|
|||||
|
|
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study |
|
| Authors: | Michael Zech MD Robert Jech MD PhD Sylvia Boesch MD Matej Škorvánek MD PhD Ján Necpál MD Jana Švantnerová MD Matias Wagner MD Ariane Sadr-Nabavi PhD Felix Distelmaier MD Martin Krenn MD PhD Tereza Serranová MD PhD Irena Rektorová MD PhD Petra Havránková MD PhD Alexandra Mosejová MD Iva Příhodová MD PhD Jana Šarláková MD Kristína Kulcsarová MD Olga Ulmanová MD PhD Karel Bechyně MD Miriam Ostrozovičová MD Vladimír Haň MD PhD Joaquim Ribeiro Ventosa MD Theresa Brunet MD Riccardo Berutti PhD Mohammad Shariati MD Ali Shoeibi MD Susanne A. Schneider MD Alice Kuster MD Matthias Baumann MD David Weise MD Friederike Wilbert MD Wibke G. Janzarik MD Matthias Eckenweiler MD Volker Mall MD Bernhard Haslinger MD Steffen Berweck MD Juliane Winkelmann MD Konrad Oexle MD |
| Affiliation: | 1. Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany;2. Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic;3. Department of Neurology, Medical University Innsbruck, Innsbruck, Austria;4. Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic;5. Department of Neurology, Zvolen Hospital, Zvolen, Slovakia;6. Second Department of Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava, Bratislava, Slovakia;7. Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Department of Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Qaem Medical Center, Mashhad, Iran Academic Center for Education, Culture and Research (ACECR)-Khorasan Razavi, Mashhad, Iran;8. Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany;9. Institute of Human Genetics, Technical University of Munich, Munich, Germany Department of Neurology, Medical University of Vienna, Vienna, Austria;10. First Department of Neurology, Faculty of Medicine, St. Anne's University Hospital and CEITEC, Masaryk University, Brno, Czech Republic;11. Department of Neurology, University Hospital, Hradec Kralove, Czech Republic;12. Hospital Písek, Písek, Czech Republic;13. Institute of Human Genetics, Technical University of Munich, Munich, Germany;14. Department of Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Qaem Medical Center, Mashhad, Iran Academic Center for Education, Culture and Research (ACECR)-Khorasan Razavi, Mashhad, Iran;15. Department of Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Qaem Medical Center, Mashhad, Iran;16. Department of Neurology, Ludwig-Maximilians-University, Munich, Germany;17. Inborn Errors of Metabolism, Pediatric Intensive Care Unit, University Hospital of Nantes, Nantes, France;18. Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria;19. Klinik für Neurologie, Asklepios Fachklinikum Stadtroda, Stadtroda, Germany;20. Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany;21. Lehrstuhl für Sozialpädiatrie, Technische Universität München, Munich, Germany kbo-Kinderzentrum München, Munich, Germany;22. Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany;23. Ludwig Maximilian University of Munich, Munich, Germany Hospital for Neuropediatrics and Neurological Rehabilitation, Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Vogtareuth, Germany;24. Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany Institute of Human Genetics, Technical University of Munich, Munich, Germany Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany Munich Cluster for Systems Neurology (SyNergy), Munich, Germany These authors contributed equally to this work.;25. Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany Institute of Human Genetics, Technical University of Munich, Munich, Germany These authors contributed equally to this work. |
| Abstract: | |
| Keywords: | exome sequencing diagnostic yield dystonia prediction scoring algorithm rare disease |