부산대학교 도서관

Kalm, T.; Schob, C.; Völler, H.; Gardeitchik, T.; Gilissen, C.; Pfundt, R.P.; Klöckner, C.; Platzer, K.; Klabunde-Cherwon, A.; Ries, M.; Syrbe, S.; Beccaria, Francesca; Madia, F.; Scala, M.; Zara, F.; Hofstede, F.; Simon, M.E.; van Jaarsveld, R.H.; Oegema, R.; van Gassen, K.L.I.; Holwerda, S.J.B.; Barakat, T.S.; Bouman, A.; van Slegtenhorst, M.; Álvarez, S.; Fernández-Jaén, A.; Porta, J.; Accogli, A.; Mancardi, M.M.; Striano, P.; Iacomino, M.; Chae, J.H.; Jang, SeSong; Kim, S.Y.; Chitayat, D.; Mercimek-Andrews, S.; Depienne, C.; Kampmeier, A.; Kuechler, A.; Surowy, H.; Bertini, E.S.; Radio, F.C.; Mancini, C.; Pizzi, S.; Tartaglia, M.; Gauthier, L.; Genevieve, D.; Tharreau, M.; Azoulay, N.; Zaks-Hoffer, G.; Gilad, N.K.; Orenstein, N.; Bernard, G.; Thiffault, I.; Denecke, J.; Herget, T.; Kortüm, F.; Kubisch, C.; Bähring, R.; Kindler, S.

Am J Hum Genet
American Journal of Human Genetics, 111, 6, pp. 1206-1221

Ham H; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA.; Jing H; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Lamborn IT; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Kober MM; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Koval A; Department of Cell Physiology and Metabolism, Faculty of Medicine, Translational Research Center in Oncohaematology, University of Geneva, Geneva, Switzerland.; Berchiche YA; Laboratory of Chemical Biology and Signal Transduction, The Rockefeller University, New York, NY, USA.; Anderson DE; Advanced Mass Spectrometry Facility, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.; Druey KM; Lung and Vascular Inflammation Section, Laboratory of Allergic Diseases, DIR, NIAID, NIH, Bethesda, MD, USA.; Mandl JN; Lymphocyte Biology Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.; L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France.; Ferreira CR; Skeletal Genomics Unit, Metabolic Medicine Branch, DIR, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, USA.; Freeman AF; Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA.; Ganesan S; Biological Imaging Section, Research Technologies Branch, DIR, NIAID, NIH, Bethesda, MD 20892, USA.; Karsak M; Neuronal and Cellular Signal Transduction, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Mustillo PJ; Nationwide Children's Hospital, Columbus, OH, USA.; The Ohio State University College of Medicine, Columbus, OH, USA.; Teo J; Department of Haematology, The Children's Hospital Westmead, Sydney, New South Wales, Australia.; Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Chatron N; Service de Génétique, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261, INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France.; Lecoquierre F; Université de Rouen Normandie, INSERM U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, Rouen, France.; Oler AJ; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA.; Schmid JP; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.; Pediatric Immunology, University of Zurich, Zurich, Switzerland.; Kuhns DB; Neutrophil Monitoring Lab, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.; Xu X; Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA.; Hauck F; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität (LMU), Munich, Germany.; Al-Herz W; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait.; Wagner M; Institute of Human Genetics, Technical University Munich, School of Medicine and Health, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Department of Pediatrics, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University Hospital of Munich, Munich, Germany.; Terhal PA; Division of Laboratories, Pharmacy and Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Muurinen M; Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.; Barlogis V; APHM, La Timone Children's Hospital, Department of Pediatric Hematology, Immunology, and Oncology, Marseille, France.; Aix-Marseille University, EA 3279 Research Unit, Marseille, France.; Cruz P; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA.; Danielson J; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Stewart H; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals, NHS Foundation Trust, Headington, Oxford, UK.; Loid P; Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.; Rading S; Neuronal and Cellular Signal Transduction, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Keren B; Genetic Departement, Assistance Publique - Hôpitaux de Paris.Sorbonne University, Paris, France.; SeqOIA Laboratory, FMG2025, Paris, France.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Zarember KA; Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA.; Vill K; LMU University Hospital, Department of Pediatrics, Division of Pediatric Neurology, iSPZ Hauner MUC - Munich University Center for Children with Medical and Developmental Complexity, Dr. von Hauner Children's Hospital, Munich, Germany.; Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Olivier KN; Pulmonary Branch, Division of Intramural Research, DIR, National Heart Lung and Blood Institute (NHLBI), NIH, Bethesda, MD, USA.; Lesca G; Service de Génétique, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261, INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France.; Faivre L; Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.; Centre de Génétique et Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Wong M; Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Puel A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM U1163, Paris, France.; Imagine Institute, University of Paris Cité, Paris, France.; Chou J; Division of Immunology, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, United States.; Tusseau M; Genetics Department, Lyon University Hospital, Lyon, France.; The International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France.; Moutsopoulos NM; Oral Immunity and Infection Section, DIR, National Institute of Dental and Craniofacial Research (NIDCR), NIH, Bethesda, MD, USA.; Matthews HF; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA.; Simons C; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Taft RJ; Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.; Illumina, San Diego, CA, USA.; Soldatos A; National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD, USA.; Masle-Farquhar E; Immunogenomics Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia.; School of Clinical Medicine, UNSW Sydney, Sydney, NSW, Australia.; Pittaluga S; Laboratory of Pathology, Center for Cancer Research, NCI, NIH, Bethesda, MD, USA.; Brink R; St. Vincent's Clinical School, UNSW, Sydney, NSW, Australia.; B Cell Biology Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Fink DL; Neutrophil Monitoring Lab, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.; Kong HH; Cutaneous Microbiome and Inflammation Section, Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, USA.; Kabat J; Biological Imaging Section, Research Technologies Branch, DIR, NIAID, NIH, Bethesda, MD 20892, USA.; Kim WS; Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Meguro K; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Hsu AP; Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA.; Gu J; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA.; Stoddard J; Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, USA.; Banos-Pinero B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK.; Slack M; Division of Allergy and Immunology, Department of Pediatrics, University of Rochester Medical Center and Golisano Children's Hospital, Rochester, NY, USA.; Trivellin G; Section on Endocrinology and Genetics (SEGEN), DIR, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA.; Mazel B; Centre de Génétique et Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, CHU Dijon Bourgogne, Dijon, France.; Soomann M; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.; Li S; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA.; Watts VJ; Department of Medicinal Chemistry and Molecular Pharmacology, Purdue University, West Lafayette, IN, USA.; Stratakis CA; Section on Endocrinology and Genetics (SEGEN), DIR, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA.; Rodriguez-Quevedo MF; Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA.; Bruel AL; Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Lipsanen-Nyman M; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Saultier P; APHM, La Timone Children's Hospital, Department of Pediatric Hematology, Immunology, and Oncology, Marseille, France.; Aix-Marseille University, INSERM, National Research Institute for Agriculture, Food and Environment (INRAe), Cardiovascular and Nutrition Research Center (C2VN), Marseille, France.; Jain R; Clinical Immunology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Lehalle D; AP-HP Sorbonne Université, UF de Génétique Clinique, Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, Hôpital Trousseau, Paris, France.; Torres D; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Sullivan KE; Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Barbarot S; Department of Dermatology, CHU Nantes, INRAE, UMR 1280, PhAN, Nantes Université, Nantes, France.; Neu A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Duffourd Y; Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Similuk M; Centralized Sequencing Program, DIR, NIAID, NIH, Bethesda, MD, USA.; McWalter K; GeneDx, Gaithersburg, MD, USA.; Blanc P; SeqOIA Laboratory, FMG2025, Paris, France.; Bézieau S; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.; L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France.; Jin T; Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA.; Geha RS; Division of Immunology, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, United States.; Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM U1163, Paris, France.; Imagine Institute, University of Paris Cité, Paris, France.; Howard Hughes Medical Institute, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France.; Makitie OM; Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Edery P; Service de Génétique, Hospices Civils de Lyon, Lyon, France.; Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France.; Christodoulou J; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Specialty of Child and Adolescent Health, University of Sydney, Sydney, Australia.; Germain RN; Lymphocyte Biology Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA.; Goodnow CC; Immunogenomics Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Cellular Genomics Futures Institute, Sydney, NSW, Australia.; Sakmar TP; Laboratory of Chemical Biology and Signal Transduction, The Rockefeller University, New York, NY, USA.; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Neurogeriatrics, Stockholm, Sweden.; Billadeau DD; Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA.; Küry S; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.; L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France.; Katanaev VL; Department of Cell Physiology and Metabolism, Faculty of Medicine, Translational Research Center in Oncohaematology, University of Geneva, Geneva, Switzerland.; Institute of Life Sciences and Biomedicine, Far Eastern Federal University, Vladivostok, Russia.; Zhang Y; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Lenardo MJ; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA.; Su HC; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Kubisch, Anne C.; Auspos, Patricia; Taylor, Sydney; Dewar, Tom

102 Nat'l Civic Rev. 61 (2013) / National Civic Review, Vol. 102, Issue 3 (Fall 2013), pp. 61-71

Terhal, P.; Venhuizen, A.J.; Cristobal, A.; Maurice, M.M.; Lessel, D.; Hempel, M.; Kubisch, C.; Tan, W.-H.; Alswaid, A.; Grün, R.; Ragab, N.; Hahn, H.; Kornak, U.; Alzaidan, H.I.; von Kroge, S.; Oheim, R.; Novais, E.; Tripolszki, K.; Bauer, P.; Bertoli-Avella, A.; Fischer-Zirnsak, B.; Nievelstein, R.A.J.; van Dijk, A.; Nikkels, P.

In: American Journal of Human Genetics. (American Journal of Human Genetics, 7 September 2023, 110(9):1470-1481)

Daniel Stern; Tanja C. Meyer; Fridolin Treindl; Hans Werner Mages; Maren Krüger; Martin Skiba; Jan Philipp Krüger; Christian M. Zobel; Maximilian Schreiner; Marica Grossegesse; Thomas Rinner; Caroline Peine; Anna Stoliaroff-Pépin; Thomas Harder; Natalie Hofmann; Janine Michel; Andreas Nitsche; Silke Stahlberg; Antje Kneuer; Anna Sandoni; Ulrike Kubisch; Martin Schlaud; Annette Mankertz; Tatjana Schwarz; Victor M. Corman; Marcel A. Müller; Christian Drosten; Kathrin de la Rosa; Lars Schaade; Martin B. Dorner; Brigitte G. Dorner

Scientific Reports, Vol 13, Iss 1, Pp 1-22 (2023)

Nauth T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Philipp M; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Section of Pharmacogenomics, Eberhard-Karls-University Tübingen, Tübingen, Germany.; Renner S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Burkhalter MD; Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Section of Pharmacogenomics, Eberhard-Karls-University Tübingen, Tübingen, Germany.; Schüler H; Department of Cardiology, University Heart & Vascular Center Hamburg, Hamburg, Germany.; Saygi C; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Händler K; Institute of Human Genetics, Universitätsklinikum Schleswig-Holstein (UKSH), University of Lübeck and University of Kiel, Lübeck, Germany.; Siebels B; Section Mass Spectrometry and Proteomics, Center for Diagnostics.; Busch A; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Mair T; Section Mass Spectrometry and Proteomics, Center for Diagnostics.; Rickassel V; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Deden S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hoffer K; University Cancer Center Hamburg (UCCH) Kinomics Core Facility, Hubertus Wald Tumorzentrum-UCCH; and.; Department of Radiotherapy and Radiation Oncology, Hubertus Wald Tumorzentrum-UCCH; University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Olfe J; Clinic for Children's Heart Medicine and Adult Congenital Heart Disease and.; Mir TS; Clinic for Children's Heart Medicine and Adult Congenital Heart Disease and.; von Kodolitsch Y; Department of Cardiology, University Heart & Vascular Center Hamburg, Hamburg, Germany.; Girdauskas E; Department of Cardiovascular Surgery, University Heart & Vascular Center Hamburg, Hamburg, Germany.; Rybczynski M; Department of Cardiology, University Heart & Vascular Center Hamburg, Hamburg, Germany.; Kriegs M; University Cancer Center Hamburg (UCCH) Kinomics Core Facility, Hubertus Wald Tumorzentrum-UCCH; and.; Department of Radiotherapy and Radiation Oncology, Hubertus Wald Tumorzentrum-UCCH; University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Voß H; Section Mass Spectrometry and Proteomics, Center for Diagnostics.; Sauvigny T; Department of Neurosurgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Spielmann M; Institute of Human Genetics, Universitätsklinikum Schleswig-Holstein (UKSH), University of Lübeck and University of Kiel, Lübeck, Germany.; Human Molecular Genetics Group, Max Planck Institute for Molecular Genetics, Berlin, Germany.; DZHK e.V. (German Center for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, Germany.; Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Krasemann S; Institute of Neuropathology and.; Core Facility for Experimental Histo-Pathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Demal TJ; Department of Cardiovascular Surgery, University Heart & Vascular Center Hamburg, Hamburg, Germany.; Rosenberger G; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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

Guanglu Li; Shaojie Duan; International Headache Genetics Consortium (IHGC); Tao Zheng; Tiantian Zhu; Baoquan Qu; Lei Liu; Zunjing Liu; Verneri Anttila; Ville Artto; Andrea C Belin; Anna Bjornsdottir; Gyda Bjornsdottir; Dorret I Boomsma; Sigrid Børte; Mona A Chalmer; Daniel I Chasman; Bru Cormand; Ester Cuenca-Leon; George Davey-Smith; Irene de Boer; Martin Dichgans; Tonu Esko; Tobias Freilinger; Padhraig Gormley; Lyn R Griffiths; Eija Hämäläinen; Thomas F Hansen; Aster VE Harder; Heidi Hautakangas; Marjo Hiekkala; Maria G Hrafnsdottir; M. Arfan Ikram; Marjo-Riitta Järvelin; Risto Kajanne; Mikko Kallela; Jaakko Kaprio; Mari Kaunisto; Lisette JA Kogelman; Espen S Kristoffersen; Christian Kubisch; Mitja Kurki; Tobias Kurth; Lenore Launer; Terho Lehtimäki; Davor Lessel; Lannie Ligthart; Sigurdur H Magnusson; Rainer Malik; Bertram Müller-Myhsok; Carrie Northover; Dale R Nyholt; Jes Olesen; Aarno Palotie; Priit Palta; Linda M Pedersen; Nancy Pedersen; Matti Pirinen; Danielle Posthuma; Patricia Pozo-Rosich; Alice Pressman; Olli Raitakari; Caroline Ran; Gudrun R Sigurdardottir; Hreinn Stefansson; Kari Stefansson; Olafur A Sveinsson; Gisela M Terwindt; Thorgeir E Thorgeirsson; Arn MJM vanden Maagdenberg; Cornelia van Duijn; Maija Wessman; Bendik S Winsvold; John-Anker Zwart.

Frontiers in Immunology, Vol 15 (2024)

Kloth, K.; Lozic, B.; Tagoe, J.; Hoffer, M.J.V.; Ven, A. van der; Thiele, H.; Altmuller, J.; Kubisch, C.; Au, P.Y.B.; Denecke, J.; Bijlsma, E.K.; Lessel, D.

Neurogenetics

Bryois J; Skene NG; Hansen TF; Kogelman LJA; Watson HJ; Liu Z; Eating Disorders Working Group of the Psychiatric Genomics Consortium; International Headache Genetics Consortium; 23andMe Research Team; Brueggeman L; Breen G; Bulik CM; Arenas E; Hjerling-Leffler J; Sullivan PF; Adan R; Alfredsson L; Ando T; Andreassen O; Baker J; Bergen A; Berrettini W; Birgegård A; Boden J; Boehm I; Boni C; Boraska Perica V; Brandt H; Buehren K; Bulik C; Burghardt R; Cassina M; Cichon S; Clementi M; Coleman J; Cone R; Courtet P; Crawford S; Crow S; Crowley J; Danner U; Davis O; de Zwaan M; Dedoussis G; Degortes D; DeSocio J; Dick D; Dikeos D; Dina C; Dmitrzak-Weglarz M; Docampo Martinez E; Duncan L; Egberts K; Ehrlich S; Escaramís G; Esko T; Estivill X; Farmer A; Favaro A; Fernández-Aranda F; Fichter M; Fischer K; Föcker M; Foretova L; Forstner A; Forzan M; Franklin C; Gallinger S; Gaspar H; Giegling I; Giuranna J; Giusti-Rodríquez P; Gonidakis F; Gordon S; Gorwood P; Gratacos Mayora M; Grove J; Guillaume S; Guo Y; Hakonarson H; Halmi K; Hanscombe K; Hatzikotoulas K; Hauser J; Hebebrand J; Helder S; Henders A; Herms S; Herpertz-Dahlmann B; Herzog W; Hinney A; Horwood LJ; Hübel C; Huckins L; Hudson J; Imgart H; Inoko H; Janout V; Jiménez-Murcia S; Johnson C; Jordan J; Julià A; Juréus A; Kalsi G; Kaminská D; Kaplan A; Kaprio J; Karhunen L; Karwautz A; Kas M; Kaye W; Kennedy J; Kennedy M; Keski-Rahkonen A; Kiezebrink K; Kim YR; Kirk K; Klareskog L; Klump K; Knudsen GP; La Via M; Landén M; Larsen J; Le Hellard S; Leppä V; Levitan R; Li D; Lichtenstein P; Lilenfeld L; Lin BD; Lissowska J; Luykx J; Magistretti P; Maj M; Mannik K; Marsal S; Marshall C; Martin N; Mattheisen M; Mattingsdal M; McDevitt S; McGuffin P; Medland S; Metspalu A; Meulenbelt I; Micali N; Mitchell J; Mitchell K; Monteleone P; Monteleone AM; Montgomery G; Mortensen PB; Munn-Chernoff M; Nacmias B; Navratilova M; Norring C; Ntalla I; Olsen C; Ophoff R; O'Toole J; Padyukov L; Palotie A; Pantel J; Papezova H; Parker R; Pearson J; Pedersen N; Petersen L; Pinto D; Purves K; Rabionet R; Raevuori A; Ramoz N; Reichborn-Kjennerud T; Ricca V; Ripatti S; Ripke S; Ritschel F; Roberts M; Rotondo A; Rujescu D; Rybakowski F; Santonastaso P; Scherag A; Scherer S; Schmidt U; Schork N; Schosser A; Seitz J; Slachtova L; Slagboom PE; Slof-Op 't Landt M; Slopien A; Sorbi S; Strober M; Stuber G; Sullivan P; Świątkowska B; Szatkiewicz J; Tachmazidou I; Tenconi E; Thornton L; Tortorella A; Tozzi F; Treasure J; Tsitsika A; Tyszkiewicz-Nwafor M; Tziouvas K; van Elburg A; van Furth E; Wade T; Wagner G; Walton E; Watson H; Werge T; Whiteman D; Widen E; Woodside DB; Yao S; Yilmaz Z; Zeggini E; Zerwas S; Zipfel S; Anttila V; Artto V; Belin AC; de Boer I; Boomsma DI; Børte S; Chasman DI; Cherkas L; Christensen AF; Cormand B; Cuenca-Leon E; Davey-Smith G; Dichgans M; van Duijn C; Esserlind AL; Ferrari M; Frants RR; Freilinger T; Furlotte N; Gormley P; Griffiths L; Hamalainen E; Hiekkala M; Ikram MA; Ingason A; Järvelin MR; Kajanne R; Kallela M; Kaunisto M; Kubisch C; Kurki M; Kurth T; Launer L; Lehtimaki T; Lessel D; Ligthart L; Litterman N; Maagdenberg AVD; Macaya A; Malik R; Mangino M; McMahon G; Muller-Myhsok B; Neale BM; Northover C; Nyholt DR; Olesen J; Palta P; Pedersen L; Posthuma D; Pozo-Rosich P; Pressman A; Raitakari O; Schürks M; Sintas C; Stefansson K; Stefansson H; Steinberg S; Strachan D; Terwindt G; Vila-Pueyo M; Wessman M; Winsvold BS; Zhao H; Zwart JA; Agee M; Alipanahi B; Auton A; Bell R; Bryc K; Elson S; Fontanillas P; Heilbron K; Hinds D; Huber K; Kleinman A; McCreight J; McIntyre M; Mountain J; Noblin E; Pitts S; Sathirapongsasuti J; Sazonova O; Shelton J; Shringarpure S; Tian C; Tung J; Vacic V; Wilson

Articles publicats en revistes (Genètica, Microbiologia i Estadística)
Dipòsit Digital de la UB
instname
Universidad de Barcelona
Nature genetics
Nature Genetics, Vol. 52, No 5 (2020) pp. 482-493
Schmidt, U 2020, 'Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease', Nature Genetics, vol. 52, no. 5, pp. 482-493. https://doi.org/10.1038/s41588-020-0610-9
Schmidt, U 2020, ' Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease ', Nature Genetics, vol. 52, no. 5, pp. 482-493 . https://doi.org/10.1038/s41588-020-0610-9
Nat. Genet. 52, 482-493 (2020)
Nature Genetics, vol 52, iss 5
Bryois, J, Skene, N G, Hansen, T F, Kogelman, L J A, Watson, H J, Liu, Z, Brueggeman, L, Breen, G, Bulik, C M, Arenas, E, Hjerling-Leffler, J, Sullivan, P F & Eating Disorders Working Group of the Psychiatric Genomics Consortium 2020, 'Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease', Nature Genetics, vol. 52, no. 5, pp. 482-493. https://doi.org/10.1038/s41588-020-0610-9

Uhlenbusch, N.; Mund, M.; Rillig, F.; Weiler-Normann, C.; Herget, T.; Kubisch, C.; Löwe, B.; Schramm, C.

Journal of Psychosomatic Research. 169

Winsvold, B.S.; Harder, A.V.E.; Ran, C.; Chalmer, M.A.; Dalmasso, M.C.; Ferkingstad, E.; Tripathi, K.P.; Bacchelli, E.; Borte, S.; Fourier, C.; Petersen, A.S.; Vijfhuizen, L.S.; Magnusson, S.H.; O'Connor, E.; Bjornsdottir, G.; Häppölä, P.; Wang, Y.F.; Callesen, I.; Kelderman, T.; Gallardo, V.J.; Boer, I. de; Olofsgård, F.J.; Heinze, K.; Lund, N.; Thomas, L.F.; Hsu, C.L.; Pirinen, M.; Hautakangas, H.; Ribasés, M.; Guerzoni, S.; Sivakumar, P.; Yip, J.; Heinze, A.; Küçükali, F.; Ostrowski, S.R.; Pedersen, O.B.; Kristoffersen, E.S.; Martinsen, A.E.; Artigas, M.S.; Lagrata, S.; Cainazzo, M.M.; Adebimpe, J.; Quinn, O.; Göbel, C.; Cirkel, A.; Volk, A.E.; Heilmann-Heimbach, S.; Skogholt, A.H.; Gabrielsen, M.E.; Wilbrink, L.A.; Danno, D.; Mehta, D.; Guobjartsson, D.F.; Rosendaal, F.R.; Dijk, K.W. van; Fronczek, R.; Wagner, M.; Scherer, M.; Göbel, H.; Sleegers, K.; Sveinsson, O.A.; Pani, L.; Zoli, M.; Ramos-Quiroga, J.A.; Dardiotis, E.; Steinberg, A.; Riedel-Heller, S.; Sjöstrand, C.; Thorgeirsson, T.E.; Stefansson, H.; Southgate, L.; Trembath, R.C.; Vandrovcova, J.; Noordam, R.; Paemeleire, K.; Stefansson, K.; Fann, C.S.J.; Waldenlind, E.; Tronvik, E.; Jensen, R.H.; Chen, S.P.; Houlden, H.; Terwindt, G.M.; Kubisch, C.; Maestrini, E.; Vikelis, M.; Pozo-Rosich, P.; Belin, A.C.; Matharu, M.; Maagdenberg, A.M.J.M. van den; Hansen, T.F.; Ramirez, A.; Zwart, J.A.; HUNT All Headache; Int Headache Genetics Consortium; Genomic Consortium; Int Consortium Cluster Headache

3 Criminology & Pub. Pol'y 259 (2003-2004) / Criminology & Public Policy, Vol. 3, Issue 2 (March 2004), pp. 259-264

Xu, Linda; Jensen, Hanne; Johnston, Jennifer J.; Di Maria, Emilio; Kloth, Katja; Cristea, Ileana; Sapp, Julie C.; Darling, Thomas N.; Huryn, Laryssa A.; Tranebjærg, Lisbeth; Cinotti, Elisa; Kubisch, Christian; Rødahl, Eyvind; Bruland, Ove; Biesecker, Leslie G.; Houge, Gunnar; Bredrup, Cecilie

The American Journal of Human Genetics. 103:976-983

van der Ven AT; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany.; Institute of Human Genetics, University Heidelberg, Germany.; Kruse C; Altona Children's Hospital, Hamburg, Germany.; Blohm M; Altona Children's Hospital, Hamburg, Germany.; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.; Grolle B; Altona Children's Hospital, Hamburg, Germany.; Pediatric Practice, Damm 49, Pinneberg, Germany.; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany.; Institute of Human Genetics, University of Regensburg, Germany; and.; Institute of Clinical Human Genetics, University Hospital Regensburg, Germany.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Silve, A.; Kian, C. B.; Papachristou, I.; Kubisch, C.; Nazarova, N.; Wüstner, R.; Leber, K.; Strässner, R.; Frey, W.

Bioresource technology, 269, 179-187
Bioresource Technology

Alex V. Postma; Christina K. Rapp; Katrin Knoflach; Alexander E. Volk; Johannes R. Lemke; Maximilian Ackermann; Nicolas Regamey; Philipp Latzin; Lucas Celant; Samara M.A. Jansen; Harm J. Bogaard; Aho Ilgun; Mariëlle Alders; Karin Y. van Spaendonck-Zwarts; Danny Jonigk; Christoph Klein; Stefan Gräf; Christian Kubisch; Arjan C. Houweling; Matthias Griese

Genetics in Medicine Open, Vol 1, Iss 1, Pp 100811- (2023)

Saadi A; Service de neurologie, Etablissement Hospitalier Specialisé de Ben Aknoun, Université Benyoucef Benkhedda, Algiers, Algeria.; Laboratoire de Neurosciences, Service de neurologie, Centre Hospitalo Universitaire Mustapha Bacha, Université Benyoucef Benkhedda Alger, Algiers, Algeria.; Navarro C; INSERM, MMG, Aix Marseille University, Marseille, France.; Neoflow Therapeutics, 61 boulevard des Dames, 13002, Marseille, France.; Ozalp O; Genetic Diagnosis Center, Adana City Training and Research Hospital University of Health Sciences, Adana, Turkey.; Lourenco CM; Neurogenetics Unit-Inborn Errors of Metabolism Clinics, National Reference Center for Rare Diseases, Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, Brazil.; Department of Specialized Education, Personalized Medicine Area, DLE/Grupo Pardini, Rio de Janeiro, Brazil.; Fayek R; INSERM, MMG, Aix Marseille University, Marseille, France.; Da Silva N; INSERM, MMG, Aix Marseille University, Marseille, France.; Chaouch A; Service de neurophysiologie, Etablissement Hospitalier Specialisé, Algiers, Algeria.; Benahmed M; Service d'anatomo-pathologie, Centre Pierre Marie Curie, Algiers, Algeria.; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Munnich A; Department of Clinical Genetics, Institut de Recherche Necker Enfants Malades, Paris, France.; Lévy N; INSERM, MMG, Aix Marseille University, Marseille, France.; Department of Medical Genetics, La Timone Hospital, APHM, Marseille, France.; Roll P; INSERM, MMG, Aix Marseille University, Marseille, France.; Cell Biology Laboratory, La Timone Hospital, APHM, Marseille, France.; Pacha LA; Laboratoire de Neurosciences, Service de neurologie, Centre Hospitalo Universitaire Mustapha Bacha, Université Benyoucef Benkhedda Alger, Algiers, Algeria.; Chaouch M; Service de neurologie, Etablissement Hospitalier Specialisé de Ben Aknoun, Université Benyoucef Benkhedda, Algiers, Algeria.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, University Hospital of the Paracelsus Medical University Salzburg, Salzburg, Austria.; De Sandre-Giovannoli A; INSERM, MMG, Aix Marseille University, Marseille, France.; Department of Medical Genetics, La Timone Hospital, APHM, Marseille, France.; Biological Resource Center (CRB-TAC), La Timone Hospital, APHM, Marseille, France.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Schmidt A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Danyel M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Grundmann K; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Institut für Medizinische Biometrie, Informatik und Epidemiologie, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Engels H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Peters S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Moosa S; Institute for Medical Genetics, Stellenbosch University, Cape Town, South Africa.; Averdunk L; Department of Pediatrics, University Hospital Düsseldorf, Düsseldorf, Germany.; Boschann F; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Sczakiel HL; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Schwartzmann S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Mensah MA; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Pantel JT; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Holtgrewe M; Core Uni Bioinformatics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bösch A; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Weiß C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Weinhold N; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Suter AA; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Stoltenburg C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Neugebauer J; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kallinich T; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kaindl AM; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Holzhauer S; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bührer C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bufler P; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kornak U; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Ott CE; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Schülke M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Nguyen HHP; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Hoffjan S; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Grasemann C; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Rothoeft T; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Brinkmann F; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Matar N; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Sivalingam S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Perne C; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Mangold E; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kreiss M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Cremer K; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Betz RC; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Mücke M; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Grigull L; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Klockgether T; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Spier I; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Heimbach A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bender T; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Brand F; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Stieber C; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Morawiec AM; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Karakostas P; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Schäfer VS; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bernsen S; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Weydt P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Castro-Gomez S; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Aziz A; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Grobe-Einsler M; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kimmich O; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kobeleva X; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Önder D; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Lesmann H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kumar S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Tacik P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bhasin MA; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Incardona P; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Lee-Kirsch MA; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Berner R; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Schuetz C; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Körholz J; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Kretschmer T; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Di Donato N; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.; Schröck E; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.; Heinen A; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Reuner U; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Neurology, University Hospital Carl Gustav Carus, Dresden, Germany.; Hanßke AM; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Manka E; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Munteanu M; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Cordula K; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Hirtz R; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Schlapakow E; Department of Neurology, University Hospital Halle, Halle, Germany.; Schlein C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Lisfeld J; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Kubisch C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Herget T; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Hempel M; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Weiler-Normann C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Ullrich K; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Schramm C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Rudolph C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Rillig F; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Groffmann M; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Muntau A; Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Tibelius A; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Zawada M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Kaufmann L; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Okun PM; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Kotzaeridou U; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Hoffmann GF; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Choukair D; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Bettendorf M; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Spielmann M; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Ripke A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Pauly M; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute for Neurogenetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Münchau A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Hüning I; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Hanker B; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Bäumer T; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Herzog R; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Hellenbroich Y; Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Westphal DS; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Strom T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Kovacs R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Mayerhanser K; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Graf E; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Oexle K; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Mirza-Schreiber N; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Schatz U; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Krenn M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Neurology, Medical University of Vienna, Wien, Austria.; Makowski C; Department of Paediatrics, Adolescent Medicine and Neonatology, München, Germany.; Weigand H; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Schröder S; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Rohlfs M; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Vill K; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Hauck F; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Borggraefe I; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Müller-Felber W; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Kehrer M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Demidov G; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Beck-Wödl S; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Graessner H; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Sturm M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Zeltner L; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Schöls LJ; Department of Neurology, University of Tübingen, Tübingen, Germany.; Magg J; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Bevot A; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Kehrer C; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Kaiser N; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Turro E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Grüters-Kieslich A; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Klein C; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Mundlos S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Nöthen M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Riess O; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Krude H; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany. pkrawitz@uni-bonn.de.; Haack T; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: PubMed not MEDLINE; MEDLINE

Demal TJ; Department of Cardiovascular Surgery (T.J.D., M.S., H.R., C.D.), University Heart and Vascular Center, Hamburg, Germany.; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany (T.J.D., C.M., P.F., K.K., C.K., G.R.).; German Center for Cardiovascular Research (DZHK), partner site Hamburg/Kiel/Lübeck, Germany (T.J.D., H.R.).; Sachse M; Department of Cardiovascular Surgery (T.J.D., M.S., H.R., C.D.), University Heart and Vascular Center, Hamburg, Germany.; Department of Cardiovascular Research, Medical Faculty Mannheim, Heidelberg University, Germany (M.S.).; German Center for Cardiovascular Research (DZHK), partner site Heidelberg/Mannheim, Germany (M.S.).; Metzlaff C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany (T.J.D., C.M., P.F., K.K., C.K., G.R.).; Schüler H; Department of Cardiology (H.S., K.S., Y.K., M.R.), University Heart and Vascular Center, Hamburg, Germany.; Szöcs K; Department of Cardiology (H.S., K.S., Y.K., M.R.), University Heart and Vascular Center, Hamburg, Germany.; Olfe J; Pediatric Cardiology Clinic (J.O., V.S., T.S.M.), University Heart and Vascular Center, Hamburg, Germany.; Stark V; Pediatric Cardiology Clinic (J.O., V.S., T.S.M.), University Heart and Vascular Center, Hamburg, Germany.; Frommolt P; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany (T.J.D., C.M., P.F., K.K., C.K., G.R.).; von Kodolitsch Y; Department of Cardiology (H.S., K.S., Y.K., M.R.), University Heart and Vascular Center, Hamburg, Germany.; Mir TS; Pediatric Cardiology Clinic (J.O., V.S., T.S.M.), University Heart and Vascular Center, Hamburg, Germany.; Rybczynski M; Department of Cardiology (H.S., K.S., Y.K., M.R.), University Heart and Vascular Center, Hamburg, Germany.; Reichenspurner H; Department of Cardiovascular Surgery (T.J.D., M.S., H.R., C.D.), University Heart and Vascular Center, Hamburg, Germany.; German Center for Cardiovascular Research (DZHK), partner site Hamburg/Kiel/Lübeck, Germany (T.J.D., H.R.).; Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany (T.J.D., C.M., P.F., K.K., C.K., G.R.).; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany (T.J.D., C.M., P.F., K.K., C.K., G.R.).; Detter C; Department of Cardiovascular Surgery (T.J.D., M.S., H.R., C.D.), University Heart and Vascular Center, Hamburg, Germany.; Rosenberger G; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany (T.J.D., C.M., P.F., K.K., C.K., G.R.).

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

Kruger, A.; Kubisch, C.; Preim, B.; Strauss, G.

IEEE Transactions on Visualization and Computer Graphics IEEE Trans. Visual. Comput. Graphics Visualization and Computer Graphics, IEEE Transactions on. 14(6):1491-1498 Jan, 2008