Katherine R Schon (Katherine Schon, K Schon)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 12

Top Topics

Circulating Tumor

Muscular Dystrophy

Top Venues

BMJ neurology open

Brain : a journal of neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Fei Gao, Katherine R Schon, Jana Vandrovcova, Lindsay Wilson, Michael G Hanna, null null, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations. Annals of clinical and translational neurology (2024)
Thiloka E Ratnaike, Nour Elkhateeb, Angela Lochmüller, Christopher Gs Gilmartin, Katherine R Schon, Rita Horvath, Patrick F Chinnery
Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis. BMJ neurology open 6 (1) (2024)
Thiloka E Ratnaike, Nour Elkhateeb, Angela Lochmüller, Christopher Gs Gilmartin, Katherine R Schon, Rita Horvath, Patrick F Chinnery
Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis. BMJ neurology open 6 (1) (2024)
Lindsay A Wilson, William L Macken, Luke D Perry, Christopher J Record, Katherine R Schon, Rodrigo Siqueira Soares Frezatti, Sharika V Raga, Kireshnee Naidu, Özlem Yayıcı Köken, Ipek Polat, Musambo M Kapapa, Natalia Dominik, Stephanie Efthymiou, Heba Morsy, Melissa Nel, Mahmoud R Fassad, Fei Gao, Krutik Patel, Maryke Schoonen, Michelle Bisschoff, Armand Vorster, Hallgeir Jonvik, Ronel Human, Elsa Lubbe, Malebo Nonyane, Seena Vengalil, Saraswati Nashi, Kosha Srivastava, Richard J L F Lemmers, Alisha Reyaz, Rinkle Mishra, Ana Töpf, Christina I Trainor, Elizabeth C Steyn, Amokelani C Mahungu, Patrick J van der Vliet, Ahmet Cevdet Ceylan, A Semra Hiz, Büşranur Çavdarlı, C Nur Semerci Gündüz, Gülay Güleç Ceylan, Madhu Nagappa, Karthik B Tallapaka, Periyasamy Govindaraj, Silvère M van der Maarel, Gayathri Narayanappa, Bevinahalli N Nandeesh, Somwe Wa Somwe, David R Bearden, Michelle P Kvalsund, Gita M Ramdharry, Yavuz Oktay, Uluç Yiş, Haluk Topaloğlu, Anna Sarkozy, Enrico Bugiardini, Franclo Henning, Jo M Wilmshurst, Jeannine M Heckmann, Robert McFarland, Robert W Taylor, Izelle Smuts, Francois Hendrikus van der Westhuizen, Claudia Ferreira Da Rosa Sobreira, Pedro José Tomaselli, Wilson Marques, Rohit Bhatia, Ashwin B Dalal, M V Padma Srivastava, Sireesha Yareeda, Atchayaram Nalini, Venugopalan Yamuna Vishnu, Kumarasamy Thangaraj, Volker Straub, Rita Horvath, Patrick F Chinnery, Robert D S Pitceathly, Francesco Muntoni, Henry Houlden, Jana Vandrovcova, Mary M Reilly, Michael G Hanna
Neuromuscular disease genetics in underrepresented populations: increasing data diversity. Brain : a journal of neurology (2023)
Katherine R Schon, Dominic G O'Donovan, Mayen Briggs, James B Rowe, Lokesh Wijesekera, Patrick F Chinnery, Jelle van den Ameele
Multisystem pathology in McLeod syndrome. Neuropathology : official journal of the Japanese Society of Neuropathology (2023)
Katherine R Schon, Patrick Chinnery
Reader Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis. Neurology 100 (1) (2022)
Katherine R Schon, Patrick Chinnery
Reader Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis. Neurology 100 (1) (2022)
Wei Wei, Katherine R Schon, Greg Elgar, Andrea Orioli, Melanie Tanguy, Adam Giess, Marc Tischkowitz, Mark J Caulfield, Patrick F Chinnery
Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes. Nature 611 (7934) (2022)
Katherine R Schon, Rita Horvath, Wei Wei, Claudia Calabrese, Arianna Tucci, Kristina Ibañez, Thiloka Ratnaike, Robert D S Pitceathly, Enrico Bugiardini, Rosaline Quinlivan, Michael G Hanna, Emma Clement, Emma Ashton, John A Sayer, Paul Brennan, Dragana Josifova, Louise Izatt, Carl Fratter, Victoria Nesbitt, Timothy Barrett, Dominic J McMullen, Audrey Smith, Charulata Deshpande, Sarah F Smithson, Richard Festenstein, Natalie Canham, Mark Caulfield, Henry Houlden, Shamima Rahman, Patrick F Chinnery, null null
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. BMJ (Clinical research ed.) 375 (2021)
Ana Töpf, Angela Pyle, Helen Griffin, Leslie Matalonga, Katherine R Schon, null null, null null, Albert Sickmann, Ulrike Schara-Schmidt, Andreas Hentschel, Patrick F Chinnery, Heike Kölbel, Andreas Roos, Rita Horvath
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). European journal of human genetics : EJHG 29 (9) (2021)
Katherine R Schon, E Rytina, J Drummond, J Simmonds, S Abbs, R Sandford, M Tischkowitz
Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting. Clinical and experimental dermatology 43 (4) (2018)
Katherine R Schon, Olivera Spasic-Boskovic, Kim Brugger, Tracey D Graves, Stephen Abbs, Soo-Mi Park, Gautam Ambegaonkar, Ruth Armstrong
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child. Neurogenetics 18 (1) (2017)