부산대학교 도서관

Sandra van Wilpe; Davide Croci; Sara S. Fonseca Costa; Iris B.A.W. te Paske; Sofie H. Tolmeijer; Jolique van Ipenburg; Leonie I. Kroeze; Simona Pavan; Sylvain Monnier-Benoit; Guido Coccia; Noushin Hadadi; Irma M. Oving; Tineke J. Smilde; Theo van Voorthuizen; Marieke Berends; Mira D. Franken; Marjolijn J.L. Ligtenberg; Sahar Hosseinian Ehrensberger; Laura Ciarloni; Pedro Romero; Niven Mehra

JCI Insight, Vol 10, Iss 5 (2025)

São José, Celina; Garcia-Pelaez, José; Ferreira, Marta; Arrieta, Oscar; André, Ana; Martins, Nelson; Solís, Samantha; Martínez-Benítez, Braulio; Ordóñez-Sánchez, María Luisa; Rodríguez-Torres, Maribel; Sommer, Anna K.; te Paske, Iris B. A. W.; Caldas, Carlos; Tischkowitz, Marc; Tusié, Maria Teresa; Hoogerbrugge, Nicoline; Demidov, German; de Voer, Richarda M.; Laurie, Steve; Oliveira, Carla

Gastric Cancer. :1-14

Capella, Gabriel ; Evans, Gareth ; Rump, Andreas ; Schröck, Evelin ; Hoischen, Alexander ; Geverink, Nicoline ; Tischkowitz, Marc ; Matalonga, Leslie ; Laurie, Steven ; Gilissen, Christian ; Steyaert, Wouter ; Demidov, German ; Sommer, Anna K. ; te Paske, Iris B.A.W. ; Garcia-Pelaez, José ; Laner, Andreas ; Holinski-Feder, Elke ; Steinke-Lange, Verena ; Peters, Sophia ; Valle, Laura ; Spier, Isabel ; Huntsman, David ; Oliveira, Carla ; de Voer, Richarda M. ; Hoogerbrugge, Nicoline ; Aretz, Stefan

In European Journal of Medical Genetics May 2022 65(5)

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.; 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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; 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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.; 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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

Sommer AK; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Te Paske IBAW; Department of Human Genetics, Radboud Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pathology, Radboud Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Jansen EAM; Department of Human Genetics, Radboud Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Gschwind A; 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.; Steinke-Lange V; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany; Medizinische Klinik und Poliklinik IV - Campus Innenstadt, Klinikum der Universität München, Munich, Germany; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.; Spier I; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands; National Center for Hereditary Tumour Syndromes, University Hospital Bonn, Bonn, Germany.; Steyaert W; Department of Human Genetics, Radboud Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Yaldiz B; Department of Human Genetics, Radboud Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Steehouwer M; Department of Human Genetics, Radboud Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Hommerding O; Institute of Pathology, Medical Faculty, University of Bonn, Bonn, Germany.; Dietrich D; Department of Otolaryngology, Head and Neck Surgery, University Hospital Bonn, University of Bonn, Bonn, Germany.; Peters S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Garcia-Pelaez J; i3S - Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal; Ipatimup, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Laner A; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.; Oliveira C; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands; i3S - Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal; Ipatimup, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Capellá G; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL and CIBERONC, Barcelona, Spain.; Nagtegaal ID; Department of Pathology, Radboud Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Bläker H; Institute of Pathology, University of Leipzig, Leipzig, Germany.; Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hoischen A; Department of Human Genetics, Radboud Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, the Netherlands.; Gilissen C; Department of Human Genetics, Radboud Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; van der Post RS; Department of Pathology, Radboud Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.; Kristiansen G; Institute of Pathology, Medical Faculty, University of Bonn, Bonn, Germany.; Hoogerbrugge N; Department of Human Genetics, Radboud Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.; Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Valle L; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL and CIBERONC, Barcelona, Spain.; Holinski-Feder E; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany; Medizinische Klinik und Poliklinik IV - Campus Innenstadt, Klinikum der Universität München, Munich, Germany; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.; Ligtenberg MJL; Department of Human Genetics, Radboud Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pathology, Radboud Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.; Aretz S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands; National Center for Hereditary Tumour Syndromes, University Hospital Bonn, Bonn, Germany. Electronic address: stefan.aretz@uni-bonn.de.; de Voer RM; Department of Human Genetics, Radboud Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands. Electronic address: Richarda.devoer@radboudumc.nl.

Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0374630 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0012 (Electronic) Linking ISSN: 00165085 NLM ISO Abbreviation: Gastroenterology Subsets: MEDLINE

Hopp, Katharina ; Cornec-Le Gall, Emilie ; Senum, Sarah R. ; te Paske, Iris B.A.W. ; Raj, Sonam ; Lavu, Sravanthi ; Baheti, Saurabh ; Edwards, Marie E. ; Madsen, Charles D. ; Heyer, Christina M. ; Ong, Albert C.M. ; Bae, Kyongtae T. ; Fatica, Richard ; Steinman, Theodore I. ; Chapman, Arlene B. ; Gitomer, Berenice ; Perrone, Ronald D. ; Rahbari-Oskoui, Frederic F. ; Torres, Vicente E. ; Harris, Peter C.

In Kidney International February 2020 97(2):370-382

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

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Repisalud
Instituto de Salud Carlos III (ISCIII)
Genetics in Medicine, 25, 4
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In: GigaScience. (GigaScience, 2024, 13)

Yaldiz, B.; Kucuk, E.; Hampstead, J.; Hofste, T.; Corominas Galbany, J.; Rinne, T.; Hoischen, A.; Nelen, M.; Gilissen, C.; Pfundt, R.; Yntema, H.G.; Riess, O.; Haack, T.B.; Graessner, H.; Zurek, B.; Ellwanger, K.; Ossowski, S.; Demidov, G.; Sturm, M.; Schulze-Hentrich, J.M.; Schüle, R.; Xu, J.; Kessler, C.; Wayand, M.; Synofzik, M.; Wilke, C.; Traschütz, A.; Schöls, L.; Hengel, H.; Lerche, H.; Kegele, J.; Heutink, P.; Brunner, H.; Scheffer, H.; Hoogerbrugge, N.; Hoischen, A.; Hoen, P.A.C.; Vissers, L.E.L.M.; Gilissen, C.; Steyaert, W.; Sablauskas, K.; de Voer, R.M.; Kamsteeg, E.-J.; van de Warrenburg, B.; van Os, N.; te Paske, I.; Janssen, E.; de Boer, E.; Steehouwer, M.; Yaldiz, B.; Kleefstra, T.; Brookes, A.J.; Veal, C.; Gibson, S.; Maddi, V.; Mehtarizadeh, M.; Riaz, U.; Warren, G.; Dizjikan, F.Y.; Shorter, T.; Töpf, A.; Straub, V.; Bettolo, C.M.; Manera, J.D.; Hambleton, S.; Engelhardt, K.; Clayton-Smith, J.; Banka, S.; Alexander, E.; Jackson, A.; Faivre, L.; Thauvin, C.; Vitobello, A.; Denommé-Pichon, A.-S.; Duffourd, Y.; Bruel, A.-L.; Peyron, C.; Pélissier, A.; Beltran, S.; Gut, I.G.; Laurie, S.; Piscia, D.; Matalonga, L.; Papakonstantinou, A.; Bullich, G.; Corvo, A.; Fernandez-Callejo, M.; Hernández, C.; Picó, D.; Paramonov, I.; Lochmüller, H.; Gumus, G.; Bros-Facer, V.; Rath, A.; Hanauer, M.; Lagorce, D.; Hongnat, O.; Chahdil, M.; Lebreton, E.; Stevanin, G.; Durr, A.; Davoine, C.-S.; Guillot-Noel, L.; Heinzmann, A.; Coarelli, G.; Bonne, G.; Evangelista, T.; Allamand, V.; Nelson, I.; Yaou, R.B.; Metay, C.; Eymard, B.; Cohen, E.; Atalaia, A.; Stojkovic, T.; Macek, M.; Turnovec, M.; Thomasová, D.; Kremliková, R.P.; Franková, V.; Havlovicová, M.; Lišková, P.; Doležalová, P.; Parkinson, H.; Keane, T.; Freeberg, M.; Thomas, C.; Spalding, D.; Robinson, P.; Danis, D.; Robert, G.; Costa, A.; Patch, C.; Hanna, M.; Houlden, H.; Reilly, M.; Vandrovcova, J.; Efthymiou, S.; Morsy, H.; Cali, E.; Magrinelli, F.; Sisodiya, S.M.; Rohrer, J.; Muntoni, F.; Zaharieva, I.; Sarkozy, A.; Timmerman, V.; Baets, J.; de Vries, G.; De Winter, J.; Beijer, D.; de Jonghe, P.; Van de Vondel, L.; De Ridder, W.; Weckhuysen, S.; Nigro, V.; Mutarelli, M.; Morleo, M.; Pinelli, M.; Varavallo, A.; Banfi, S.; Torella, A.; Musacchia, F.; Piluso, G.; Ferlini, A.; Selvatici, R.; Gualandi, F.; Bigoni, S.; Rossi, R.; Neri, M.; Aretz, S.; Spier, I.; Sommer, A.K.; Peters, S.; Oliveira, C.; Pelaez, J.G.; Matos, A.R.; José, C.S.; Ferreira, M.; Gullo, I.; Fernandes, S.; Garrido, L.; Ferreira, P.; Carneiro, F.; Swertz, M.A.; Johansson, L.; van der Velde, J.K.; van der Vries, G.; Neerincx, P.B.; Ruvolo, D.; Abbott, K.M.; Frederikse, W.S.K.; Zonneveld-Huijssoon, E.; Roelofs-Prins, D.; van Gijn, M.; Köhler, S.; Metcalfe, A.; Verloes, A.; Drunat, S.; Heron, D.; Mignot, C.; Keren, B.; de Sainte Agathe, J.-M.; Rooryck, C.; Lacombe, D.; Trimouille, A.; De la Paz, M.P.; Sánchez, E.B.; Martín, E.L.; Delgado, B.M.; de la Rosa, F.J.A.G.; Ciolfi, A.; Dallapiccola, B.; Pizzi, S.; Radio, F.C.; Tartaglia, M.; Renieri, A.; Furini, S.; Fallerini, C.; Benetti, E.; Balicza, P.; Molnar, M.J.; Maver, A.; Peterlin, B.; Münchau, A.; Lohmann, K.; Herzog, R.; Pauly, M.; Macaya, A.; Cazurro-Gutiérrez, A.; Pérez-Dueñas, B.; Munell, F.; Jarava, C.F.; Masó, L.B.; Marcé-Grau, A.; Colobran, R.; Osorio, A.N.; de Benito, D.N.; Lochmüller, H.; Thompson, R.; Polavarapu, K.; Grimbacher, B.; Beeson, D.; Cossins, J.; Hackman, P.; Johari, M.; Savarese, M.; Udd, B.; Horvath, R.; Chinnery, P.F.; Ratnaike, T.; Gao, F.; Schon, K.; Capella, G.; Valle, L.; Holinski-Feder, E.; Laner, A.; Steinke-Lange, V.; Schröck, E.; Rump, A.; Başak, A.N.; Hemelsoet, D.; Dermaut, B.; Schuermans, N.; Poppe, B.; Verdin, H.; Mei, D.; Vetro, A.; Balestrini, S.; Guerrini, R.; Claeys, K.; Santen, G.W.E.; Bijlsma, E.K.; Hoffer, M.J.V.; Ruivenkamp, C.A.L.; Boztug, K.; Haimel, M.; Maystadt, I.; Cordts, I.; Deschauer, M.; Zaganas, I.; Kokosali, E.; Lambros, M.; Evangeliou, A.; Spilioti, M.; Kapaki, E.; Bourbouli, M.; Striano, P.; Zara, F.; Riva, A.; Iacomino, M.; Uva, P.; Scala, M.; Scudieri, P.; Cilio, M.-R.; Carpancea, E.; Depondt, C.; Lederer, D.; Sznajer, Y.; Duerinckx, S.; Mary, S.; Depienne, C.; Roos, A.; May, P.

In: Human Genomics. (Human Genomics, December 2023, 17(1))

Soares de Lima Y; Department of Gastroenterology, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain.; Arnau-Collell C; Department of Gastroenterology, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain.; Muñoz J; Department of Gastroenterology, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain.; Herrera-Pariente C; Department of Gastroenterology, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain.; Moreira L; Department of Gastroenterology, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain.; Ocaña T; Department of Gastroenterology, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain.; Díaz-Gay M; Department of Gastroenterology, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain.; Department of Cellular and Molecular Medicine, University of California San Diego (UCSD), San Diego, CA, USA.; Franch-Expósito S; Department of Gastroenterology, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain.; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Cuatrecasas M; Department of Pathology, Hospital Clinic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd) and Tumor Bank-Biobank, Barcelona, Spain.; Carballal S; Department of Gastroenterology, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain.; Lopez-Novo A; Fundación Publica Galega de Medicina Xenómica (FPGMX), Grupo de Medicina Xenómica-USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain.; Moreno L; Department of Gastroenterology, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain.; Fernàndez G; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Center for Biomedical Research Network on Rare Diseases (CIBERER), Barcelona, Spain.; Díaz de Bustamante A; Department of Genetics, Hospital Universitario de Mostoles, Mostoles, Spain.; Peters S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Sommer AK; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Spier I; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.; Te Paske IBAW; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; van Herwaarden YJ; Department of Gastroenterology and Hepatology, Radboud University Medical Centre, Nijmegen, The Netherlands.; Castells A; Department of Gastroenterology, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain.; Bujanda L; Gastroenterology Department, Hospital Donostia-Instituto Biodonostia, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Basque Country University (UPV/EHU), San Sebastian, Spain.; Capellà G; Hereditary Cancer Program, Institute of Oncology, Oncobell, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), L'Hospitalet de Llobregat, Barcelona, Spain.; Steinke-Lange V; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ - Center of Medical Genetics Center, Munich, Germany.; Mahmood K; Colorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia.; University of Melbourne Centre for Cancer Research, The University of Melbourne, Parkville, Victoria, Australia.; Melbourne Bioinformatics, The University of Melbourne, Carlton, Victoria, Australia.; Joo JE; Colorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia.; University of Melbourne Centre for Cancer Research, The University of Melbourne, Parkville, Victoria, Australia.; Arnold J; New Zealand Familial Gastrointestinal Cancer Service, Auckland, New Zealand.; Parry S; New Zealand Familial Gastrointestinal Cancer Service, Auckland, New Zealand.; Macrae FA; Colorectal Medicine and Genetics, Royal Melbourne Hospital, Parkville, Victoria, Australia.; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Victoria, Australia.; Department of Medicine, The University of Melbourne, Parkville, Victoria, Australia.; Winship IM; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Victoria, Australia.; Department of Medicine, The University of Melbourne, Parkville, Victoria, Australia.; Rosty C; Colorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia.; University of Melbourne Centre for Cancer Research, The University of Melbourne, Parkville, Victoria, Australia.; Envoi Specialist Pathologists, Brisbane, Queensland, Australia.; University of Queensland, Brisbane, Queensland, Australia.; Cubiella J; Gastroenterology Department, Complexo Hospitalario Universitario de Ourense, Instituto de Investigación Sanitaria Galicia Sur, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Ourense, Spain.; Rodríguez-Alcalde D; Digestive Disease Section, Hospital Universitario de Móstoles, Móstoles, Spain.; Holinski-Feder E; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ - Center of Medical Genetics Center, Munich, Germany.; de Voer R; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Buchanan DD; Colorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia.; University of Melbourne Centre for Cancer Research, The University of Melbourne, Parkville, Victoria, Australia.; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Victoria, Australia.; Aretz S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.; Ruiz-Ponte C; Fundación Publica Galega de Medicina Xenómica (FPGMX), Grupo de Medicina Xenómica-USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain.; Valle L; Hereditary Cancer Program, Institute of Oncology, Oncobell, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), L'Hospitalet de Llobregat, Barcelona, Spain.; Balaguer F; Department of Gastroenterology, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain.; Bonjoch L; Department of Gastroenterology, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain sbel@recerca.clinic.cat bonjoch@recerca.clinic.cat.; Castellvi-Bel S; Department of Gastroenterology, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain sbel@recerca.clinic.cat bonjoch@recerca.clinic.cat.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE