부산대학교 도서관

Jackson, A; Lin, SJ; Jones, EA; Chandler, KE; Orr, D; Moss, C; Haider, Z; Ryan, G; Holden, S; Harrison, M; Burrows, N; Jones, WD; Loveless, M; Petree, C; Stewart, H; Low, K; Donnelly, D; Lovell, S; Drosou, K; Ambrose, JC; Arumugam, P; Bevers, R; Bleda, M; Boardman-Pretty, F; Boustred, CR; Brittain, H; Brown, MA; Caulfield, MJ; Chan, GC; Giess, A; Griffin, JN; Hamblin, A; Henderson, S; Hubbard, TJP; Jackson, R; Jones, LJ; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Lakey, A; Leigh, SEA; Leong, IUS; Lopez, FJ; Maleady-Crowe, F; McEntagart, M; Minneci, F; Mitchell, J; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; O‘Donovan, P; Odhams, CA; Patch, C; Perez-Gil, D; Pereira, MB; Pullinger, J; Rahim, T; Rendon, A; Rogers, T; Savage, K; Sawant, K; Scott, RH; Siddiq, A; Sieghart, A; Smith, SC; Sosinsky, A; Stuckey, A; Tanguy, M; Taylor Tavares, AL; Thomas, ERA; Thompson, SR; Tucci, A; Welland, MJ; Williams, E; Witkowska, K; Wood, SM; Zarowiecki, M; Riess, O; Haack, TB; Graessner, H; Zurek, B; Ellwanger, K; Ossowski, S; Demidov, G; Sturm, M; Schulze-Hentrich, JM; Schüle, R; Kessler, C; Wayand, M; Synofzik, M; Wilke, C; Traschütz, A; Schöls, L; Hengel, H; Heutink, P; Brunner, H; Scheffer, H; Hoogerbrugge, N

Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Schuermans N; Program for Undiagnosed Rare Diseases (UD-PrOZA), Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Sommer AK; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Paramonov I; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Thomas C; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.; Aretz S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.; Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Benetti E; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Bullich G; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Chinnery PF; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Clayton-Smith J; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Cohen E; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Danis D; Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; de Sainte Agathe JM; Department of Genetics, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.; Denommé-Pichon AS; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France.; Diaz-Manera J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Faivre L; University of Burgundy, Dijon, France.; Genetics Department, Dijon University Hospital, Dijon, France.; Centre of Reference for Rare Diseases: Development Disorders and Malformation Syndromes, Dijon University Hospital, Dijon, France.; University of Burgundy-Franche Comté, Dijon, France.; GIMI institute, Dijon University Hospital, Dijon, France.; Fernandez-Callejo M; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Freeberg M; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.; Garcia-Pelaez J; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal.; Guillot-Noel L; Institut du Cerveau, Sorbonne University, Paris, France.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hanna M; MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK.; Hengel H; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Johansson L; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Johari M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Kellner M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands.; Lacombe D; MRGM, Maladies Rares: Génétique et Métabolisme, INSERM U1211, Université de Bordeaux, Bordeaux, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Lochmüller H; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; López-Martín E; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.; Macaya A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.; Marcé-Grau A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.; Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.; Musacchia F; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Nelson I; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Nigro V; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Olimpio C; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Oliveira C; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal.; Institut du Cerveau, Sorbonne University, Paris, France.; Paulasová Schwabová J; Centre of Hereditary Ataxia, Department of Neurology, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Pauly MG; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany.; Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Peters S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Piluso G; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Piscia D; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Posada M; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.; Reich S; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Renieri A; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Ryba L; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Šablauskas K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Institute of Data Science and Digital Technologies, Vilnius University, Vilnius, Lithuania.; Savarese M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Schöls L; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Steinke-Lange V; Medizinische Klinik und Poliklinik IV - Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ - Medical Genetics Center, Munich, Germany.; Stevanin G; Institut du Cerveau, Sorbonne University, Paris, France.; Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Swertz MA; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Te Paske IBAW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Thompson R; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Torella A; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Trainor C; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Udd B; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Tampere Neuromuscular Center, Tampere, Finland.; Vasa Central Hospital, Vaasa, Finland.; Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium.; van de Warrenburg B; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.; van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Vitobello A; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France.; Vos J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Vyhnálková E; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Wijngaard R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Wilke C; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; William D; Institute of Clinical Genetics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany.; National Center for Tumor Diseases (NCT), Dresden, Germany.; Xu J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Yaldiz B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Zalatnai L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Brookes AJ; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.; Evangelista T; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen (NCCT), University of Tübingen, Tübingen, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Schüle R; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Verloes A; Dept of Genetics, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert DEBRE University Hospital, Paris, France.; INSERM UMR 1141 'NeuroDiderot', Hôpital Robert DEBRE, Paris, France.; Matalonga L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre and GROW School for Development and Oncology, University of Maastricht, Maastricht, the Netherlands.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; de Voer RM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Beltran S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain. sergi.beltran@cnag.eu.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain. sergi.beltran@cnag.eu.; Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: In Process; MEDLINE

Denommé-Pichon, AS; Bruel, AL; Duffourd, Y; Safraou, H; Thauvin-Robinet, C; Tran Mau-Them, F; Philippe, C; Vitobello, A; Jean-Marçais, N; Moutton, S; Thevenon, J; Faivre, L; Matalonga, L; de Boer, E; Gilissen, C; Hoischen, A; Kleefstra, T; Pfundt, R; de Vries, BBA; Willemsen, MH; Vissers, LELM; Jackson, A; Banka, S; Clayton-Smith, J; Benetti, E; Fallerini, C; Renieri, A; Ciolfi, A; Dallapiccola, B; Pizzi, S; Radio, FC; Tartaglia, M; Ellwanger, K; Graessner, H; Haack, TB; Zurek, B; Havlovicova, M; Macek, M; Ryba, L; Schwarz, M; Votypka, P; López-Martín, E; Posada, M; Mencarelli, MA; Rooryck, C; Trimouille, A; Verloes, A; Abbott, KM; Kerstjens, M; Martín, EL; Maystadt, I; Morleo, M; Nigro, V; Pinelli, M

Mastantuono, E; Repp, B; Alston, CL; Schiff, M; Haack, TB; Rotig, A; Ardissone, A; Lombes, A; Catarino, CB; Diodato, D; Schottmann, G; Poulton, J; Burlina, A; Jonckheere, A; Munnich, A; Ghezzi, D; Rokicki, D; Wellesley, D; Martinelli, D; Lamantea, E; Ostergaard, E; Pronicka, E; Pierre, G; Smeets, HJ; Scurr, I; De Coo, IF; Moroni, I; Smet, J; Mayr, JA; De Meirleir, L; Schuelke, M; Zeviani, M; McFarland, R; Seneca, S; Klopstock, T; Meitinger, T; Strom, TM; Herberg, U; Sperl, W; Nassogne, M; Ling, H; Fang, F; Freisinger, P; Van Coster, R; Taylor, RW; Haberle, J; Vockley, J; Prokisch, H; Wortmann, S

Olsen RKJ; Konarikova E; Giancaspero TA; Mosegaard S; Boczonadi V; Matakovic L; Veauville Merllie A; Terrile C; Schwarzmayr T; Haack TB; Auranen M; Leone P; GALLUCCIO, Michele; Imbard A; Gutierrez Rios P; Palmfeldt J; Graf E; Vianey Saban C; Oppenheim M; Schiff M; Pichard S; Rigal O; Pyle A; Chinnery PF; Konstantopoulou V; Moslinger D; Feichtinger RG; Talim B; Topaloglu H; Coskun T; Gucer S; Botta A; Pegoraro E; Malena A; Vergani L; Mazza D; Zollino M; Ghezzi D; Acquaviva C; Tyni T; Boneh A; Meitinger T; Strom TM; Gregersen N; Mayr JA; Horvath R; Barile M; Prokisch H.

Am J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
instname
Am. J. Hum. Genet. 98, 1130-1145 (2016)
Olsen, R K J, Koňaříková, E, Giancaspero, T A, Mosegaard, S, Boczonadi, V, Mataković, L, Veauville-Merllié, A, Terrile, C, Schwarzmayr, T, Haack, T B, Auranen, M, Leone, P, Galluccio, M, Imbard, A, Gutierrez-Rios, P, Palmfeldt, J, Graf, E, Vianey-Saban, C, Oppenheim, M, Schiff, M, Pichard, S, Rigal, O, Pyle, A, Chinnery, P F, Konstantopoulou, V, Möslinger, D, Feichtinger, R G, Talim, B, Topaloglu, H, Coskun, T, Gucer, S, Botta, A, Pegoraro, E, Malena, A, Vergani, L, Mazzà, D, Zollino, M, Ghezzi, D, Acquaviva, C, Tyni, T, Boneh, A, Meitinger, T, Strom, T M, Gregersen, N, Mayr, J A, Horvath, R, Barile, M & Prokisch, H 2016, 'Riboflavin-Responsive and-Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency', American Journal of Human Genetics, vol. 98, no. 6, pp. 1130-45. https://doi.org/10.1016/j.ajhg.2016.04.006
American Journal of Human Genetics

Deng R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands.; Perenthaler E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands.; Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands.; Yousefi S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands.; Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands.; Maresca M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands.; Medico-Salsench E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands.; Sanderson LE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands.; Parker MJ; Sheffield Clinical Genomics Service, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK.; van Ijcken WFJ; Center for Biomics, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands.; Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, 72076, Germany.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, 72076, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, 72076, Germany; Centre for Rare Diseases, University of Tübingen, Tübingen, 72076, Germany.; Roshchupkin GV; Department of Radiology and Nuclear Medicine, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands; Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands.; Mulugeta E; Department of Internal Medicine, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3000 CA, the Netherlands. Electronic address: t.barakat@erasmusmc.nl.

Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

Quinodoz M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK.; Rodenburg K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Cvackova Z; Laboratory of RNA Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.; Kaminska K; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands.; Iglesias-Romero AB; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Boonen EGM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; The Rotterdam Eye Hospital, Rotterdam Ophthalmic Institute, Rotterdam, the Netherlands.; Ullah M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Zomer N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Folcher M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Bijon J; Vitreous Retina Macula Consultants of New York, New York, NY, USA.; Department of Ophthalmology, Rothschild Foundation Hospital, Paris, France.; Holtes LK; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Tsang SH; Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Vagelos College of Physicians and Surgeons Columbia University Irving Medical Center, New York, NY, USA.; Edward S. Harkness Eye Institute, Jonas Children's Vision Care (JCVC), Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY, USA.; Corradi Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Freund KB; Vitreous Retina Macula Consultants of New York, New York, NY, USA.; Department of Ophthalmology, NYU Grossman School of Medicine, New York, NY, USA.; Shliaga S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Panneman DM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Ali M; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.; AlTalbishi A; Molecular Biology Research Unit, St John Eye Hospital Group, Jerusalem, Palestine.; Andréasson S; Department of Ophthalmology, University Hospital of Lund, Lund, Sweden.; Ansari G; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Arno G; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC, USA.; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Ayyagari R; Department of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA.; Banfi S; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Genomic Medicine, Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Banin E; Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Barboni MTS; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Bauwens M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Ben-Yosef T; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Bernard V; GCS Auragen, Plan France Medecine Genomique, Lyon, France.; Birch DG; Retina Foundation of the Southwest, Dallas, TX, USA.; Biswas P; Department of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA.; Blanco-Kelly F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Bocquet B; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Boon CJF; Department of Ophthalmology, Leiden University Medical Center (LUMC), Leiden, the Netherlands.; Department of Ophthalmology, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Branham K; Department of Ophthalmology and Human Genetics, University of Michigan, Ann Arbor, MI, USA.; Bremond-Gignac D; Department of Ophthalmology, University Hospital Necker Enfants Malades, APHP, Paris Cité University, Paris, France.; UMRS1138, Centre de Recherche des Cordeliers, Université Paris Cité, INSERM, Paris, France.; Britten-Jones AC; Department of Optometry and Vision Sciences, The University of Melbourne, Melbourne, Victoria, Australia.; Bujakowska KM; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Burin des Roziers C; UMRS1138, Centre de Recherche des Cordeliers, Université Paris Cité, INSERM, Paris, France.; Service de Médecine Génomique des Maladies de Système et d'Organe, Hôpital Cochin, AP-HP Centre Université Paris Cité, Paris, France.; Laboratoire de Biologie Médicale SeqOIA, Site Broussais, Paris, France.; Cadena EL; Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.; Calzetti G; Vista Vision Eye Clinic, Brescia, Italy.; Clinical Translation Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Cancellieri F; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Cattaneo L; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Chadderton N; Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin, Ireland.; Charbel Issa P; Department of Ophthalmology, TUM University Hospital, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Coutinho-Santos L; Serviço de Oftalmologia, Instituto de Oftalmologia Dr. Gama Pinto, Lisboa, Portugal.; Daiger SP; Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.; De Baere E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; De Bruyne M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; de la Cerda B; Department of Cell Therapy and Regenerative Medicine, Andalusian Molecular Biology and Regenerative Medicine Centre, CABIMER, Seville, Spain.; De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.; De Zaeytijd J; Department of Head and Skin, Ghent University, Ghent, Belgium.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Derks R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Dhaenens CM; Université de Lille, INSERM U1172 - LilNCog - Lille Neuroscience & Cognition, Lille, France.; Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Duncan JL; Department of Ophthalmology, University of California, San Francisco, Wayne and Gladys Valley Center for Vision, San Francisco, CA, USA.; Farrar GJ; Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin, Ireland.; Feltgen N; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Fenner BJ; Department of Medical Retina, Singapore National Eye Centre, Singapore, Singapore.; Ophthalmology and Visual Sciences Academic Clinical Program, Duke-NUS Graduate Medical School, Singapore, Singapore.; Singapore Eye Research Institute, Singapore, Singapore.; Fernández-Caballero L; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Ferraz Sallum JM; Department of Ophthalmology, Federal University of São Paulo, UNIFESP, São Paulo, Brazil.; Gana S; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Garanto A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.; Gardner JC; UCL Institute of Ophthalmology, University College London, London, UK.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Gonzàlez-Duarte R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain.; Goto K; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Griffiths-Jones S; School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.; Haack TB; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.; Center for Rare Disease, University of Tübingen, Tübingen, Germany.; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), Ghana, South Africa.; Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Hardcastle AJ; UCL Institute of Ophthalmology, University College London, London, UK.; Hayashi T; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Japan.; Héon E; Department of Ophthalmology and Vision Sciences, Ocular Genetics Program, The Hospital for Sick Children, Toronto, Ontario, Canada.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.; Holtan JP; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway.; Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Ibanez MBB 4th; Department of Ophthalmology, Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, DOH Eye Center, East Avenue Medical Center, Quezon City, Philippines.; Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, Makati Medical Center, Makati City, Philippines.; Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.; Iwata T; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; Jensson BO; deCODE genetics, Amgen Inc., Reykjavik, Iceland.; Jones K; Retina Foundation of the Southwest, Dallas, TX, USA.; Kalatzis V; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Kamakari S; Department of Inherited Retinal Dystrophies, Ophthalmic Genetics Group, OMMA, Ophthalmological Institute of Athens, Athens, Greece.; Karali M; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Kellner U; Center for Rare Retinal Diseases, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany.; Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Knézy K; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Koenekoop RK; Department of Pediatric Surgery, Division of Pediatric Ophthalmology, Montreal Children's Hospital, McGill University Health Center (MUHC), Montreal, Quebec, Canada.; Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.; Kominami T; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Kühlewein L; University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.; Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.; Leibu R; Department of Ophthalmology, Rambam Health Care Campus, Haifa, Israel.; Leroy BP; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Ghent University, Ghent, Belgium.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Lopez I; Department of Pediatric Surgery, Division of Pediatric Ophthalmology, Montreal Children's Hospital, McGill University Health Center (MUHC), Montreal, Quebec, Canada.; López-Rodríguez VRJ; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Mahieu Q; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Mahroo OA; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Section of Ophthalmology, King's College London, St. Thomas' Hospital Campus, London, UK.; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.; Manes G; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; Mansard L; GCS Auragen, Plan France Medecine Genomique, Lyon, France.; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; Molecular Genetics Laboratory, Montpellier University, CHU Montpellier, Montpellier, France.; Martín-Gutiérrez MP; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, Madrid, Spain.; Martins N; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Mauring L; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Eye Clinic, Tartu University Hospital, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; McKibbin M; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.; Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, UK.; McLaren TL; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.; Meunier I; Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Michaelides M; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Millán JM; Instituto de Investigación Sanitaria La Fe (IIS La Fe) and CIBERER, Valencia, Spain.; Mizobuchi K; Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Japan.; Mukherjee R; Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, UK.; Nagy ZZ; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Ołdak M; Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland.; Oorsprong M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Pan Y; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; Papachristou A; Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece.; Percesepe A; Department of Medicine and Surgery, Medical Genetics, University of Parma, Parma, Italy.; Pfau M; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Pierce EA; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Place E; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Ramesar R; UCT/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Ramond F; GCS Auragen, Plan France Medecine Genomique, Lyon, France.; Department of Medical Genetics, Saint-Etienne University Hospital, Saint-Etienne, France.; Rasquin FA; Department of Ophthalmology, HUB-Erasme Hospital, Brussels, Belgium.; Rice GI; School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.; Roberts L; UCT/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Rodríguez-Hidalgo M; Department of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.; Department of Genetic, Physical Anthropology and Animal Physiology, University of the Basque Country (UPV/EHU), Leioa, Spain.; Ruiz-Ederra J; Department of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.; Department of Ophthalmology, University of the Basque Country (UPV/EHU), San Sebastián, Spain.; Sabir AH; West Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; Sajiki AF; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Sánchez-Barbero AI; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Sarma AS; Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel.; Sangermano R; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Santos CM; Serviço de Oftalmologia, Instituto de Oftalmologia Dr. Gama Pinto, Lisboa, Portugal.; iNOVA4Health, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisboa, Portugal.; Scarpato M; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Scholl HPN; Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria.; Pallas Kliniken AG, Pallas Klinik Zürich, Zürich, Switzerland.; European Vision Institute, Basel, Switzerland.; Sharon D; Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel.; Signorini SG; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.; Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Sousa AB; Department of Medical Genetics, ULS Santa Maria, Lisboa, Portugal.; Laboratory of Basic Immunology, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.; Stefaniotou M; Department of Ophthalmology, School of Medicine, University of Ioannina, Ioannina, Greece.; Stefansson K; deCODE genetics, Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Stingl K; University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.; Suga A; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; Sulem P; deCODE genetics, Amgen Inc., Reykjavik, Iceland.; Sullivan LS; Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.; Szabó V; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Szaflik JP; Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland.; SPKSO Ophthalmic University Hospital in Warsaw, Warsaw, Poland.; Taurina G; Medical Genetics and Prenatal Diagnostics Clinic, Children's Clinical University Hospital, Riga, Latvia.; Thiadens AAHJ; Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Toomes C; Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK.; Tran VH; Department of Ophthalmology; Oculogenetics Unit, Jules Gonin University Hospital; University of Lausanne, Lausanne, Switzerland.; Centre for Gene Therapy & Regenerative Medicine, King's College London, London, UK.; Tsilimbaris MK; Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece.; Tsoka P; Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece.; Vaclavik V; Department of Ophthalmology; Oculogenetics Unit, Jules Gonin University Hospital; University of Lausanne, Lausanne, Switzerland.; Vajter M; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Valeina S; Eye Disease Clinic, Children's University Hospital Riga, Riga, Latvia.; Valente EM; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Valentine C; UCT/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Valero R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain.; Valleix S; UMRS1138, Centre de Recherche des Cordeliers, Université Paris Cité, INSERM, Paris, France.; Service de Médecine Génomique des Maladies de Système et d'Organe, Hôpital Cochin, AP-HP Centre Université Paris Cité, Paris, France.; Laboratoire de Biologie Médicale SeqOIA, Site Broussais, Paris, France.; van Aerschot J; Department of Ophthalmology, Pediatric Ophthalmology and Ophthalmogenetics, University Hospitals Leuven, Leuven, Belgium.; van den Born LI; The Rotterdam Eye Hospital, Rotterdam Ophthalmic Institute, Rotterdam, the Netherlands.; Van Heetvelde M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Verhoeven VJM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Vincent AL; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Science, University of Auckland, Auckland, New Zealand.; Webster AR; UCL Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Whelan L; Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin, Ireland.; School of Pharmacy and Biomolecular Sciences (PBS), RCSI University of Medicine and Health Sciences, Dublin, Ireland.; FutureNeuro Research Ireland Centre, RCSI University of Medicine and Health Sciences, Dublin, Ireland.; Wissinger B; Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.; Yioti GG; Department of Ophthalmology, School of Medicine, University of Ioannina, Ioannina, Greece.; Yoshitake K; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico.; Zeuli R; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Zuleger T; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.; Landau C; Bonei Olam - Center for Rare Jewish Genetic Diseases, Brooklyn, NY, USA.; Jacob AI; Physicians Dialysis, Miami, FL, USA.; Lin S; National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK.; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK.; Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Lee W; Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.; Ellingford JM; School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK.; Genomics England Ltd, London, UK.; Stanek D; Laboratory of RNA Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.; Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. susanne.roosing@radboudumc.nl.; Rivolta C; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Hilberath J; Pediatric Gastroenterology and Hepatology, University Children´s Hospital Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Tsiflikas I; Department of Diagnostic and Interventional Radiology, University Hospital of Tübingen, Tübingen, Germany.; Sanders A; Department of Pediatric Surgery and Urology, University Children´s Hospital Tübingen, Hoppe-Seyler-Straße 3, D-72076, Tübingen, Germany.; Lieber J; Department of Pediatric Surgery and Urology, University Children´s Hospital Tübingen, Hoppe-Seyler-Straße 3, D-72076, Tübingen, Germany.; Luithle T; Department of Pediatric Surgery and Urology, University Children´s Hospital Tübingen, Hoppe-Seyler-Straße 3, D-72076, Tübingen, Germany.; Haack TB; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Sturm E; Pediatric Gastroenterology and Hepatology, University Children´s Hospital Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Fuchs J; Department of Pediatric Surgery and Urology, University Children´s Hospital Tübingen, Hoppe-Seyler-Straße 3, D-72076, Tübingen, Germany.; Warmann S; Department of Pediatric Surgery and Urology, University Children´s Hospital Tübingen, Hoppe-Seyler-Straße 3, D-72076, Tübingen, Germany.; Pediatric Surgery, Charité University Hospital, Berlin, Germany.; Slavetinsky C; Department of Pediatric Surgery and Urology, University Children´s Hospital Tübingen, Hoppe-Seyler-Straße 3, D-72076, Tübingen, Germany. christoph.slavetinsky@med.uni-tuebingen.de.; Cluster of Excellence EXC 2124 Controlling Microbes to Fight Infections, Tübingen, Germany. christoph.slavetinsky@med.uni-tuebingen.de.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: In Process; MEDLINE

Till A; Federal Institute for Drugs and Medical Devices (BfArM), Bonn, Germany. andreas.till@bfarm.de.; Siddiqui RA; Technology, Methods, and Infrastructure for Networked Medical Research (TMF), Berlin, Germany.; Altbürger C; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.; Center for Personalized Medicine (ZPM) Heidelberg, Heidelberg, Germany.; Schwarz R; National Association of Statutory Health Insurance Funds, GKV-Spitzenverband, Berlin, Germany.; Huebner T; Federal Institute for Drugs and Medical Devices (BfArM), Bonn, Germany.; Wolf J; Department I of Internal Medicine, Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), University Hospital of Cologne, Cologne, Germany.; National Network Genomic Medicine (nNGM) Lung Cancer, University Hospital of Cologne, Cologne, Germany.; Andres D; Federal Ministry of Health, Bonn, Germany.; Anker A; Federal Ministry of Health, Bonn, Germany.; Aretz S; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.; Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Bonn, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tubingen, Germany.; Center for Rare Diseases, University of Tübingen, Tubingen, Germany.; Berlage T; Fraunhofer Institute for Applied Information Technology FIT, Sankt Augustin, Germany.; RWTH Aachen University, Aachen, Germany.; Beule D; Berlin Institute of Health, Translational Research Unit of Charité-Universitätsmedizin Berlin, Berlin, Germany.; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.; Boerries M; Institute of Medical Bioinformatics and Systems Medicine, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; German Cancer Consortium (DKTK), Partner Site Freiburg (a partnership between DKFZ and Medical Center-University of Freiburg), Freiburg, Germany.; Buchhalter I; Omics IT and Data Management Core Facility, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Bussmann J; German Association of Academic Medical Centers (Verband der Universitätsklinika Deutschlands), Berlin, Germany.; Engel C; Institute for Medical Informatics, Statistics and Epidemiology, Leipzig University, Leipzig, Germany.; Friedrichs J; House of Cancer Self-Help - Federal Association, Bonn, Germany.; Fröhling S; Division of Translational Medical Oncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; National Center for Tumor Diseases (NCT), NCT Heidelberg (a partnership between DKFZ and Heidelberg University Hospital), Heidelberg, Germany.; German Cancer Consortium (DKTK), Core Center Heidelberg, Heidelberg, Germany.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Haenisch B; Federal Institute for Drugs and Medical Devices (BfArM), Bonn, Germany.; Center for Translational Medicine, University of Bonn, Bonn, Germany.; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Hahne A; BRCA Network-Help for People affected by Hereditary Cancer, Bonn, Germany.; Hübschmann D; National Center for Tumor Diseases (NCT), NCT Heidelberg (a partnership between DKFZ and Heidelberg University Hospital), Heidelberg, Germany.; German Cancer Consortium (DKTK), Core Center Heidelberg, Heidelberg, Germany.; BRCA Network-Help for People affected by Hereditary Cancer, Bonn, Germany.; Innovation and Service Unit for Bioinformatics and Precision Medicine, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Heidelberg Institute for Stem cell Technology and Experimental Medicine (HI-STEM), Heidelberg, Germany.; von Kessel F; Technology, Methods, and Infrastructure for Networked Medical Research (TMF), Berlin, Germany.; Klatt R; Federal Institute for Drugs and Medical Devices (BfArM), Bonn, Germany.; Kreutzfeldt S; Division of Translational Medical Oncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; National Center for Tumor Diseases (NCT), NCT Heidelberg (a partnership between DKFZ and Heidelberg University Hospital), Heidelberg, Germany.; German Cancer Consortium (DKTK), Core Center Heidelberg, Heidelberg, Germany.; Kron A; Department I of Internal Medicine, Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), University Hospital of Cologne, Cologne, Germany.; National Network Genomic Medicine (nNGM) Lung Cancer, University Hospital of Cologne, Cologne, Germany.; Krude H; Institute of Experimental Pediatric Endocrinology, Charite-Universitätsmedizin, Berlin, Germany.; Lübbe A; Robert Koch Institute, Berlin, Germany.; Lührig U; Department I of Internal Medicine, Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), University Hospital of Cologne, Cologne, Germany.; National Network Genomic Medicine (nNGM) Lung Cancer, University Hospital of Cologne, Cologne, Germany.; Malek N; Department for Internal Medicine 1, M3-Research Center for Malignome, Metabolome and Microbiome, University Hospital Tübingen, Tubingen, Germany.; Center for Personalized Medicine Tübingen, University Hospital Tübingen, Tubingen, Germany.; Mertes C; TUM School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Möller Y; Center for Personalized Medicine Tübingen, University Hospital Tübingen, Tubingen, Germany.; M3-Research Center for Malignome, Metabolome and Microbiome, University Hospital Tübingen, Tubingen, Germany.; Mundlos C; Alliance for Chronic Rare Diseases Germany (ACHSE), DRK Klinikum Berlin Mitte, Berlin, Germany.; Nöthen MM; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.; Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tubingen, Germany.; Center for Personalized Medicine Tübingen, University Hospital Tübingen, Tubingen, Germany.; Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Tubingen, Germany.; Pötschke L; Federal Institute for Drugs and Medical Devices (BfArM), Bonn, Germany.; Rasokat A; Department I of Internal Medicine, Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), University Hospital of Cologne, Cologne, Germany.; National Network Genomic Medicine (nNGM) Lung Cancer, University Hospital of Cologne, Cologne, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tubingen, Germany.; Center for Rare Diseases, University of Tübingen, Tubingen, Germany.; Schade S; Federal Ministry of Health, Bonn, Germany.; Schirmacher P; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.; Center for Personalized Medicine (ZPM) Heidelberg, Heidelberg, Germany.; Schmutzler R; Faculty of Medicine, University of Cologne and Center for Familial Breast and Ovarian Cancer, University Hospital Cologne, Cologne, Germany.; German Consortium Hereditary Breast and Ovarian Cancer (GC-HBOC), University Hospital of Cologne, Cologne, Germany.; Scholl C; Federal Institute for Drugs and Medical Devices (BfArM), Bonn, Germany.; Semler SC; Technology, Methods, and Infrastructure for Networked Medical Research (TMF), Berlin, Germany.; Spielmann M; Institute of Human Genetics, University Hospital Schleswig-Holstein, University of Lübeck and Kiel University, Lubeck, Germany.; Stegle O; Division of Computational Genomics & Systems Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany.; European Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.; Stenzinger A; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.; Center for Personalized Medicine (ZPM) Heidelberg, Heidelberg, Germany.; Straßburger J; Federal Ministry of Health, Bonn, Germany.; Schröck E; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden, University of Technology and Faculty of Medicine of TUD Dresden University of Technology, Dresden, Germany.; Krawczak M; Technology, Methods, and Infrastructure for Networked Medical Research (TMF), Berlin, Germany.; Institute of Medical Informatics and Statistics, Kiel University, University Medical Center Schleswig-Holstein, Kiel, Germany.; Kohlbacher O; Center for Personalized Medicine Tübingen, University Hospital Tübingen, Tubingen, Germany. oliver.kohlbacher@uni-tuebingen.de.; Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Tubingen, Germany. oliver.kohlbacher@uni-tuebingen.de.; Department of Computer Science, University of Tübingen, Tubingen, Germany. oliver.kohlbacher@uni-tuebingen.de.; Institute for Translational Bioinformatics, University Hospital Tübingen, Tubingen, Germany. oliver.kohlbacher@uni-tuebingen.de.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: In Process; MEDLINE

Witt D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. Electronic address: dennis.witt@med.uni-tuebingen.de.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Stäbler A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Menden B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ruisinger L; Klinikum Sindelfingen-Böblingen Kliniken Böblingen, Böblingen, Germany.; Bosse K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Universitäts-Frauenklinik, University of Tübingen, Tübingen, Germany.; Gruber I; Universitäts-Frauenklinik, University of Tübingen, Tübingen, Germany.; Hartkopf A; Universitäts-Frauenklinik, University of Tübingen, Tübingen, Germany.; Gauß S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Casadei N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; NGS Competence Centre Tübingen (NCCT), University of Tübingen, Tübingen, Germany.; Atienza EB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Mehnert K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Witt J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Gross C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Schroeder C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; NGS Competence Centre Tübingen (NCCT), University of Tübingen, Tübingen, Germany.; Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Faust U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9213011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-3080 (Electronic) Linking ISSN: 09609776 NLM ISO Abbreviation: Breast Subsets: MEDLINE

Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Schuermans N; Program for Undiagnosed Rare Diseases (UD-PrOZA), Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Sommer AK; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Paramonov I; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Thomas C; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.; Aretz S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.; Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Benetti E; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Bullich G; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Chinnery PF; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Clayton-Smith J; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Cohen E; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Danis D; Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; de Sainte Agathe JM; Department of Genetics, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.; Denommé-Pichon AS; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France.; Diaz-Manera J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Faivre L; University of Burgundy, Dijon, France.; Genetics Department, Dijon University Hospital, Dijon, France.; Centre of Reference for Rare Diseases: Development Disorders and Malformation Syndromes, Dijon University Hospital, Dijon, France.; University of Burgundy-Franche Comté, Dijon, France.; GIMI institute, Dijon University Hospital, Dijon, France.; Fernandez-Callejo M; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Freeberg M; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.; Garcia-Pelaez J; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal.; Guillot-Noel L; Institut du Cerveau, Sorbonne University, Paris, France.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hanna M; MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK.; Hengel H; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Johansson L; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Johari M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Kellner M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands.; Lacombe D; MRGM, Maladies Rares: Génétique et Métabolisme, INSERM U1211, Université de Bordeaux, Bordeaux, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Lochmüller H; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; López-Martín E; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.; Macaya A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.; Marcé-Grau A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.; Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.; Musacchia F; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Nelson I; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Nigro V; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Olimpio C; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Oliveira C; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal.; Institut du Cerveau, Sorbonne University, Paris, France.; Paulasová Schwabová J; Centre of Hereditary Ataxia, Department of Neurology, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Pauly MG; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany.; Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Peters S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Piluso G; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Piscia D; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Posada M; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.; Reich S; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Renieri A; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Ryba L; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Šablauskas K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Institute of Data Science and Digital Technologies, Vilnius University, Vilnius, Lithuania.; Savarese M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Schöls L; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Steinke-Lange V; Medizinische Klinik und Poliklinik IV - Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ - Medical Genetics Center, Munich, Germany.; Stevanin G; Institut du Cerveau, Sorbonne University, Paris, France.; Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Swertz MA; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Te Paske IBAW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Thompson R; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Torella A; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Trainor C; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Udd B; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Tampere Neuromuscular Center, Tampere, Finland.; Vasa Central Hospital, Vaasa, Finland.; Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium.; van de Warrenburg B; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.; van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Vitobello A; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France.; Vos J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Vyhnálková E; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Wijngaard R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Wilke C; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; William D; Institute of Clinical Genetics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany.; National Center for Tumor Diseases (NCT), Dresden, Germany.; Xu J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Yaldiz B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Zalatnai L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Brookes AJ; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.; Evangelista T; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen (NCCT), University of Tübingen, Tübingen, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Schüle R; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Verloes A; Dept of Genetics, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert DEBRE University Hospital, Paris, France.; INSERM UMR 1141 'NeuroDiderot', Hôpital Robert DEBRE, Paris, France.; Matalonga L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre and GROW School for Development and Oncology, University of Maastricht, Maastricht, the Netherlands.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; de Voer RM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Beltran S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain.; Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Khan A; Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan.; Muhammad A; Department of Molecular Biology & Genetics, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.; Ullah H; Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan.; Ambreen H; Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan.; Ullah A; Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan.; May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.; Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Rehman SU; Department of Biotechnology, University of Science and Technology Bannu, Bannu, Pakistan.; Kegele J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Glasgow RIC; Thompson K; Barbosa IA; He L; Alston CL; Deshpande C; Simpson MA; Morris AAM; Neu A; Löbel U; Hall J; Prokisch H; Haack TB; Hempel M; McFarland R; Taylor RW

Neurogenetics
Glasgow, R I C, Thompson, K, Barbosa, I A, He, L, Alston, C L, Deshpande, C, Simpson, M A, Morris, A A M, Neu, A, Löbel, U, Hall, J, Prokisch, H, Haack, T B, Hempel, M, McFarland, R & Taylor, R W 2017, ' Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits ', NEUROGENETICS, pp. 1-9 . https://doi.org/10.1007/s10048-017-0526-4
Neurogenetics 18, 1-9 (2017)
neurogenetics

Haack TB; Staufner C; Köpke MG; Straub BK; Kölker S; Thiel C; Freisinger P; Baric I; McKiernan PJ; Dikow N; Harting I; Beisse F; Burgard P; Kotzaeridou U; Kühr J; Himbert U; Taylor RW; Distelmaier F; Vockley J; Ghaloul-Gonzalez L; Zschocke J; Kremer LS; Graf E; Schwarzmayr T; Bader DM; Gagneur J; Wieland T; Terrile C; Strom TM; Meitinger T; Hoffmann GF; Prokisch H

Am J Hum Genet
Am. J. Hum. Genet. 97, 163-169 (2015)

Bou-Rouphael J; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France.; Cospain A; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France.; Courtin T; Département de Génétique Médicale, Centre de référence déficience intellectuelle, APHP Sorbonne Université, Hôpitaux Pitié-Salpêtrière et Armand Trousseau, 75013 Paris, France.; Keren B; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France.; Marie C; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France.; Lesieur-Sebellin M; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France.; Heron D; Département de Génétique Médicale, Centre de référence déficience intellectuelle, APHP Sorbonne Université, Hôpitaux Pitié-Salpêtrière et Armand Trousseau, 75013 Paris, France.; de Sainte Agathe JM; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France.; Heide S; Département de Génétique Médicale, Centre de référence déficience intellectuelle, APHP Sorbonne Université, Hôpitaux Pitié-Salpêtrière et Armand Trousseau, 75013 Paris, France.; Lejeune E; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France.; Quelin C; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, CHU Rennes, 35000 Rennes, France.; Lecoquierre F; Département de Génétique et Centre de Référence Maladies Rares, Normandie University, UNIROUEN, Inserm U1245, FHU G4 Génomique, CHU Rouen, 76000 Rouen, France.; Nizon M; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.; Isidor B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.; Besnard T; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.; Cogne B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.; Latypova X; Département de Génétique, Hôpital Robert Debré, 75019 Paris, France.; Levy J; Département de Génétique, Hôpital Robert Debré, 75019 Paris, France.; Joset P; Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland.; Steindl K; Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland.; Palomares-Bralo M; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, IdISBa, 07120 Palma de Mallorca, Spain.; Santos-Simarro F; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, IdISBa, 07120 Palma de Mallorca, Spain.; Thomas MA; Departments of Medical Genetics and Pediatrics, Cumming School of Medicine, Alberta Children's Hospital, University of Calgary, Calgary, AB, Canada.; Abubakar A; Center for Geographic Medicine Research Coast, Neuroscience Unit, KEMRI-Wellcome Trust, Kilifi, Kenya; Institute of Human Development, Aga Khan University, Nairobi, Kenya; Department of Psychiatry, University of Oxford, London, UK.; Lynch SA; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland.; Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72074 Tübingen, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72074 Tübingen, Germany; Center for Rare Disease, Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), University of Tübingen, 72074 Tübingen, Germany.; Zenker M; Institute of Human Genetics, University Hospital, 39120 Magdeburg, Germany.; Parker M; Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Clossick E; Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Spiller M; Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Crookes R; Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Holder-Espinasse M; Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, Guy's Hospital, London, UK.; Bayat A; Department of Child Neurology, Danish Epilepsy Centre, 4293 Dianalund, Denmark.; Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, 4293 Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark.; Mieszczanek TS; Department of Child Neurology, Danish Epilepsy Centre, 4293 Dianalund, Denmark.; de la Grange P; GenoSplice, 75014 Paris, France.; Buratti J; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France.; Marijon P; Laboratoire de Médecine Génomique SeqOIA, 75014 Paris, France.; Ataf S; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Gavin R; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Parras C; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France.; Hassan BA; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France.; Mignot C; Département de Génétique Médicale, Centre de référence déficience intellectuelle, APHP Sorbonne Université, Hôpitaux Pitié-Salpêtrière et Armand Trousseau, 75013 Paris, France.; El Khattabi L; Paris Brain Institute, Sorbonne Université, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, 75013 Paris, France; Département de Génétique Médicale, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France. Electronic address: laila.elkhattabi@icm-institute.org.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Kožich V; Schwahn BC; Sokolová J; Křížková M; Ditroi T; Krijt J; Khalil Y; Křížek T; Vaculíková-Fantlová T; Stibůrková B; Mills P; Clayton P; Barvíková K; Blessing H; Sykut-Cegielska J; Dionisi-Vici C; Gasperini S; García-Cazorla Á; Haack TB; Honzík T; Ješina P; Kuster A; Laugwitz L; Martinelli D; Porta F; Santer R; Schwarz G; Nagy P.

Redox Biol
REDOX BIOLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Redox Biology, Vol 58, Iss, Pp 102517-(2022)

Rots D; Jakub TE; Keung C; Jackson A; Banka S; Pfundt R; de Vries BBA; van Jaarsveld RH; Hopman SMJ; van Binsbergen E; Valenzuela I; Hempel M; Bierhals T; Kortüm F; Lecoquierre F; Goldenberg A; Hertz JM; Andersen CB; Kibæk M; Prijoles EJ; Stevenson RE; Everman DB; Patterson WG; Meng L; Gijavanekar C; De Dios K; Lakhani S; Levy T; Wagner M; Wieczorek D; Benke PJ; Lopez Garcia MS; Perrier R; Sousa SB; Almeida PM; Simões MJ; Isidor B; Deb W; Schmanski AA; Abdul-Rahman O; Philippe C; Bruel AL; Faivre L; Vitobello A; Thauvin C; Smits JJ; Garavelli L; Caraffi SG; Peluso F; Davis-Keppen L; Platt D; Royer E; Leeuwen L; Sinnema M; Stegmann APA; Stumpel CTRM; Tiller GE; Bosch DGM; Potgieter ST; Joss S; Splitt M; Holden S; Prapa M; Foulds N; Douzgou S; Puura K; Waltes R; Chiocchetti AG; Freitag CM; Satterstrom FK; De Rubeis S; Buxbaum J; Gelb BD; Branko A; Kushima I; Howe J; Scherer SW; Arado A; Baldo C; Patat O; Bénédicte D; Lopergolo D; Santorelli FM; Haack TB; Dufke A; Bertrand M; Falb RJ; Rieß A; Krieg P; Spranger S; Bedeschi MF; Iascone M; Josephi-Taylor S; Roscioli T; Buckley MF; Liebelt J; Dagli AI; Aten E; Hurst ACE; Hicks A; Suri M; Aliu E; Naik S; Sidlow R; Coursimault J; Nicolas G; Küpper H; Petit F; Ibrahim V; Top D; Di Cara F; Louie RJ; Stolerman E; Brunner HG; Vissers LELM; Kramer JM; Kleefstra T

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: In Process; MEDLINE

Dominik N; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Efthymiou S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Record CJ; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Miao X; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; Lin RQ; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Parmar JM; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Scardamaglia A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Lowe SA; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Aughey GN; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Wilson AD; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Curro R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Schnekenberg RP; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Alavi S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Leclaire L; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; He Y; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; Zhelcheska K; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Bellaïche Y; Institut Curie, Université PSL, Sorbonne Université, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France.; Gaugué I; Institut Curie, Université PSL, Sorbonne Université, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France.; Skorupinska M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Da'as SI; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Turchetti V; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Güngör S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatric Neurology, Malatya, Turkey.; Monahan GV; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Ghayoor Karimiani E; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Jamshidi Y; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Lamont PJ; Royal Perth Hospital, Perth, Western Australia, Australia.; Armirola-Ricaurte C; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Topaloglu H; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.; Jordanova A; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria.; Zaman M; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.; Banu SH; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.; Marques W; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.; Tomaselli PJ; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil.; Aynekin B; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey.; Cansu A; Department of Pediatric Neurology, Faculty of Medicine, Farabi Hospital, Karadeniz Technical University, Trabzon, Turkey.; Per H; Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey.; Güleç A; Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey.; Alvi JR; Children's Hospital & the Institute of Child Health, Lahore, Pakistan.; Sultan T; Children's Hospital & the Institute of Child Health, Lahore, Pakistan.; Khan A; Neuropedia Children's Neuroscience Center, Dubai, United Arab Emirates.; Fakeeh University Hospital, Dubai, United Arab Emirates.; Kids Neuro Clinic, Dubai, United Arab Emirates.; Zifarelli G; CENTOGENE GmbH, Rostock, Germany.; Ibrahim S; Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan.; Mancini GMS; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Brusse E; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Lupo V; Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.; Sevilla T; Hospital Universitari i Politècnic La Fe & IIS La Fe, Neuromuscular Diseases Unit, Department of Neurology, Valencia, Spain.; Universitat de València, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Başak AN; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.; Tekgul S; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.; Palvadeau RJ; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.; Baets J; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Parman Y; Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Çakar A; Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; Haack TB; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.; Stahl JH; Department of Epileptology, Center of Neurology, and.; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Grundmann-Hauser K; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.; Park J; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.; Zuchner S; John P. Hussman Institute for Human Genomics and.; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.; Laing NG; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Wilson LA; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Rossor AM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Polke J; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom.; Figueiredo FB; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil.; Pessoa A; Universidade Federal Do Ceara - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil.; Kok F; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil.; Coimbra-Neto AR; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Department of Neurology, School of Medicine, Centro Universitário Uninovafapi - UNINOVAFAPI, Teresina, Piauí, Brazil.; Franca MC Jr; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Ravenscroft G; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Hamed SA; Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University, Assiut, Egypt.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Pittman AM; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Osborn DP; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Hanna M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Cortese A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Reilly MM; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Jepson JE; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Lamarche-Vane N; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Kegele J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; EpiCARE, European Reference Network.; Juenger H; Klinik für Kinderheilkunde, Jugendmedizin, und Neonatologie, Klinikum Kempten, Kempten, Germany.; Frantzmann H; Kinder- und Jugendarztpraxis, Memmingen, Germany.; Gläser D; MVZ Genetikum, Neu-Ulm, Germany.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; EpiCARE, European Reference Network.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Genomics for Health in Africa, Africa-Europe Cluster of Research Excellence.; Bader I; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Haack TB; Ignatius E; Calvo-Garrido J; Iuso A; Isohanni P; Maffezzini C; Lonnqvist T; Suomalainen A; Gorza M; Kremer LS; Graf E; Hartig M; Berutti R; Paucar M; Svenningsson P; Stranneheim H; Brandberg G; Wedell A; Kurian MA; Hayflick SA; Venco P; Tiranti V; Strom TM; Dichgans M; Horvath R; Holinski-Feder E; Freyer C; Meitinger T; Prokisch H; Senderek J; Wredenberg A; Carroll CJ; Klopstock T

The American journal of human genetics 99(3), 735-743 (2016). doi:10.1016/j.ajhg.2016.06.026
Am. J. Hum. Genet. 99, 735-743 (2016)