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Genetics

D-Index
71
Citations
17574
World Ranking
2201
National Ranking
275

Overview

Robert McFarland is affiliated with Newcastle University in the United Kingdom. Their research predominantly focuses on areas within Biochemistry, Genetics, and Molecular Biology, having contributed to 169 publications in these fields. Their work extends notably into Medicine, supporting 44 publications in this area.

The scientist's research spans various subfields including Molecular Biology, Clinical Biochemistry, Genetics, Neurology, and Cellular and Molecular Neuroscience. These subfields reflect their broad engagement with both fundamental and clinical aspects of biomedical science.

McFarland's main topics of study cover several aspects of mitochondrial biology and related disorders. These include:

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

Their recent papers highlight research on mitochondrial disease and autophagy, with notable publications including:

  • "Mitochondrial disease in adults: recent advances and future promise" (2021), published in The Lancet Neurology
  • "Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans" (2021), published in New England Journal of Medicine
  • "Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging" (2020), published in Genome Biology
  • "Current and Emerging Clinical Treatment in Mitochondrial Disease" (2021), published in Molecular Diagnosis & Therapy
  • "Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus" (2020), published in Journal of Inherited Metabolic Disease

McFarland has collaborated frequently with several researchers, notably including:

  • Robert W. Taylor
  • Gráinne S. Gorman
  • Yi Shiau Ng
  • Charlotte L. Alston
  • Douglass M. Turnbull

The scientist regularly publishes in prominent venues such as:

  • Brain
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine
  • New England Journal of Medicine
  • Journal of Inherited Metabolic Disease

Best Publications

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

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

  • Prevalence of mitochondrial DNA disease in adults

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

  • 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

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

    Patrick Yu-Wai-Man;Philip G. Griffiths;Philip G. Griffiths;G. Gorman;C.-M. Lourenco

  • Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene

    R Horvath;G Hudson;G Ferrari;N Futterer

  • Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

    Robert W. Taylor;Angela Pyle;Helen Griffin;Emma L. Blakely

  • A neurological perspective on mitochondrial disease

    Robert McFarland;Robert W Taylor;Douglass M Turnbull

  • 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

    Damian Smedley;Katherine R. Smith;Antonio Martin

  • The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management

    Victoria Nesbitt;Robert D S Pitceathly;Doug M Turnbull;Robert W Taylor

  • mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

    John P Grady;Sarah J Pickett;Yi Shiau Ng;Charlotte L Alston;Charlotte L Alston

  • An international classification of inherited metabolic disorders (ICIMD).

    Carlos R Ferreira;Shamima Rahman;Shamima Rahman;Markus Keller;Johannes Zschocke

  • Mutations of the mitochondrial ND1 gene as a cause of MELAS

    D. M. Kirby;D. M. Kirby;R. McFarland;A. Ohtake;A. Ohtake;C. Dunning

  • Mitochondrial disease - Its impact, etiology, and pathology

    R McFarland;RW Taylor;DM Turnbull

  • Mitochondrial tRNA mutations and disease.

    John W. Yarham;Joanna L. Elson;Emma L. Blakely;Robert McFarland

  • The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.

    Amy E. Vincent;Yi Shiau Ng;Kathryn White;Tracey Davey

  • A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations

    John W. Yarham;Mazhor Al-Dosary;Emma L. Blakely;Charlotte L. Alston

  • New treatments for mitochondrial disease—no time to drop our standards

    Gerald Pfeffer;Rita Horvath;Thomas Klopstock;Vamsi K. Mootha

  • Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

    Robert McFarland;Kim M. Clark;Andrew A.M. Morris;Robert W. Taylor

  • Assigning pathogenicity to mitochondrial tRNA mutations: when ‘definitely maybe’ is not good enough

    Robert McFarland;Joanna L. Elson;Robert W. Taylor;Neil Howell

  • Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary

    Salvatore Dimauro;Guido Davidzon;Michio Hirano;Rita Horvath

Frequent Co-Authors

Robert W. Taylor
Robert W. Taylor Newcastle University
Douglass M. Turnbull
Douglass M. Turnbull Newcastle University
Charlotte L. Alston
Charlotte L. Alston Newcastle University
Emma L. Blakely
Emma L. Blakely Newcastle University
Patrick F. Chinnery
Patrick F. Chinnery University of Cambridge
Rita Horvath
Rita Horvath University of Cambridge
Michael G. Hanna
Michael G. Hanna University College London
Joanna Poulton
Joanna Poulton University of Oxford
Holger Prokisch
Holger Prokisch Technical University of Munich
Laurence A. Bindoff
Laurence A. Bindoff Haukeland University Hospital

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