Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants
MitoPhen v2 enabled systematic, genotype-aware analysis of heterogeneous PMD phenotypes and highlighted the diagnostic value of structured, individual-level data. Phenotype-similarity metrics from such data sets can refine variant interpretation in large rare-disease cohorts and provide a transferable framework for other phenotypically complex genetic disorders.
Authors
- Rachael Piper
- Siddharth Ramanan
- Katherine R. Schon (ORCID: https://orcid.org/0000-0001-8054-8954)
- Patrick Francis Chinnery (ORCID: https://orcid.org/0000-0002-7065-6617)
- Christopher Gilmartin (ORCID: https://orcid.org/0000-0001-5845-9429)
- Emogene Shaw (ORCID: https://orcid.org/0000-0002-2126-8458)
- Rita Horváth (ORCID: https://orcid.org/0000-0002-9841-170X)
- Nour M. Elkhateeb (ORCID: https://orcid.org/0000-0002-3076-3178)
- Thiloka Ratnaike (ORCID: https://orcid.org/0000-0001-5400-104X)
- Angela Lochmüller (ORCID: https://orcid.org/0009-0001-3763-5881)
- Raja Narayanan (ORCID: https://orcid.org/0000-0001-9688-5859)
- Eszter Sára Arany
- Jenny F. Yang
- M.Eren Kule
- Manya Mirchandani (ORCID: https://orcid.org/0000-0003-2564-1042)
Institutions
- University of Cambridge (GB)
- University Hospitals Bristol NHS Foundation Trust (GB)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- Cambridge School (PT)
- Costello Medical Consulting (United Kingdom) (GB)
- Newcastle University (GB)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2025-10-25
- DOI
- https://doi.org/10.1016/j.gim.2025.101620
- Citations
- 2
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 1.61