Concepedia

Mitochondrial Disease Testing

Mitochondrial Disease Testing is a diagnostic method designed to identify genetic mutations in mitochondrial DNA or nuclear genes affecting mitochondrial function, distinguishing it from other inherited disease tests by its focus on the mitochondria’s role in cellular energy production and maternally inherited genetic patterns.

120

Publications

7.7K

Citations

749

Authors

323

Institutions

Publications per year

2017–2026

26

Parents

Publications

120

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

Douglas C. Wallace, Gurparkash Singh, Marie T. Lott et al. · Science · 1988 · 2.4K citations

, , +17

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E. Calvo, Alison G. Compton, Steven G. Hershman et al. · Science Translational Medicine · 2012 · 474 citations

, , +15

Whole exome sequencing of suspected mitochondrial patients in clinical practice

Saskia B. Wortmann, David A. Koolen, Lambert den van Heuvel et al. · Journal of Inherited Metabolic Disease · 2015 · 243 citations · Full text

, , +12

Mitochondrial disease in adults: A scale to monitor progression and treatment

Andrew M. Schaefer, C. Phoenix, Joanna L. Elson et al. · Neurology · 2006 · 175 citations

, , +12

Simultaneous Detection and Quantification of Mitochondrial DNA Deletion(s), Depletion, and Over-Replication in Patients with Mitochondrial Disease

Renkui Bai, Lee‐Jun C. Wong · Journal of Molecular Diagnostics · 2005 · 152 citations · Full text

, , +16

1–5 of 120

Authors

749

  1. RW
    Robert W. Taylor

    Newcastle University, United Kingdom

    9 publications · 418 citations

    9

    h-index

  2. DM
    Douglass M. Turnbull

    Newcastle University, United Kingdom

    8 publications · 611 citations

    8

    h-index

  3. RM
    Robert McFarland

    Wellcome Centre for Mitochondrial Research, United Kingdom

    7 publications · 489 citations

    7

    h-index

  4. JP
    Joanna Poulton

    University of Oxford, United Kingdom

    6 publications · 261 citations

    6

    h-index

  5. PF
    Patrick F. Chinnery

    Newcastle University, United Kingdom

    5 publications · 449 citations

    5

    h-index

1–5 of 749

Institutions

323

  1. Newcastle University

    Newcastle upon Tyne, United Kingdom

    11 h-index

    51 publications

    3.7K citations

  2. Wellcome Centre for Mitochondrial Research

    Newcastle upon Tyne, United Kingdom

    10 h-index

    45 publications

    2.5K citations

  3. Radboud University Nijmegen

    Nijmegen, The Netherlands

    9 h-index

    32 publications

    1.7K citations

  4. Radboud University Medical Center

    Nijmegen, The Netherlands

    8 h-index

    31 publications

    1.6K citations

  5. The University of Melbourne

    Melbourne, Australia

    5 h-index

    27 publications

    2.6K citations

  6. Murdoch Children's Research Institute

    Melbourne, Australia

    5 h-index

    33 publications

    4.1K citations

  7. Children's Hospital of Philadelphia

    Philadelphia, United States

    5 h-index

    33 publications

    1.3K citations

  8. University of Pennsylvania

    Philadelphia, United States

    5 h-index

    21 publications

    894 citations

1–8 of 323

Venues

  1. Molecular Genetics and Metabolism

    7 publications · 264 citations

    7

    h-index

  2. Mitochondrion

    7 publications · 231 citations

    7

    h-index

  3. Journal of Inherited Metabolic Disease

    JIMD · 6 publications · 448 citations

    6

    h-index

  4. PubMed

    Repository · 5 publications · 218 citations

    5

    h-index

  5. Neurology

    4 publications · 314 citations

    4

    h-index

1–5