Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Sarah L. Stenton(Broad Institute), Frederic Tort(Instituto de Salud Carlos III), Ralf A. Husain, Masaru Shimura(Helmholtz Munich), Riccardo Berutti(Helmholtz Zentrum München), Theresa Brunet(Helmholtz Zentrum München), Tobias B. Haack(Technical University of Munich), Anna Ardissone(Fondazione IRCCS Istituto Neurologico Carlo Besta), Dmitrii Smirnov(Helmholtz Munich), Vassiliki Konstantopoulou(Medical University of Vienna), Mirjana Gušić(Helmholtz Zentrum München), Thomas Klopstock(Ludwig-Maximilians-Universität München), Akira Ohtake(Saitama Medical University), Rikke Katrine Jentoft Olsen(Aarhus University Hospital), Wolfgang Müller‐Felber(Ludwig-Maximilians-Universität München), Ewa Pronicka(Children's Memorial Health Institute), Daniela Karall(Innsbruck Medical University), Angela Pyle(Wellcome Centre for Mitochondrial Research), Wolfgang Sperl(Paracelsus Medical University), Gerard Muñoz‐Pujol(Centre for Biomedical Network Research on Rare Diseases), Bader Alhaddad(Helmholtz Zentrum München), Urania Kotzaeridou(Heidelberg University), Ivo Barić(University Hospital Centre Zagreb), Markus Schuelke(Humboldt-Universität zu Berlin), Robert McFarland(Wellcome Centre for Mitochondrial Research), Dorota Piekutowska‐Abramczuk(Children's Memorial Health Institute), Elżbieta Ciara(Children's Memorial Health Institute), Peter Freisinger(TUM Klinikum), Charlotte L. Alston(Newcastle upon Tyne Hospitals NHS Foundation Trust), Boriana Büchner(Ludwig-Maximilians-Universität München), Maja Hempel(Helmholtz Zentrum München), Yasushi Okazaki(Saitama Medical University), Daniele Ghezzi(University of Milan), Dariusz Rokicki(Children's Memorial Health Institute), Johannes A. Mayr(Paracelsus Medical University), Dasha Deen(Wellcome Centre for Mitochondrial Research), Antònia Ribes(Instituto de Salud Carlos III), Dominic Lenz(Heidelberg University), René Santer(Universität Hamburg), Robert Kopajtich(Helmholtz Zentrum München), Albert Z. Lim(Wellcome Centre for Mitochondrial Research), Steffen Liez(München Klinik), Rui Ban(Capital Medical University), Hanna Mandel(Rebecca Sieff Hospital), Christine Makowski(Technical University of Munich), Stefan Kölker(Heidelberg University), Felix Dıstelmaıer(Heinrich Heine University Düsseldorf), Julien Gagneur(Helmholtz Zentrum München), Tim M. Strom(Ludwig-Maximilians-Universität München), Manuel Schiff(Délégation Paris 5)
medRxiv
June 25, 2021
Cited by 11


Related Papers