De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

Theresa Brunet(Helmholtz Zentrum München), Matias Wagner(Helmholtz Zentrum München), Hanna Zimmermann(München Klinik), Nikolaos M. Marinakis(National and Kapodistrian University of Athens), Sibylle Wilfling, Thomas Meitinger(Helmholtz Zentrum München), Sonja Trepels‐Kottek(Universitätsklinikum Aachen), Joanne Hughes(University of Manchester), Diana Ballhausen(University of Lausanne), Axel Schmidt(University of Bonn), Marcello Scala(Hospital for Sick Children), Philipp Peters(Ludwig-Maximilians-Universität München), Valeria Capra(Istituto Giannina Gaslini), Matthias Begemann(RWTH Aachen University), Miriam Elbracht(RWTH Aachen University), Mihaela Mihaljević(University Hospital Centre Zagreb), Alanna Strong(Children's Hospital of Philadelphia), Johannes Krämer(Universität Ulm), Joanne Traeger‐Synodinos(National and Kapodistrian University of Athens), Nina Barišić(University Hospital Centre Zagreb), Irina Hüning(University of Lübeck), Christian Apitz, Ivo Barić(University Hospital Centre Zagreb), Robert McFarland(Wellcome Centre for Mitochondrial Research), Holger Prokisch(Helmholtz Zentrum München), Ingo Borggraefe(Ludwig-Maximilians-Universität München), Federico Zara(Istituto Giannina Gaslini), Neal Sondheimer(Hospital for Sick Children), Anita Devlin(University College London), Juliane Spiegler(Universitätsklinikum Würzburg), Alyssa Bianzano(Heidelberg University), Konstantina Kosma(National and Kapodistrian University of Athens), Johannes A. Mayr(Paracelsus Medical University), Deborah Watson(University of San Diego), Dominic Lenz(Heidelberg University), Lucia Gerstl(Ludwig-Maximilians-Universität München), Dimah Hasan(RWTH Aachen University), Marco Paolini(Ludwig-Maximilians-Universität München), Christian Staufner(University Hospital Heidelberg), Robert Kopajtich(Helmholtz Zentrum München), Håkon Håkonarson(Children's Hospital of Philadelphia), Meino Rohlfs, Malin Zaddach(Ludwig-Maximilians-Universität München), Robert W. Taylor(Charles Darwin University), Amelie T. van der Ven, Joenna Driemeyer(Universität Hamburg), Benedikt Zott(Center for Integrated Protein Science Munich), Stacy Hewson(University of Toronto), Victoria Lieftüchter(Ludwig-Maximilians-Universität München)
Genetics in Medicine
November 1, 2023
Cited by 14


Related Papers