Dr Katherine Schon BM BCh MRCP

University Position

Clinical Research Associate

Interests

I am doing clinical and genomic research supervised by Prof Patrick Chinnery and Prof Rita Horvath. I am interested in the use of whole genome sequencing to diagnose mitochondrial disorders. I am working with the 100 000 genomes dataset and with the International Centre for Genomic Medicine in Neuromuscular Diseases. I am funded by the Addenbrookes Charitable Trust and MRC ICGNMD. I am also interested in other neurogenic disorders including ataxia-telangiectasia.

Key Publications

Publications

Multisystem pathology in McLeod syndrome.

DOI: http://doi.org/10.1111/neup.12935
Journal: Neuropathology
E-pub date: 1 Apr 2024
Authors: KR Schon, DG O'Donovan, M Briggs, JB Rowe, L Wijesekera, PF Chinnery, J van den Ameele

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.

DOI: http://doi.org/10.1093/nar/gkab726
Journal: Nucleic Acids Res
E-pub date: 27 Sep 2021
Authors: TE Ratnaike, D Greene, W Wei, A Sanchis-Juan, KR Schon, J van den Ameele, L Raymond, R Horvath, E Turro, PF Chinnery

Mitochondrial Diseases: A Diagnostic Revolution.

DOI: http://doi.org/10.1016/j.tig.2020.06.009
Journal: Trends Genet
E-pub date: 1 Sep 2020
Authors: KR Schon, T Ratnaike, J van den Ameele, R Horvath, PF Chinnery