiths;Philip G. Griffiths;Patrick F. Chinnery

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

    Andrew R.J. Curtis;Constanze Fey;Christopher M Morris;Laurence A. Bindoff

  • Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

    Robert N. Lightowlers;Patrick F. Chinnery;Douglass M. Turnbull;Neil Howell

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

    Fiona L. M. Norwood;Chris Harling;Patrick F. Chinnery;Michelle Eagle

  • The epidemiology of Leber hereditary optic neuropathy in the North East of England.

    P.Y.W. Man;P.G. Griffiths;D.T. Brown;N. Howell

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

    Lynsey M. Cree;David C. Samuels;Susana Chuva De Sousa Lopes;Harsha Karur Rajasimha

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

    Lyndsey Craven;Helen A. Tuppen;Gareth D. Greggains;Stephen J. Harbottle

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

    Gavin Hudson;Patrizia Amati-Bonneau;Emma L. Blakely;Joanna D. Stewart

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

    Thomas Klopstock;Patrick Yu-Wai-Man;Patrick Yu-Wai-Man;Konstantinos Dimitriadis;Jacinthe Rouleau

  • What causes mitochondrial DNA deletions in human cells

    Kim J Krishnan;Amy K Reeve;David C Samuels;Patrick F Chinnery

Frequent Co-Authors

Rita Horvath
Rita Horvath University of Cambridge
Douglass M. Turnbull
Douglass M. Turnbull Newcastle University
Robert W. Taylor
Robert W. Taylor Newcastle University
Patrick Yu-Wai-Man
Patrick Yu-Wai-Man University of Cambridge
Angela Pyle
Angela Pyle Newcastle University
Gavin Hudson
Gavin Hudson Newcastle University
Hanns Lochmüller
Hanns Lochmüller University of Freiburg
David C. Samuels
David C. Samuels Vanderbilt University
Robert McFarland
Robert McFarland Newcastle University
David J. Burn
David J. Burn Newcastle University

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