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Department
  • Medical Genetics
    • School
  • Clinical Medicine
    • ORCID iDClick to view ORCID profile
    Research Theme Brains and Machines
    Research Focus

    Keywords

  • Genetic Disorders
  • Clinical Trials

    • Clinical Conditions

  • Genetic disorders

    • Equipment & Techniques

  • Randomised control trials

    • Back

    Dr Katherine Schon BM BCh MRCP PhD

    (she/her/hers)
    University Position
    Clinical Lecturer

    Interests

    I am a clinical geneticist with a subspecialist interest in neurogenetics and mitochondrial disorders. My aim is to improve the care of families with neurogenetic disease by decreasing the ‘diagnostic odyssey’, understanding the impact of these disorders in the population and contributing to clinical research into new treatments.

    Collaborators

    Cambridge
  • Patrick Chinnery
  • Jelle van den Ameele
  • Alexander Murley

    • Key Publications

    Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

    DOI: http://doi.org/10.1002/acn3.52141
    Journal: Ann Clin Transl Neurol
    E-pub date: 2 Aug 2024
    Authors: F Gao, KR Schon, J Vandrovcova, L Wilson, MG Hanna, B Çavdarlı, J Heckmann, PF Chinnery, R Horvath

    Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes.

    DOI: http://doi.org/10.1038/s41586-022-05288-7
    Journal: Nature
    E-pub date: 1 Nov 2022
    Authors: W Wei, KR Schon, G Elgar, A Orioli, M Tanguy, A Giess, M Tischkowitz, MJ Caulfield, PF Chinnery

    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

    DOI: http://doi.org/10.1136/bmj-2021-066288
    Journal: BMJ
    E-pub date: 3 Nov 2021
    Authors: KR Schon, R Horvath, W Wei, C Calabrese, A Tucci, K Ibañez, T Ratnaike, RDS Pitceathly, E Bugiardini, R Quinlivan, MG Hanna, E Clement, E Ashton, JA Sayer, P Brennan, D Josifova, L Izatt, C Fratter, V Nesbitt, T Barrett, DJ McMullen, A Smith, C Deshpande, SF Smithson, R Festenstein, N Canham, M Caulfield, H Houlden, S Rahman, PF Chinnery, Genomics England Research Consortium

    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

    Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

    DOI: http://doi.org/10.1002/ana.25394
    Journal: Ann Neurol
    E-pub date: 1 Feb 2019
    Authors: K Schon, NJH van Os, N Oscroft, H Baxendale, D Scoffings, J Ray, M Suri, WP Whitehouse, PR Mehta, N Everett, L Bottolo, BP van de Warrenburg, PJ Byrd, C Weemaes, MA Willemsen, M Tischkowitz, AM Taylor, AE Hensiek

    Publications

    Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.

    DOI: http://doi.org/10.3233/JND-240020
    Journal: J Neuromuscul Dis
    E-pub date: 1 Aug 2024
    Authors: C Olimpio, I Paramonov, L Matalonga, S Laurie, K Schon, K Polavarapu, J Kirschner, U Schara-Schmidt, H Lochmüller, PF Chinnery, R Horvath

    Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis

    DOI: http://doi.org/10.1136/bmjno-2024-000650
    Journal: BMJ Neurol Open
    E-pub date: 1 Aug 2024
    Authors: TE Ratnaike, N Elkhateeb, A Lochmüller, C Gilmartin, K Schon, R Horváth, PF Chinnery

    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

    Neuromuscular disease genetics in underrepresented populations: increasing data diversity.

    DOI: http://doi.org/10.1093/brain/awad254
    Journal: Brain
    E-pub date: 1 Dec 2023
    Authors: LA Wilson, WL Macken, LD Perry, CJ Record, KR Schon, RSS Frezatti, S Raga, K Naidu, ÖY Köken, I Polat, MM Kapapa, N Dominik, S Efthymiou, H Morsy, M Nel, MR Fassad, F Gao, K Patel, M Schoonen, M Bisschoff, A Vorster, H Jonvik, R Human, E Lubbe, M Nonyane, S Vengalil, S Nashi, K Srivastava, RJLF Lemmers, A Reyaz, R Mishra, A Töpf, CI Trainor, EC Steyn, AC Mahungu, PJ van der Vliet, AC Ceylan, AS Hiz, B Çavdarlı, CN Semerci Gündüz, GG Ceylan, M Nagappa, KB Tallapaka, P Govindaraj, SM van der Maarel, G Narayanappa, BN Nandeesh, S Wa Somwe, DR Bearden, MP Kvalsund, GM Ramdharry, Y Oktay, U Yiş, H Topaloğlu, A Sarkozy, E Bugiardini, F Henning, JM Wilmshurst, JM Heckmann, R McFarland, RW Taylor, I Smuts, FH van der Westhuizen, CFDR Sobreira, PJ Tomaselli, W Marques, R Bhatia, A Dalal, MVP Srivastava, S Yareeda, A Nalini, VY Vishnu, K Thangaraj, V Straub, R Horvath, PF Chinnery, RDS Pitceathly, F Muntoni, H Houlden, J Vandrovcova, MM Reilly, MG Hanna

    An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.

    DOI: http://doi.org/10.1101/2023.08.03.551473
    Journal:
    E-pub date: 9 Aug 2023
    Authors: B Nmezi, GR Bey, TD Oranburg, K Dudnyk, SM Lardo, N Herdman, A Jacko, S Rubio, EL Alcocer, J Kofler, D Kim, J Rankin, E Kivuva, N Gutowski, K Schon, J van den Ameele, PF Chinnery, SB Sousa, F Palavra, C Toro, F Pinto E Vairo, J Saute, L Pan, M Alturkustani, R Hammond, F Gros-Louis, M Gold, Y Park, G Bernard, R Raininko, J Zhou, SJ Hainer, QS Padiath

    Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.

    DOI: http://doi.org/10.3389/fneur.2023.1292320
    Journal: Front Neurol
    E-pub date: 1 Aug 2023
    Authors: TC Major, ES Arany, K Schon, M Simo, V Karcagi, J van den Ameele, P Yu Wai Man, PF Chinnery, C Olimpio, R Horvath

    Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.

    DOI: http://doi.org/10.1002/cam4.6075
    Journal: Cancer Med
    E-pub date: 1 Jul 2023
    Authors: R Neves, B De Dios Perez, R Panek, S Jagani, S Wilne, JM Bhatt, C Caputi, E Cirillo, DJ Coman, G Dückers, DL Gilbert, M Kay Koenig, L Mansour, E McDermott, M Pauni, C Pignata, SL Perlman, O Porras, M Betina Porto, K Schon, P Soler-Palacin, S Nick Russo, M Takagi, M Tischkowitz, C Wainwright, M Dandapani, C Glazebrook, M Suri, WP Whitehouse, RA Dineen

    Whole-genome sequencing for mitochondrial disorders identifies unexpected mimics.

    DOI: http://doi.org/10.1136/pn-2022-003570
    Journal: Pract Neurol
    E-pub date: 1 Feb 2023
    Authors: KR Schon, PF Chinnery

    Reader Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.

    DOI: http://doi.org/10.1212/WNL.0000000000201676
    Journal: Neurology
    E-pub date: 3 Jan 2023
    Authors: K Schon, P Chinnery

    High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

    DOI: http://doi.org/10.1093/brain/awab395
    Journal: Brain
    E-pub date: 24 May 2022
    Authors: S Hiz Kurul, Y Oktay, A Töpf, NZ Szabó, S Güngör, A Yaramis, E Sonmezler, L Matalonga, U Yis, K Schon, I Paramonov, İP Kalafatcilar, F Gao, A Rieger, N Arslan, E Yilmaz, B Ekinci, PP Edem, M Aslan, B Özgör, A Lochmüller, A Nair, E O'Heir, AK Lovgren, Broad Center for Mendelian Genomics, R Maroofian, H Houlden, K Polavarapu, A Roos, JS Müller, D Hathazi, PF Chinnery, S Laurie, S Beltran, H Lochmüller, R Horvath

    Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.

    DOI: http://doi.org/10.1136/jmedgenet-2020-107237
    Journal: J Med Genet
    E-pub date: 1 Apr 2022
    Authors: I Drissi, E Fletcher, R Shaheen, M Nahorski, AM Alhashem, S Lisgo, A Fernández-Jaén, K Schon, K Tlili-Graiess, SF Smithson, S Lindsay, H J Sharpe, FS Alkuraya, G Woods

    White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia.

    DOI: http://doi.org/10.1212/NXG.0000000000000640
    Journal: Neurol Genet
    E-pub date: 1 Dec 2021
    Authors: MY Tiet, S Nannoni, D Scoffings, K Schon, R Horvath, HS Markus, AE Hensiek

    Mapping the human genetic architecture of COVID-19.

    DOI: http://doi.org/10.1038/s41586-021-03767-x
    Journal: Nature
    E-pub date: 1 Dec 2021
    Authors: COVID-19 Host Genetics Initiative

    Whole genome sequencing helps pinpoint a genetic diagnosis for patients.

    DOI: http://doi.org/10.1136/bmj.n2680
    Journal: BMJ
    E-pub date: 3 Nov 2021
    Authors: K Schon

    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

    Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).

    DOI: http://doi.org/10.1038/s41431-021-00851-8
    Journal: Eur J Hum Genet
    E-pub date: 1 Sep 2021
    Authors: A Töpf, A Pyle, H Griffin, L Matalonga, K Schon, Solve-RD SNV-indel working group, Solve-RD DITF-euroNMD, A Sickmann, U Schara-Schmidt, A Hentschel, PF Chinnery, H Kölbel, A Roos, R Horvath

    An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.

    DOI: http://doi.org/10.1038/s41588-021-00868-1
    Journal: Nat Genet
    E-pub date: 1 Jul 2021
    Authors: E Yonova-Doing, C Calabrese, A Gomez-Duran, K Schon, W Wei, S Karthikeyan, PF Chinnery, JMM Howson

    A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.

    DOI: http://doi.org/10.1186/s13023-020-01493-7
    Journal: Orphanet J Rare Dis
    E-pub date: 12 Aug 2020
    Authors: A Atalaia, R Thompson, A Corvo, L Carmody, D Piscia, L Matalonga, A Macaya, A Lochmuller, B Fontaine, B Zurek, C Hernandez-Ferrer, C Reinhard, D Gómez-Andrés, J-F Desaphy, K Schon, K Lohmann, MJ Jennings, M Synofzik, O Riess, RB Yaou, T Evangelista, T Ratnaike, V Bros-Facer, G Gumus, R Horvath, P Chinnery, S Laurie, H Graessner, P Robinson, H Lochmuller, S Beltran, G Bonne

    Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.

    DOI: http://doi.org/10.1007/s00134-019-05552-x
    Journal: Intensive Care Med
    E-pub date: 1 May 2019
    Authors: CE French, I Delon, H Dolling, A Sanchis-Juan, O Shamardina, K Mégy, S Abbs, T Austin, S Bowdin, RG Branco, H Firth, NIHR BioResource—Rare Disease, Next Generation Children Project, DH Rowitch, FL Raymond

    Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.

    DOI: http://doi.org/10.1111/ced.13359
    Journal: Clin Exp Dermatol
    E-pub date: 1 Jun 2018
    Authors: K Schon, E Rytina, J Drummond, J Simmonds, S Abbs, R Sandford, M Tischkowitz

    Clinical implications of germline mutations in breast cancer: TP53.

    DOI: http://doi.org/10.1007/s10549-017-4531-y
    Journal: Breast Cancer Res Treat
    E-pub date: 1 Jan 2018
    Authors: K Schon, M Tischkowitz

    Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

    DOI: http://doi.org/10.1007/s10048-016-0504-2
    Journal: Neurogenetics
    E-pub date: 1 Jan 2017
    Authors: K Schon, O Spasic-Boskovic, K Brugger, TD Graves, S Abbs, S-M Park, G Ambegaonkar, R Armstrong