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D-Index & Metrics

Genetics

D-Index
75
Citations
35725
World Ranking
1867
National Ranking
234

Overview

Joanna Poulton is affiliated with the University of Oxford in the United Kingdom and has contributed extensively to research primarily in Biochemistry, Genetics, and Molecular Biology, as well as Medicine. Their scientific work has a particular focus on mitochondrial function and pathology, metabolism and genetic disorders, ATP synthase and ATPases research, autophagy in disease and therapy, RNA modifications and cancer, renal diseases and glomerulopathies, and vasculitis and related conditions.

Their publication record includes studies across various respected venues, with notable frequency in UNC Libraries, bioRxiv (Cold Spring Harbor Laboratory), Journal of the American Society of Nephrology, Brain, and Journal of Clinical Investigation.

Frequent co-authors collaborating with Joanna Poulton include Gang Xi, Mark Peifer, Ronald J. Falk, Carl Fratter, and Evan Zeitler, reflecting a diverse network of recurring research partnerships.

Recent published papers highlight a focus on mitochondrial and neurological conditions and include the following:

  • Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy, 2020, Journal of Neuro-Ophthalmology
  • Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations, 2020, Human Molecular Genetics
  • Acetyl-leucine slows disease progression in lysosomal storage disorders, 2020, Brain Communications
  • Forecasting stroke-like episodes and outcomes in mitochondrial disease, 2021, Brain
  • OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy, 2022, Journal of Clinical Investigation

Their main fields of study are divided into Biochemistry, Genetics and Molecular Biology with 76 publications, and Medicine with 60 publications. Within these broad fields, their subfields of study include Molecular Biology, Cell Biology, Clinical Biochemistry, Genetics, and Physiology.

  • Molecular Biology
  • Cell Biology
  • Clinical Biochemistry
  • Genetics
  • Physiology

  • Mitochondrial Function and Pathology
  • Metabolism and Genetic Disorders
  • ATP Synthase and ATPases Research
  • Autophagy in Disease and Therapy
  • RNA modifications and cancer
  • Renal Diseases and Glomerulopathies
  • Vasculitis and related conditions

Joanna Poulton's broad and interdisciplinary research work spans from molecular and cellular mechanisms to clinical applications, particularly in the context of genetic and mitochondrial diseases.

Best Publications

  • Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

    Daniel J. Klionsky;Amal Kamal Abdel-Aziz;Sara Abdelfatah;Mahmoud Abdellatif

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

    Johannes N. Spelbrink;Fang Yuan Li;Valeria Tiranti;Kaisu Nikali

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Leber Hereditary Optic Neuropathy: Identification of the Same Mitochondrial ND1 Mutation in Six Pedigrees

    N Howell;L A Bindoff;D A McCullough;I Kubacka

  • Evidence for 28 genetic disorders discovered by combining healthcare and research data

    J Kaplanis;K E Samocha;L Wiel;Z Zhang

  • Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

    D A Mackey;R J Oostra;T Rosenberg;E Nikoskelainen

  • Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.

    Tobias B. Haack;Katharina Danhauser;Birgit Haberberger;Jonathan Hoser

  • Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

    Henna Tyynismaa;Hiroshi Sembongi;Monika Bokori-Brown;Caroline Granycome

  • Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Decrease of 3243 A→G mtDNA Mutation from Blood in MELAS Syndrome: A Longitudinal Study

    S. Rahman;J. Poulton;D. Marchington;A. Suomalainen

  • Risk of developing a mitochondrial DNA deletion disorder

    Patrick F Chinnery;Salvatore DiMauro;Sara Shanske;Eric A Schon

  • Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

    Víctor Faundes;Víctor Faundes;William G. Newman;Laura Bernardini;Natalie Canham

  • Duplications of mitochondrial DNA in mitochondrial myopathy.

    Joanna Poulton;MaryE. Deadman;R. Mark Gardiner

  • Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case–control study

    Joanna Poulton;Jian'an Luan;Vincent Macaulay;Susie Hennings

  • Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

    Robert K. Naviaux;William L. Nyhan;Bruce A. Barshop;Joanna Poulton

  • Clinical and Molecular Genetic Analysis of 19 Wolfram Syndrome Kindreds Demonstrating a Wide Spectrum of Mutations in WFS1

    Carol Hardy;Farhat Khanim;Rosarelis Torres;Rosarelis Torres;Martin Scott-Brown

  • Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility

    Anja T. Rovio;David R. Marchington;Susanne Donat;Hans Christian Schuppe

  • Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.

    L A Bindoff;N Howell;J Poulton;D A McCullough

  • The insulin gene VNTR, type 2 diabetes and birth weight

    Ken K.L. Ong;David I. Phillips;Caroline Fall;Jo Poulton

Frequent Co-Authors

Robert W. Taylor
Robert W. Taylor Newcastle University
Massimo Zeviani
Massimo Zeviani University of Padua
Douglass M. Turnbull
Douglass M. Turnbull Newcastle University
Robert McFarland
Robert McFarland Newcastle University
Michael G. Hanna
Michael G. Hanna University College London
Patrick F. Chinnery
Patrick F. Chinnery University of Cambridge
Emma L. Blakely
Emma L. Blakely Newcastle University
Rita Horvath
Rita Horvath University of Cambridge
Charlotte L. Alston
Charlotte L. Alston Newcastle University
Shamima Rahman
Shamima Rahman University College London

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