Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Giachino DF"'
Autor:
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škoric-Milosavljevic D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF, Ackerman MJ, Brugada R, Brugada-Terradellas J, Gimeno JR, Hasdemir C, Guicheney P, Priori SG, Schulze-Bahr E, Makita N, Schwartz PJ, Shimizu W, Aiba T, Schott JJ, Redon R, Ohno S, Probst V, Behr ER, Barc J, Bezzina CR, Nantes Referral Center for inherited cardiac arrhythmia
Publikováno v:
GENETICS IN MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
PURPOSE: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e87c9928a8521edcd91c04ed927a7b68
https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdf
https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdf
Autor:
Giachino, Df, Regazzoni, S, Bardessono, M, DE MARCHI, M, Gregori, Dario, PIEDMONT STUDY GRP GENETICS IBD
To evaluate to what extent an inefficient statistical model affects the study of genetic factors in extra-intestinal manifestations of Crohn's disease (CD) and how clinical predictions can be improved using more adequate techniques.Extra-intestinal m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c61a3f88f86fa80b1370ae701a5f65f5
http://hdl.handle.net/2318/37025
http://hdl.handle.net/2318/37025
Autor:
Giachino DF, Regazzoni S, Bardessono M, De Marchi M, Gregori D, Piedmont Study Group on the Genetics of IBD, Giachino, Daniela F, Regazzoni, Silvia, Bardessono, Marco, De Marchi, Mario, Gregori, Dario
Publikováno v:
Current Medical Research & Opinion; Jul2007, Vol. 23 Issue 7, p1657-1665, 9p
Autor:
Sutera S; Oral Medicine and Oral Oncology Unit, Department of Oncology, University of Turin, San Luigi Gonzaga Hospital, 10043 Orbassano, Italy., Giachino DF; Medical Genetics, Department of Clinical and Biological Sciences, University of Turin, San Luigi Gonzaga Hospital, 10043 Orbassano, Italy., Pelle A; Medical Genetics, Department of Clinical and Biological Sciences, University of Turin, San Luigi Gonzaga Hospital, 10043 Orbassano, Italy., Zuntini R; Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Policlinico S.Orsola-Malpighi Hospital of Bologna and Center for Studies on Hereditary Cancer, 40138 Bologna, Italy., Pentenero M; Oral Medicine and Oral Oncology Unit, Department of Oncology, University of Turin, San Luigi Gonzaga Hospital, 10043 Orbassano, Italy.
Publikováno v:
Biomedicines [Biomedicines] 2022 Dec 29; Vol. 11 (1). Date of Electronic Publication: 2022 Dec 29.
Autor:
Barc J; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. julien.barc@univ-nantes.fr.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart, . julien.barc@univ-nantes.fr., Tadros R; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Medicine, Cardiovascular Genetics Center, Montreal Heart Institute and Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada., Glinge C; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; The Department of Cardiology, The Heart Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Chiang DY; Medicine, Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA, USA., Jouni M; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Simonet F; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Jurgens SJ; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Baudic M; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Nicastro M; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Potet F; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Offerhaus JA; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Walsh R; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Choi SH; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Verkerk AO; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Medical Biology, University of Amsterdam, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Mizusawa Y; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Anys S; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Minois D; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Arnaud M; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Duchateau J; IHU Liryc, Electrophysiology and Heart Modeling Institute, fondation Bordeaux Université, Pessac-Bordeaux, France.; Université Bordeaux, Centre de recherche Cardio-Thoracique de Bordeaux, Bordeaux, France.; INSERM, Centre de recherche Cardio-Thoracique de Bordeaux, Bordeaux, France.; Electrophysiology and Ablation Unit, Bordeaux University Hospital (CHU), Pessac, France., Wijeyeratne YD; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.; Cardiology Clinical Academic Group, St. George's University Hospitals' NHS Foundation Trust, London, UK., Muir A; Cardiology, Belfast Health and Social Care Trust and Queen's University Belfast, Belfast, UK., Papadakis M; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.; Cardiology Clinical Academic Group, St. George's University Hospitals' NHS Foundation Trust, London, UK., Castelletti S; Center for Cardiac Arrhythmias of Genetic Origin, Istituto Auxologico Italiano IRCCS, Milan, Italy., Torchio M; Laboratory of Cardiovascular Genetics, Istituto Auxologico Italiano IRCCS, Cusano Milanino, Italy., Ortuño CG; Cardiogenetic, Unidad de Cardiopatías Familiares, Instituto Murciano de Investigación Biosanitaria, Universidad de Murcia, Murcia, Spain., Lacunza J; Cardiology, Unidad de Cardiopatías Familiares, Hospital Universitario Virgen de la Arrixaca, Universidad de Murcia, Murcia, Spain., Giachino DF; Clinical and Biological Sciences, Medical Genetics, University of Torino, Orbassano, Italy.; Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano, Italy., Cerrato N; Medical Sciences, Cardiology, University of Torino, Torino, Italy., Martins RP; Cardiologie et Maladies vasculaires, Université Rennes1 - CHU Rennes, Rennes, France., Campuzano O; Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.; Medical Science Department, University of Girona, Girona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Biochemistry and Molecular Genetics Department, Hospital Clinic, University of Barcelona-IDIBAPS, Barcelona, Spain., Van Dooren S; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Centre for Medical Genetics, research group Reproduction and Genetics, research cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium., Thollet A; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Kyndt F; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Mazzanti A; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Molecular Cardiology, ICS Maugeri, IRCCS and Department of Molecular Medicine, University of Pavia, Pavia, Italy., Clémenty N; Department of Cardiology, CHU Tours, Tours, France., Bisson A; Department of Cardiology, CHU Tours, Tours, France., Corveleyn A; Department of Human Genetics, Catholic University Leuven, Leuven, Belgium., Stallmeyer B; University Hospital Münster, Institute for Genetics of Heart Diseases (IfGH), Münster, Germany., Dittmann S; University Hospital Münster, Institute for Genetics of Heart Diseases (IfGH), Münster, Germany., Saenen J; Cardiology, Electrophysiology - Cardiogenetics, University of Antwerp/Antwerp University Hospital, Edegem, Belgium., Noël A; Department of Cardiology, University Hospital of Brest, Brest, France., Honarbakhsh S; Cardiology, Medicine, Barts Heart Centre, London, UK., Rudic B; Department 1st of Medicine, Cardiology, University Medical Center Mannheim, Mannheim, Germany.; German Center for Cardiovascular Research (DZHK), Mannheim, Germany., Marzak H; Department of Cardiology, University Hospital of Strasbourg, Strasbourg, France., Rowe MK; Medicine, Cardiology, Western University, London, Ontario, Canada., Federspiel C; Department of Cardiovascular Medicine, Vendée Hospital, Service de Cardiologie, La Roche sur Yon, France., Le Page S; Service de cardiologie, CHU Angers, Angers, France., Placide L; Department of Cardiology, CHU Montpellier, Montpellier, France., Milhem A; Department of Cardiology, CH La Rochelle, La Rochelle, France., Barajas-Martinez H; Lankenau Institute for Medical Research, Wynnewood, PA, USA., Beckmann BM; Department of Medicine I, University Hospital, LMU Munich, Munich, Germany.; University Hospital of the Johann Wolfgang Goethe University Frankfurt, Institute of Legal Medicine, Frankfurt, Germany., Krapels IP; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Steinfurt J; Department of Cardiology and Angiology I, Heart Center, University Freiburg, Freiburg, Germany., Winkel BG; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; The Department of Cardiology, The Heart Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Jabbari R; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; The Department of Cardiology, The Heart Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Shoemaker MB; Medicine, Cardiology, Vanderbilt University Medical Center, Nashville, TN, USA., Boukens BJ; Department of Medical Biology, University of Amsterdam, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Škorić-Milosavljević D; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Bikker H; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Genome Diagnostics Laboratory, Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Manevy F; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Lichtner P; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Ribasés M; Psychiatric Genetics Unit, Institute Vall d'Hebron Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain., Meitinger T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Müller-Nurasyid M; Institute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.; IBE, LMU Munich, Munich, Germany.; Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center, Johannes Gutenberg University, Mainz, Germany.; Department of Internal Medicine I (Cardiology), Hospital of the Ludwig-Maximilians-University (LMU) Munich, Munich, Germany., Veldink JH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van den Berg LH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Van Damme P; Neurology Department University Hospital Leuven, Neuroscience Department KU Leuven, Center for Brain & Disease Research VIB, Leuven, Belgium., Cusi D; Scientific Unit, Bio4Dreams - Business Nursery for Life Sciences, Milan, Italy., Lanzani C; Nephrology, Genomics of Renal Diseases and Hypertension Unit, Università Vita Salute San Raffaele, Milan, Italy., Rigade S; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Charpentier E; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Université de Nantes, CHU Nantes, Inserm, CNRS, SFR Santé, Inserm UMS 016, CNRS UMS 3556, Nantes, France., Baron E; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Bonnaud S; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Université de Nantes, CHU Nantes, Inserm, CNRS, SFR Santé, Inserm UMS 016, CNRS UMS 3556, Nantes, France., Lecointe S; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Donnart A; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Université de Nantes, CHU Nantes, Inserm, CNRS, SFR Santé, Inserm UMS 016, CNRS UMS 3556, Nantes, France., Le Marec H; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Chatel S; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Karakachoff M; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Bézieau S; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., London B; Department of Internal Medicine, Division of Cardiovascular Medicine, Abboud Cardiovascular Research Center, University of Iowa Carver College of Medicine, Iowa City, IA, USA., Tfelt-Hansen J; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; The Department of Cardiology, The Heart Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Forensic Medicine, University of Copenhagen, Copenhagen, Denmark., Roden D; Medicine, Clinical Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.; Medicine, Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.; Medicine, Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA., Odening KE; Department of Cardiology and Angiology I, Heart Center, University Freiburg, Freiburg, Germany.; Department of Cardiology, Translational Cardiology, University Hospital Bern, Bern, Switzerland., Cerrone M; Medicine, Leon H. Charney Division of Cardiology, Heart Rhythm Center and Cardiovascular Genetics Program, New York University School of Medicine, New York, NY, USA., Chinitz LA; Medicine, Leon H. Charney Division of Cardiology, Heart Rhythm Center and Cardiovascular Genetics Program, New York University School of Medicine, New York, NY, USA., Volders PG; Department of Cardiology, CARIM, Maastricht University Medical Center, Maastricht, The Netherlands., van de Berg MP; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Laurent G; Cardiology Department, ImVia lab team IFTIM, University Hospital Dijon, Dijon, France., Faivre L; Centre de Génétique, FHU TRANSLAD, Dijon, France., Antzelevitch C; Lankenau Institute for Medical Research, Wynnewood, PA, USA., Kääb S; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Department of Medicine I, University Hospital, LMU Munich, Munich, Germany.; German Center for Cardiovascular Research (DZHK), Partnersite Munich, Munich, Germany., Arnaout AA; Department of Cardiology, CH La Rochelle, La Rochelle, France., Dupuis JM; Service de cardiologie, CHU Angers, Angers, France., Pasquie JL; Department of Cardiology, CNRS UMR9214 - Inserm U1046 - PHYMEDEXP, Université de Montpellier et CHU Montpellier, Montpellier, France., Billon O; Department of Cardiovascular Medicine, Vendée Hospital, Service de Cardiologie, La Roche sur Yon, France., Roberts JD; Medicine, Cardiology, Western University, London, Ontario, Canada., Jesel L; Department of Cardiology, University Hospital of Strasbourg, Strasbourg, France.; INSERM 1260 - Regenerative Nanomedecine, University of Strasbourg, Strasbourg, France., Borggrefe M; Department 1st of Medicine, Cardiology, University Medical Center Mannheim, Mannheim, Germany.; German Center for Cardiovascular Research (DZHK), Mannheim, Germany., Lambiase PD; Cardiology, Medicine, Barts Heart Centre, London, UK.; Institute of Cardiovasculr Science, UCL, Population Health, UCL, London, UK., Mansourati J; Department of Cardiology, University Hospital of Brest, Brest, France., Loeys B; Center for Medical Genetics, Cardiogenetics, University of Antwerp/Antwerp University Hospital, Edegem, Belgium., Leenhardt A; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Department of Cardiology, Hopital Bichat, Paris, France., Guicheney P; Sorbonne Université, Paris, France.; UMR_S1166, Faculté de médecine, Sorbonne Université, INSERM, Paris, France., Maury P; Service de cardiologie, Hôpital Rangueil, CHU de Toulouse, Toulouse, France., Schulze-Bahr E; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; University Hospital Münster, Institute for Genetics of Heart Diseases (IfGH), Münster, Germany., Robyns T; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium.; Cardiovascular Sciences, University of Leuven, Leuven, Belgium., Breckpot J; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Department of Human Genetics, Catholic University Leuven, Leuven, Belgium., Babuty D; Department of Cardiology, CHU Tours, Tours, France., Priori SG; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Molecular Cardiology, ICS Maugeri, IRCCS and Department of Molecular Medicine, University of Pavia, Pavia, Italy., Napolitano C; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Molecular Cardiology, ICS Maugeri, IRCCS and Department of Molecular Medicine, University of Pavia, Pavia, Italy., de Asmundis C; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Heart Rhythm Management Center, Postgraduate Program in Cardiac Electrophysiology and Pacing Universitair Ziekenhuis, Brussel-Vrije Universiteit Brussel, ERN Heart Guard Center, Brussels, Belgium.; IDIBAPS, Institut d'Investigació August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Brugada P; Heart Rhythm Management Center, UZ Brussel-VUB, Brussels, Belgium., Brugada R; Hospital Trueta, CiberCV, University of Girona, IDIBGI, Girona, Spain, Barcelona, Spain., Arbelo E; Arrhythmia Section, Cardiology Department, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain., Brugada J; Cardiovascular Institute, Hospital Clinic, University of Barcelona, Barcelona, Spain., Mabo P; Cardiologie et Maladies vasculaires, Université Rennes1 - CHU Rennes, Rennes, France., Behar N; Cardiologie et Maladies vasculaires, Université Rennes1 - CHU Rennes, Rennes, France., Giustetto C; Medical Sciences, Cardiology, University of Torino, Torino, Italy., Molina MS; Cardiogenetic, Unidad de Cardiopatías Familiares, Instituto Murciano de Investigación Biosanitaria, Universidad de Murcia, Murcia, Spain., Gimeno JR; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Cardiology, Unidad de Cardiopatías Familiares, Hospital Universitario Virgen de la Arrixaca, Universidad de Murcia, Murcia, Spain., Hasdemir C; Department of Cardiology, Ege University School of Medicine, Bornova, Turkey., Schwartz PJ; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Center for Cardiac Arrhythmias of Genetic Origin, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Laboratory of Cardiovascular Genetics, Istituto Auxologico Italiano IRCCS, Cusano Milanino, Italy., Crotti L; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Center for Cardiac Arrhythmias of Genetic Origin, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Laboratory of Cardiovascular Genetics, Istituto Auxologico Italiano IRCCS, Cusano Milanino, Italy.; Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Department of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy., McKeown PP; Cardiology, Belfast Health and Social Care Trust and Queen's University Belfast, Belfast, UK., Sharma S; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.; Cardiology Clinical Academic Group, St. George's University Hospitals' NHS Foundation Trust, London, UK., Behr ER; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.; Cardiology Clinical Academic Group, St. George's University Hospitals' NHS Foundation Trust, London, UK., Haissaguerre M; IHU Liryc, Electrophysiology and Heart Modeling Institute, fondation Bordeaux Université, Pessac-Bordeaux, France.; Université Bordeaux, Centre de recherche Cardio-Thoracique de Bordeaux, Bordeaux, France.; INSERM, Centre de recherche Cardio-Thoracique de Bordeaux, Bordeaux, France.; Electrophysiology and Ablation Unit, Bordeaux University Hospital (CHU), Pessac, France., Sacher F; IHU Liryc, Electrophysiology and Heart Modeling Institute, fondation Bordeaux Université, Pessac-Bordeaux, France.; Université Bordeaux, Centre de recherche Cardio-Thoracique de Bordeaux, Bordeaux, France.; INSERM, Centre de recherche Cardio-Thoracique de Bordeaux, Bordeaux, France.; Electrophysiology and Ablation Unit, Bordeaux University Hospital (CHU), Pessac, France., Rooryck C; CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Université de Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), INSERM U1211, Bordeaux, France., Tan HL; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Netherlands Heart Institute, Utrecht, The Netherlands., Remme CA; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Postema PG; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Delmar M; Medicine, Cardiology, New York University School of Medicine, New York, NY, USA., Ellinor PT; Cardiac Arrhythmia Service and Cardiovascular Research Center, Massachusetts General Hospital and Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Boston, MA, USA., Lubitz SA; Cardiac Arrhythmia Service and Cardiovascular Research Center, Massachusetts General Hospital and Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Boston, MA, USA., Gourraud JB; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart., Tanck MW; Clinical Epidemiology, Biostatistics and Bioinformatics, Clinical Methods and Public Health, Amsterdam Public Health, Amsterdam, The Netherlands., George AL Jr; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., MacRae CA; Medicine, Cardiovascular Medicine, Genetics and Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Burridge PW; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Dina C; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Probst V; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart., Wilde AA; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Schott JJ; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart., Redon R; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart., Bezzina CR; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart, . c.r.bezzina@amsterdamumc.nl.; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. c.r.bezzina@amsterdamumc.nl.
Publikováno v:
Nature genetics [Nat Genet] 2022 May; Vol. 54 (5), pp. 735.
Autor:
Barc J; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. julien.barc@univ-nantes.fr.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart, . julien.barc@univ-nantes.fr., Tadros R; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Medicine, Cardiovascular Genetics Center, Montreal Heart Institute and Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada., Glinge C; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; The Department of Cardiology, The Heart Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Chiang DY; Medicine, Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA, USA., Jouni M; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Simonet F; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Jurgens SJ; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Baudic M; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Nicastro M; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Potet F; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Offerhaus JA; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Walsh R; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Choi SH; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Verkerk AO; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Medical Biology, University of Amsterdam, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Mizusawa Y; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Anys S; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Minois D; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Arnaud M; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Duchateau J; IHU Liryc, Electrophysiology and Heart Modeling Institute, fondation Bordeaux Université, Pessac-Bordeaux, France.; Université Bordeaux, Centre de recherche Cardio-Thoracique de Bordeaux, Bordeaux, France.; INSERM, Centre de recherche Cardio-Thoracique de Bordeaux, Bordeaux, France.; Electrophysiology and Ablation Unit, Bordeaux University Hospital (CHU), Pessac, France., Wijeyeratne YD; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.; Cardiology Clinical Academic Group, St. George's University Hospitals' NHS Foundation Trust, London, UK., Muir A; Cardiology, Belfast Health and Social Care Trust and Queen's University Belfast, Belfast, UK., Papadakis M; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.; Cardiology Clinical Academic Group, St. George's University Hospitals' NHS Foundation Trust, London, UK., Castelletti S; Center for Cardiac Arrhythmias of Genetic Origin, Istituto Auxologico Italiano IRCCS, Milan, Italy., Torchio M; Laboratory of Cardiovascular Genetics, Istituto Auxologico Italiano IRCCS, Cusano Milanino, Italy., Ortuño CG; Cardiogenetic, Unidad de Cardiopatías Familiares, Instituto Murciano de Investigación Biosanitaria, Universidad de Murcia, Murcia, Spain., Lacunza J; Cardiology, Unidad de Cardiopatías Familiares, Hospital Universitario Virgen de la Arrixaca, Universidad de Murcia, Murcia, Spain., Giachino DF; Clinical and Biological Sciences, Medical Genetics, University of Torino, Orbassano, Italy.; Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano, Italy., Cerrato N; Medical Sciences, Cardiology, University of Torino, Torino, Italy., Martins RP; Cardiologie et Maladies vasculaires, Université Rennes1 - CHU Rennes, Rennes, France., Campuzano O; Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.; Medical Science Department, University of Girona, Girona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Biochemistry and Molecular Genetics Department, Hospital Clinic, University of Barcelona-IDIBAPS, Barcelona, Spain., Van Dooren S; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Centre for Medical Genetics, research group Reproduction and Genetics, research cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium., Thollet A; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Kyndt F; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Mazzanti A; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Molecular Cardiology, ICS Maugeri, IRCCS and Department of Molecular Medicine, University of Pavia, Pavia, Italy., Clémenty N; Department of Cardiology, CHU Tours, Tours, France., Bisson A; Department of Cardiology, CHU Tours, Tours, France., Corveleyn A; Department of Human Genetics, Catholic University Leuven, Leuven, Belgium., Stallmeyer B; University Hospital Münster, Institute for Genetics of Heart Diseases (IfGH), Münster, Germany., Dittmann S; University Hospital Münster, Institute for Genetics of Heart Diseases (IfGH), Münster, Germany., Saenen J; Cardiology, Electrophysiology - Cardiogenetics, University of Antwerp/Antwerp University Hospital, Edegem, Belgium., Noël A; Department of Cardiology, University Hospital of Brest, Brest, France., Honarbakhsh S; Cardiology, Medicine, Barts Heart Centre, London, UK., Rudic B; Department 1st of Medicine, Cardiology, University Medical Center Mannheim, Mannheim, Germany.; German Center for Cardiovascular Research (DZHK), Mannheim, Germany., Marzak H; Department of Cardiology, University Hospital of Strasbourg, Strasbourg, France., Rowe MK; Medicine, Cardiology, Western University, London, Ontario, Canada., Federspiel C; Department of Cardiovascular Medicine, Vendée Hospital, Service de Cardiologie, La Roche sur Yon, France., Le Page S; Service de cardiologie, CHU Angers, Angers, France., Placide L; Department of Cardiology, CHU Montpellier, Montpellier, France., Milhem A; Department of Cardiology, CH La Rochelle, La Rochelle, France., Barajas-Martinez H; Lankenau Institute for Medical Research, Wynnewood, PA, USA., Beckmann BM; Department of Medicine I, University Hospital, LMU Munich, Munich, Germany.; University Hospital of the Johann Wolfgang Goethe University Frankfurt, Institute of Legal Medicine, Frankfurt, Germany., Krapels IP; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Steinfurt J; Department of Cardiology and Angiology I, Heart Center, University Freiburg, Freiburg, Germany., Winkel BG; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; The Department of Cardiology, The Heart Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Jabbari R; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; The Department of Cardiology, The Heart Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Shoemaker MB; Medicine, Cardiology, Vanderbilt University Medical Center, Nashville, TN, USA., Boukens BJ; Department of Medical Biology, University of Amsterdam, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Škorić-Milosavljević D; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Bikker H; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Genome Diagnostics Laboratory, Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Manevy F; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Lichtner P; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Ribasés M; Psychiatric Genetics Unit, Institute Vall d'Hebron Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain., Meitinger T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Müller-Nurasyid M; Institute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.; IBE, LMU Munich, Munich, Germany.; Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center, Johannes Gutenberg University, Mainz, Germany.; Department of Internal Medicine I (Cardiology), Hospital of the Ludwig-Maximilians-University (LMU) Munich, Munich, Germany., Veldink JH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van den Berg LH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Van Damme P; Neurology Department University Hospital Leuven, Neuroscience Department KU Leuven, Center for Brain & Disease Research VIB, Leuven, Belgium., Cusi D; Scientific Unit, Bio4Dreams - Business Nursery for Life Sciences, Milan, Italy., Lanzani C; Nephrology, Genomics of Renal Diseases and Hypertension Unit, Università Vita Salute San Raffaele, Milan, Italy., Rigade S; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Charpentier E; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Université de Nantes, CHU Nantes, Inserm, CNRS, SFR Santé, Inserm UMS 016, CNRS UMS 3556, Nantes, France., Baron E; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Bonnaud S; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Université de Nantes, CHU Nantes, Inserm, CNRS, SFR Santé, Inserm UMS 016, CNRS UMS 3556, Nantes, France., Lecointe S; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Donnart A; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Université de Nantes, CHU Nantes, Inserm, CNRS, SFR Santé, Inserm UMS 016, CNRS UMS 3556, Nantes, France., Le Marec H; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Chatel S; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Karakachoff M; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Bézieau S; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., London B; Department of Internal Medicine, Division of Cardiovascular Medicine, Abboud Cardiovascular Research Center, University of Iowa Carver College of Medicine, Iowa City, IA, USA., Tfelt-Hansen J; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; The Department of Cardiology, The Heart Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Forensic Medicine, University of Copenhagen, Copenhagen, Denmark., Roden D; Medicine, Clinical Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.; Medicine, Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.; Medicine, Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA., Odening KE; Department of Cardiology and Angiology I, Heart Center, University Freiburg, Freiburg, Germany.; Department of Cardiology, Translational Cardiology, University Hospital Bern, Bern, Switzerland., Cerrone M; Medicine, Leon H. Charney Division of Cardiology, Heart Rhythm Center and Cardiovascular Genetics Program, New York University School of Medicine, New York, NY, USA., Chinitz LA; Medicine, Leon H. Charney Division of Cardiology, Heart Rhythm Center and Cardiovascular Genetics Program, New York University School of Medicine, New York, NY, USA., Volders PG; Department of Cardiology, CARIM, Maastricht University Medical Center, Maastricht, The Netherlands., van de Berg MP; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Laurent G; Cardiology Department, ImVia lab team IFTIM, University Hospital Dijon, Dijon, France., Faivre L; Centre de Génétique, FHU TRANSLAD, Dijon, France., Antzelevitch C; Lankenau Institute for Medical Research, Wynnewood, PA, USA., Kääb S; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Department of Medicine I, University Hospital, LMU Munich, Munich, Germany.; German Center for Cardiovascular Research (DZHK), Partnersite Munich, Munich, Germany., Arnaout AA; Department of Cardiology, CH La Rochelle, La Rochelle, France., Dupuis JM; Service de cardiologie, CHU Angers, Angers, France., Pasquie JL; Department of Cardiology, CNRS UMR9214 - Inserm U1046 - PHYMEDEXP, Université de Montpellier et CHU Montpellier, Montpellier, France., Billon O; Department of Cardiovascular Medicine, Vendée Hospital, Service de Cardiologie, La Roche sur Yon, France., Roberts JD; Medicine, Cardiology, Western University, London, Ontario, Canada., Jesel L; Department of Cardiology, University Hospital of Strasbourg, Strasbourg, France.; INSERM 1260 - Regenerative Nanomedecine, University of Strasbourg, Strasbourg, France., Borggrefe M; Department 1st of Medicine, Cardiology, University Medical Center Mannheim, Mannheim, Germany.; German Center for Cardiovascular Research (DZHK), Mannheim, Germany., Lambiase PD; Cardiology, Medicine, Barts Heart Centre, London, UK.; Institute of Cardiovasculr Science, UCL, Population Health, UCL, London, UK., Mansourati J; Department of Cardiology, University Hospital of Brest, Brest, France., Loeys B; Center for Medical Genetics, Cardiogenetics, University of Antwerp/Antwerp University Hospital, Edegem, Belgium., Leenhardt A; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Department of Cardiology, Hopital Bichat, Paris, France., Guicheney P; Sorbonne Université, Paris, France.; UMR_S1166, Faculté de médecine, Sorbonne Université, INSERM, Paris, France., Maury P; Service de cardiologie, Hôpital Rangueil, CHU de Toulouse, Toulouse, France., Schulze-Bahr E; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; University Hospital Münster, Institute for Genetics of Heart Diseases (IfGH), Münster, Germany., Robyns T; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium.; Cardiovascular Sciences, University of Leuven, Leuven, Belgium., Breckpot J; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Department of Human Genetics, Catholic University Leuven, Leuven, Belgium., Babuty D; Department of Cardiology, CHU Tours, Tours, France., Priori SG; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Molecular Cardiology, ICS Maugeri, IRCCS and Department of Molecular Medicine, University of Pavia, Pavia, Italy., Napolitano C; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Molecular Cardiology, ICS Maugeri, IRCCS and Department of Molecular Medicine, University of Pavia, Pavia, Italy., de Asmundis C; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Heart Rhythm Management Center, Postgraduate Program in Cardiac Electrophysiology and Pacing Universitair Ziekenhuis, Brussel-Vrije Universiteit Brussel, ERN Heart Guard Center, Brussels, Belgium.; IDIBAPS, Institut d'Investigació August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Brugada P; Heart Rhythm Management Center, UZ Brussel-VUB, Brussels, Belgium., Brugada R; Hospital Trueta, CiberCV, University of Girona, IDIBGI, Girona, Spain, Barcelona, Spain., Arbelo E; Arrhythmia Section, Cardiology Department, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain., Brugada J; Cardiovascular Institute, Hospital Clinic, University of Barcelona, Barcelona, Spain., Mabo P; Cardiologie et Maladies vasculaires, Université Rennes1 - CHU Rennes, Rennes, France., Behar N; Cardiologie et Maladies vasculaires, Université Rennes1 - CHU Rennes, Rennes, France., Giustetto C; Medical Sciences, Cardiology, University of Torino, Torino, Italy., Molina MS; Cardiogenetic, Unidad de Cardiopatías Familiares, Instituto Murciano de Investigación Biosanitaria, Universidad de Murcia, Murcia, Spain., Gimeno JR; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Cardiology, Unidad de Cardiopatías Familiares, Hospital Universitario Virgen de la Arrixaca, Universidad de Murcia, Murcia, Spain., Hasdemir C; Department of Cardiology, Ege University School of Medicine, Bornova, Turkey., Schwartz PJ; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Center for Cardiac Arrhythmias of Genetic Origin, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Laboratory of Cardiovascular Genetics, Istituto Auxologico Italiano IRCCS, Cusano Milanino, Italy., Crotti L; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Center for Cardiac Arrhythmias of Genetic Origin, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Laboratory of Cardiovascular Genetics, Istituto Auxologico Italiano IRCCS, Cusano Milanino, Italy.; Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, Istituto Auxologico Italiano IRCCS, Milan, Italy.; Department of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy., McKeown PP; Cardiology, Belfast Health and Social Care Trust and Queen's University Belfast, Belfast, UK., Sharma S; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.; Cardiology Clinical Academic Group, St. George's University Hospitals' NHS Foundation Trust, London, UK., Behr ER; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.; Cardiology Clinical Academic Group, St. George's University Hospitals' NHS Foundation Trust, London, UK., Haissaguerre M; IHU Liryc, Electrophysiology and Heart Modeling Institute, fondation Bordeaux Université, Pessac-Bordeaux, France.; Université Bordeaux, Centre de recherche Cardio-Thoracique de Bordeaux, Bordeaux, France.; INSERM, Centre de recherche Cardio-Thoracique de Bordeaux, Bordeaux, France.; Electrophysiology and Ablation Unit, Bordeaux University Hospital (CHU), Pessac, France., Sacher F; IHU Liryc, Electrophysiology and Heart Modeling Institute, fondation Bordeaux Université, Pessac-Bordeaux, France.; Université Bordeaux, Centre de recherche Cardio-Thoracique de Bordeaux, Bordeaux, France.; INSERM, Centre de recherche Cardio-Thoracique de Bordeaux, Bordeaux, France.; Electrophysiology and Ablation Unit, Bordeaux University Hospital (CHU), Pessac, France., Rooryck C; CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Université de Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), INSERM U1211, Bordeaux, France., Tan HL; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Netherlands Heart Institute, Utrecht, The Netherlands., Remme CA; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Postema PG; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Delmar M; Medicine, Cardiology, New York University School of Medicine, New York, NY, USA., Ellinor PT; Cardiac Arrhythmia Service and Cardiovascular Research Center, Massachusetts General Hospital and Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Boston, MA, USA., Lubitz SA; Cardiac Arrhythmia Service and Cardiovascular Research Center, Massachusetts General Hospital and Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Boston, MA, USA., Gourraud JB; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart., Tanck MW; Clinical Epidemiology, Biostatistics and Bioinformatics, Clinical Methods and Public Health, Amsterdam Public Health, Amsterdam, The Netherlands., George AL Jr; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., MacRae CA; Medicine, Cardiovascular Medicine, Genetics and Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Burridge PW; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Dina C; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Probst V; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart., Wilde AA; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Schott JJ; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart., Redon R; Université de Nantes, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart., Bezzina CR; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart, . c.r.bezzina@amsterdamumc.nl.; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. c.r.bezzina@amsterdamumc.nl.
Publikováno v:
Nature genetics [Nat Genet] 2022 Mar; Vol. 54 (3), pp. 232-239. Date of Electronic Publication: 2022 Feb 24.
Autor:
Giustetto C; Division of Cardiology, University of Torino, Department of Medical Sciences, 'Città della Salute e della Scienza' Hospital, Torino, Italy. Electronic address: carla.giustetto@unito.it., Nangeroni G; Division of Cardiology, University of Torino, Department of Medical Sciences, 'Città della Salute e della Scienza' Hospital, Torino, Italy., Cerrato N; Division of Cardiology, University of Torino, Department of Medical Sciences, 'Città della Salute e della Scienza' Hospital, Torino, Italy., Rudic B; 1st Department of Medicine-Cardiology, University Medical Center Mannheim, Mannheim, Germany; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Mannheim, Germany., Tülümen E; 1st Department of Medicine-Cardiology, University Medical Center Mannheim, Mannheim, Germany; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Mannheim, Germany., Gribaudo E; Division of Cardiology, University of Torino, Department of Medical Sciences, 'Città della Salute e della Scienza' Hospital, Torino, Italy., Giachino DF; Medical Genetics, University of Torino, Department of Clinical and Biological Sciences, San Luigi Gonzaga Hospital, Orbassano, Italy., Barbonaglia L; Division of Cardiology, Sant'Andrea Hospital, Vercelli, Italy., Biava LM; Division of Cardiology, University of Torino, Department of Medical Sciences, 'Città della Salute e della Scienza' Hospital, Torino, Italy., Carvalho P; Division of Cardiology, University of Torino, San Luigi Gonzaga Hospital, Orbassano, Italy., Bergamasco L; Division of Cardiology, University of Torino, Department of Medical Sciences, 'Città della Salute e della Scienza' Hospital, Torino, Italy., Borggrefe M; 1st Department of Medicine-Cardiology, University Medical Center Mannheim, Mannheim, Germany; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Mannheim, Germany., Gaita F; Division of Cardiology, University of Torino, Department of Medical Sciences, 'Città della Salute e della Scienza' Hospital, Torino, Italy.
Publikováno v:
International journal of cardiology [Int J Cardiol] 2020 Mar 01; Vol. 302, pp. 171-177. Date of Electronic Publication: 2019 Nov 18.
Autor:
Tagliafico E; Center for Genome Research, University of Modena and Reggio Emilia, Modena, Italy.; Department of Medical and Surgical Sciences, University of Modena ad Reggio Emilia, Modena, Italy., Bernardis I; Center for Genome Research, University of Modena and Reggio Emilia, Modena, Italy.; Department of Medical and Surgical Sciences, University of Modena ad Reggio Emilia, Modena, Italy., Grasso M; Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy., D'Apice MR; Medical Genetics Laboratory, Tor Vergata Hospital, Rome, Italy., Lapucci C; Medical Genetics and Molecular Biology Unit, Synlab Italy, Brescia, Italy., Botta A; Dept. Biomedicine and Prevention, Medical Genetics Section, Tor Vergata University of Rome, Rome, Italy., Giachino DF; Medical Genetics, University of Torino, Dept. Clinical &Biological Sciences, Torino, Italy.; Medical Genetics, San Luigi University Hospital, Orbassano, Italy., Marinelli M; Genetics Laboratory Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Primignani P; Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy., Russo S; Cytogenetics and Molecular Genetics Laboratory, Istituto Auxologico Italiano, I.R.C.C.S., Milan, Italy., Sani I; Genetica Medica-AOU 'A. Meyer' di Firenze, Florence, Italy., Seia M; Medical Genetics Laboratory; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Fini S; Unit of Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy., Rimessi P; Unit of Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy., Tenedini E; Center for Genome Research, University of Modena and Reggio Emilia, Modena, Italy.; Department of Medical and Surgical Sciences, University of Modena ad Reggio Emilia, Modena, Italy., Ravani A; Unit of Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy., Genuardi M; Istituto di Medicina Genomica, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy., Ferlini A; Unit of Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Publikováno v:
PloS one [PLoS One] 2018 Nov 27; Vol. 13 (11), pp. e0206855. Date of Electronic Publication: 2018 Nov 27 (Print Publication: 2018).
Autor:
Tabaro I; Department of Clinical and Biological Sciences, Internal Medicine, San Luigi Gonzaga Hospital, Orbassano, University of Turin, Torino, Italy., Reimondo G; Department of Clinical and Biological Sciences, Internal Medicine, San Luigi Gonzaga Hospital, Orbassano, University of Turin, Torino, Italy. giuseppe.reimondo@unito.it., Osella G; Department of Clinical and Biological Sciences, Internal Medicine, San Luigi Gonzaga Hospital, Orbassano, University of Turin, Torino, Italy., Aurizi C; Porphyria Centre San Gallicano Institute IRCCS IFO, Rome, Italy., Caraci P; Department of Clinical and Biological Sciences, Internal Medicine, San Luigi Gonzaga Hospital, Orbassano, University of Turin, Torino, Italy., Barbieri L; Porphyria Centre San Gallicano Institute IRCCS IFO, Rome, Italy., Giachino DF; Department of Clinical and Biological Sciences, Medical Genetics Unit, San Luigi Gonzaga Hospital, Orbassano, University of Turin, Torino, Italy., Sirchia F; Department of Medical Sciences, Medical Genetics Unit, AOU Città della Scienza e della Salute, Turin, University of Turin, Torino, Italy., Terzolo M; Department of Clinical and Biological Sciences, Internal Medicine, San Luigi Gonzaga Hospital, Orbassano, University of Turin, Torino, Italy.
Publikováno v:
Endocrine [Endocrine] 2018 Sep; Vol. 61 (3), pp. 403-406. Date of Electronic Publication: 2018 Mar 07.
Autor:
Di Gregorio E; University of Torino, Department of Medical Sciences, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Riberi E; Department of Public Health and Pediatrics, University of Torino, Turin, Italy., Belligni EF; Department of Public Health and Pediatrics, University of Torino, Turin, Italy., Biamino E; Department of Public Health and Pediatrics, University of Torino, Turin, Italy., Spielmann M; Research Group Mundlos, Max Planck Institute for Molecular Genetics, Berlin, Germany., Ala U; Computational Biology Unit, Molecular Biotechnology Center (MBC), Turin, Italy.; Department of Molecular Biotechnology and Health Sciences, University of Torino, Turin, Italy., Calcia A; University of Torino, Department of Medical Sciences, Turin, Italy., Bagnasco I; Neuropsichiatria Infantile, Martini Hospital, ASL TO1, Turin, Italy., Carli D; University of Torino, Department of Medical Sciences, Turin, Italy., Gai G; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Giordano M; Department of Health Sciences, Laboratory of Genetics, University of Eastern Piedmont and Interdisciplinary Research Center of Autoimmune Diseases, Novara, Italy., Guala A; SOC Pediatria, Castelli Hospital, Verbania, Italy., Keller R; Mental Health Department, ASL TO2, Adult Autism Center, Turin, Italy., Mandrile G; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.; Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano (TO), Italy., Arduino C; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Maffè A; Molecular Biology and Genetics Unit, Santa Croce e Carle Hospital, Cuneo, Italy., Naretto VG; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Sirchia F; Molecular Biology and Genetics Unit, Santa Croce e Carle Hospital, Cuneo, Italy., Sorasio L; Pediatrics, Santa Croce e Carle Hospital, Cuneo, Italy., Ungari S; Molecular Biology and Genetics Unit, Santa Croce e Carle Hospital, Cuneo, Italy., Zonta A; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Zacchetti G; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.; Department of Health Sciences, Laboratory of Genetics, University of Eastern Piedmont and Interdisciplinary Research Center of Autoimmune Diseases, Novara, Italy., Talarico F; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Pappi P; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Cavalieri S; University of Torino, Department of Medical Sciences, Turin, Italy., Giorgio E; University of Torino, Department of Medical Sciences, Turin, Italy., Mancini C; University of Torino, Department of Medical Sciences, Turin, Italy., Ferrero M; University of Torino, Department of Medical Sciences, Turin, Italy., Brussino A; University of Torino, Department of Medical Sciences, Turin, Italy., Savin E; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Gandione M; Department of Neuropsychiatry, University of Torino, Turin, Italy., Pelle A; Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano (TO), Italy.; Department of Clinical and Biological Sciences, University of Torino, Turin, Italy., Giachino DF; Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano (TO), Italy.; Department of Clinical and Biological Sciences, University of Torino, Turin, Italy., De Marchi M; Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano (TO), Italy.; Department of Clinical and Biological Sciences, University of Torino, Turin, Italy., Restagno G; Laboratory of Molecular Genetics, Città della Salute e della Scienza University Hospital, Turin, Italy., Provero P; Computational Biology Unit, Molecular Biotechnology Center (MBC), Turin, Italy.; Department of Molecular Biotechnology and Health Sciences, University of Torino, Turin, Italy., Cirillo Silengo M; Department of Public Health and Pediatrics, University of Torino, Turin, Italy., Grosso E; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Pasini B; Molecular Biology and Genetics Unit, Santa Croce e Carle Hospital, Cuneo, Italy., De Rubeis S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York., Brusco A; University of Torino, Department of Medical Sciences, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Ferrero GB; Department of Public Health and Pediatrics, University of Torino, Turin, Italy.
Publikováno v:
Clinical genetics [Clin Genet] 2017 Oct; Vol. 92 (4), pp. 415-422. Date of Electronic Publication: 2017 Jul 25.