| Authors: |
Efthymiou S; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Leo CP; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA., Deng C; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA., Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Maroofian R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Lin R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Karagoz I; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Zhang K; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA., Kaiyrzhanov R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Scardamaglia A; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Owrang D; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany., Turchetti V; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Jahnke F; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Derrick AV; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK., Rees MI; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK; Faculty of Medicine & Health, Camperdown, University of Sydney, Sydney, NSW, Australia., Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan., Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan., Li C; McMaster University, 1280 Main St W, Hamilton, ON L8S 4L8, Canada., Jacquemont ML; Unité de Génétique Médicale et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de la Réunion, Saint-Pierre, France., Tran-Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; INSERM UMR1231 GAD, F-21000 Dijon, France., Valenzuela-Palafoll M; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA., Yoon G; Hospital for Sick Children, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada., Morrow MM; GeneDx, LLC, Gaithersburg, MD 20877, USA., Carere DA; GeneDx, LLC, Gaithersburg, MD 20877, USA., O'Connor M; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA., Fleischer J; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA., Gerkes EH; Department of Medical Genetics, University of Groningen and University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI, USA., Isidor B; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, Nantes, France; INSERM, CNRS, UNIV Nantes, L'institut du Thorax, Nantes, France., Rivier-Ringenbach C; Hôpital Nord-Ouest, Service de Neuropédiatrie, Villefranche sur Saône, France., Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; Laboratoire de Génétique, Hôpital Mercy, CHR Metz-Thionville, Metz, France., Kurul SH; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey; İzmir Biomedicine and Genome Center, Dokuz Eylül University Health Campus, İzmir, Turkey; İzmir International Biomedicine and Genome Institute, Dokuz Eylül University, İzmir, Turkey., Soydemir D; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey., Kara B; Division of Pediatric Neurology, Department of Pediatrics, Kocaeli University, Kocaeli, Turkey., Sunnetci-Akkoyunlu D; Department of Medical Genetics, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey., Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Koch-Hogrebe M; Vestische Kinder- und Jugendklinik Datteln, Abteilung für Neuropädiatrie, Datteln, Germany., Rahner N; MVZ Institute for Clinical Genetics and Tumor Genetics, Bonn, Germany., Thuresson AC; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden., Matsson H; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden., Frykholm C; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden., Bozdoğan ST; VariantGen Genetic Diagnosis, Treatment, and Healthcare Center, Adana, Turkey., Bisgin A; Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Adana, Turkey; VariantGen Genetic Diagnosis, Treatment, and Healthcare Center, Adana, Turkey., Chatron N; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France., Lesca G; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France., Cabet S; Pediatric, Woman and Fetal Imaging Department, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, 69500 Bron, France; Institut NeuroMyoGène, CNRS UMR5292, INSERM U1028, Claude Bernard Lyon 1 University, 69000 Lyon, France., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Hjortshøj TD; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Rønde G; Department of Paediatrics and Adolescent Medicine, University Hospital Herlev, Herlev, Denmark., Marquardt T; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany., Reunert J; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany., Afzal E; Department of Developmental and Behavioral Pediatrics, Children's Hospital and Institute of Child Health, Multan, Punjab 60000, Pakistan., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Nourbakhsh P; Department of Neurology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Chamanrou N; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Chung SK; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK; Brain & Mind Centre, Faculty of Medicine & Health, Camperdown, University of Sydney, Sydney, NSW, Australia; Kids Research, Children's Hospital at Westmead, Sydney, NSW, Australia., Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, NG5 1PB, UK., Benke PJ; Department of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Gleeson JG; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA, USA., Calame DG; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Pehlivan D; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Yilmaz HI; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey., Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey., Rad A; Arcensus GmbH, Rostock, Germany., Abumansour IS; Neurogenetic Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Department of Pediatrics, International Medical Center, Jeddah, Saudi Arabia., Oprea G; Arcensus GmbH, Rostock, Germany., Bereketoğlu MB; Ege University Hospital, Department of Medical Genetics, İzmir 35100, Turkey., Banneau G; Department of Clinical Genetics, CHU Toulouse, Toulouse, France., Julia S; Department of Clinical Genetics, CHU Toulouse, Toulouse, France., Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Ashoori S; Department of Dermatology, School of Medicine, Jundishapur University of Medical Sciences, Ahvaz, Iran., Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Health Research Institute, Diabetes Research Center, Jundishapur University of Medical Sciences, Ahvaz, Iran., Sabri A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran., Parvas S; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Tajudin TA; KPJ Puteri Specialist Hospital, Hospital Sultan Ismail Johor, Johor Bahru, Malaysia., Abdullah U; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi 46301, Pakistan., Baig SM; National Institute for Biotechnology and Genetic Engineering College (NIBGE-C), Faisalabad, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan., Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Glazunova OO; IHU Méditerranée Infection, 19-21 boulevard Jean Moulin, 13005 Marseille, France., Sabine S; IHU Méditerranée Infection, 19-21 boulevard Jean Moulin, 13005 Marseille, France., Cheema HA; Department of Pediatric Gastroenterology, Hepatology and Genetic Diseases, Children's Hospital and University of Child Health Sciences, Lahore, Pakistan., Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Sidpra J; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London, UK., Mankad K; Department of Radiology, Great Ormond Street Hospital for Children, London, UK., Vona B; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany., Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XW, UK., Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Houlden H; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk., Fu D; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA. Electronic address: dragonyfu@rochester.edu. |
