المؤلفون: Lipov, Alex, Jurgens, Sean, Mazzarotto, Francesco, Allouba, Mona, Aguib, Yasmine, Gennarelli, Massimo, Yacoub, Magdi, Ellinor, Patrick, Bezzina, Connie, Walsh, Roddy, Pirruccello, James

المصدر: Nature Cardiovascular Research. 2(11)

مصطلحات موضوعية: Cardiovascular genetics, Genetics research, Medical genetics, Medical genomics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/560743g5
https://escholarship.org/content/qt560743g5/qt560743g5.pdf

المؤلفون: Jordan, Elizabeth, Peterson, Laiken, Ai, Tomohiko, Asatryan, Babken, Bronicki, Lucas, Brown, Emily, Celeghin, Rudy, Edwards, Matthew, Fan, Judy, Ingles, Jodie, James, Cynthia A, Jarinova, Olga, Johnson, Renee, Judge, Daniel P, Lahrouchi, Najim, Deprez, Ronald H Lekanne, Lumbers, R Thomas, Mazzarotto, Francesco, Domingo, Argelia Medeiros, Miller, Rebecca L, Morales, Ana, Murray, Brittney, Peters, Stacey, Pilichou, Kalliopi, Protonotarios, Alexandros, Semsarian, Christopher, Shah, Palak, Syrris, Petros, Thaxton, Courtney, van Tintelen, J Peter, Walsh, Roddy, Wang, Jessica, Ware, James, Hershberger, Ray E

المصدر: Circulation. 144(1)

مصطلحات موضوعية: Cardiovascular, Genetics, Heart Disease, Rare Diseases, Biotechnology, Cardiomyopathy, Dilated, Evidence-Based Medicine, Expert Testimony, Genetic Predisposition to Disease, Genetic Testing, Humans, cardiomyopathy, genetics, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Public Health and Health Services, Cardiovascular System & Hematology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4dj848nt
https://escholarship.org/content/qt4dj848nt/qt4dj848nt.pdf

المؤلفون: Jurgens, Sean J, Ramo, Joel T, Kramarenko, Daria R, Wijdeveld, Leonoor F J M, Haas, Jan, Chaffin, Mark D, Garnier, Sophie, Gaziano, Liam, Weng, Lu-Chen, Lipov, Alex, Zheng, Sean L, Henry, Albert, Huffman, Jennifer E, Challa, Saketh, Ruhle, Frank, Verdugo, Carmen Diaz, Krijger Juarez, Christian, Kany, Shinwan, van Orsouw, Constance A, Biddinger, Kiran, Poel, Edwin, Elliott, Amanda L, Wang, Xin, Francis, Catherine, Ruan, Richard, Koyama, Satoshi, Beekman, Leander, Zimmerman, Dominic S, Deleuze, Jean-Francois, Villard, Eric, Tregouet, David-Alexandre, Isnard, Richard, Boomsma, Dorret I, de Geus, Eco J C, Tadros, Rafik, Pinto, Yigal M, Wilde, Arthur a M, Hottenga, Jouke-Jan, Sinisalo, Juha, Niiranen, Teemu, Walsh, Roddy, Schmidt, Amand F, Choi, Seung Hoan, Chang, Kyong-Mi, Tsao, Philip S, Matthews, Paul M, Ware, James S, Lumbers, R Thomas, van der Crabben, Saskia, Laukkanen, Jari, Palotie, Aarno, Amin, Ahmad S, Charron, Philippe, Meder, Benjamin, Ellinor, Patrick T, Daly, Mark, Aragam, Krishna G, Bezzina, Connie R

المساهمون: Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Laboratoire d'excellence en GENomique MEDicale (GENMED), Fondation Jean Dausset - Centre d’Etudes du Polymorphisme Humain Paris (CEPH), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), National Institutes of Health, ANR-10-LABX-0013,GENMED,Medical Genomics(2010)

المصدر: ISSN: 1061-4036.

مصطلحات موضوعية: [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie

Relation: info:eu-repo/semantics/altIdentifier/pmid/39572784; PUBMED: 39572784; PUBMEDCENTRAL: PMC11631763

الاتاحة: https://hal.science/hal-04836522
https://hal.science/hal-04836522v1/document
https://hal.science/hal-04836522v1/file/BPH_NG_2024_Jurgens.pdf
https://doi.org/10.1038/s41588-024-01975-5

المؤلفون: Jurgens, Sean J., Rämö, Joel T., Kramarenko, Daria R., Wijdeveld, Leonoor F. J. M., Haas, Jan, Chaffin, Mark D., Garnier, Sophie, Gaziano, Liam, Weng, Lu-Chen, Lipov, Alex, Zheng, Sean L., Henry, Albert, Huffman, Jennifer E., Challa, Saketh, Ruehle, Frank, Verdugo, Carmen Diaz, Krijger Juarez, Christian, Kany, Shinwan, van Orsouw, Constance A., Biddinger, Kiran, Poel, Edwin, Elliott, Amanda L., Wang, Xin, Francis, Catherine, Ruan, Richard, Koyama, Satoshi, Beekman, Leander, Zimmerman, Dominic S., Deleuze, Jean-Francois, Villard, Eric, Tregouet, David-Alexandre, Isnard, Richard, Boomsma, Dorret I., de Geus, Eco J. C., Tadros, Rafik, Pinto, Yigal M., Wilde, Arthur A. M., Hottenga, Jouke-Jan, Sinisalo, Juha, Niiranen, Teemu, Walsh, Roddy, Schmidt, Amand F., Choi, Seung Hoan, Chang, Kyong-Mi, Tsao, Philip S., Matthews, Paul M., Ware, James S., Lumbers, R. Thomas, van der Crabben, Saskia, Laukkanen, Jari, Palotie, Aarno, Amin, Ahmad S., Charron, Philippe, Meder, Benjamin, Ellinor, Patrick T., Daly, Mark, Aragam, Krishna G., Bezzina, Connie R.

المساهمون: Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Complex Disease Genetics, Helsinki Institute of Life Science HiLIFE, University of Helsinki, HUS Heart and Lung Center, Department of Medicine, Clinicum, Kardiologian yksikkö, Centre of Excellence in Complex Disease Genetics, Research Programs Unit, Aarno Palotie / Principal Investigator

مصطلحات موضوعية: Analyses identify, Genetic-loci, Risk, Metaanalysis, Enrichment, Biomedicine, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: We gratefully thank all research participants, as this work would not have been possible without their contributions. Relevant funding sources for the FinnGen, UKB and All of Us datasets are presented in the Supplementary Note. S.J.J. received research support through the Junior Clinical Scientist Fellowship from the Dutch Heart Foundation (03-007-2022-0035), as well as a doctoral fellowship from the Amsterdam UMC. J.T.R. was supported by a research grant from the Aarne Koskelo Foundation. S.K. was supported by the Walter Benjamin Fellowship from the Deutsche Forschungsgemeinschaft (521832260). L.F.J.M.W. was supported by the Amsterdam UMC YTF, Dutch Heart Foundation Student Grant and the AFIP foundation. P.T.E. was supported by funding from the National Institutes of Health (1RO1HL092577, 1R01HL157635, 5R01HL139731), by a grant from the American Heart Association (18SFRN34110082) and from the European Union (MAESTRIA 965286). This work was further supported by a grant from the National Institutes of Health (1K08HL153937) and a grant from the American Heart Association (862032) to K.G.A. C.R.B. was supported by funding from the Dutch Heart Foundation (CVON 2018-30 PREDICT2) and the Pathfinder Cardiogenomics programme of the European Innovation Council of the European Union (DCM-NEXT). A.A.M., D.R.K. and Y.M.P. were supported by funding from the PSIDER programme of the Netherlands Organisation for Health Research and Development (ZonMW; project 40-46800-98-018). T.N. was supported by grants from the Sigrid Juselius Foundation, the Finnish Foundation for Cardiovascular Research and the Finnish Research Council (grants 321351 and 354447). This work was supported by a grant from the GENMED Laboratory of Excellence on Medical Genomics (ANR-10-LABX-0013)-a research program managed by the National Research Agency (ANR) as part of the French Investment for the Future; Aviesan-ITMO Genetique-Genomique-Bioinformatique (ResDiCard: Resolving diagnostic deadlock in cardiomyopathies) and the Societe Francaise de Cardiologie/Federation Francaise de Cardiologie; the SFB-TR19 registry was supported by the Deutsche Forschungsgemeinschaft (DFG). The Study of Health in Pomerania (SHIP) is part of the Community Medicine Research net of the University of Greifswald, Germany, funded by the Federal Ministry of Education and Research (grants 01ZZ9603, 01ZZ0103, and 01ZZ0403); the Ministry of Cultural Affairs and the Social Ministry of the Federal State of Mecklenburg-West Pomerania; and grants from the German Center for Cardiovascular Research (DZHK). The KORA study was initiated and financed by the Helmholtz Zentrum Munchen-German Research Center for Environmental Health, funded by the German Federal Ministry of Education and Research (BMBF) and by the State of Bavaria. KORA research was supported at the Munich Center of Health Sciences (MC-Health), Ludwig-Maximilians-Universitat, as part of LMUinnovativ. D.A.T. is supported by the 'EPIDEMIOM-VTE' Senior Chair from the Initiative of Excellence of the University of Bordeaux. This research is based on data from the Million Veteran Program, Office of Research and Development, Veterans Health Administration, and was supported by award I01-BX003362 to P.T. and K.-M.C. This publication does not represent the views of the Department of Veteran Affairs or the United States Government. This work was also supported by the Sir Jules Thorn Charitable Trust (21JTA), Medical Research Council (UK), British Heart Foundation (RE/18/4/34215, SP/17/11/32885), the NIHR Imperial College Biomedical Research Centre, Pathfinder Cardiogenomics programme of the European Innovation Council of the European Union (DCM-NEXT) (101115416) to J.S.W.; http://hdl.handle.net/10138/588659; 001360254300001

الاتاحة: http://hdl.handle.net/10138/588659

المؤلفون: Jurgens, Sean J., Rämö, Joel T., Kramarenko, Daria R., Wijdeveld, Leonoor F. J. M., Haas, Jan, Chaffin, Mark D., Garnier, Sophie, Gaziano, Liam, Weng, Lu-Chen, Lipov, Alex, Zheng, Sean L., Henry, Albert, Huffman, Jennifer E., Challa, Saketh, Rühle, Frank, Verdugo, Carmen Diaz, Krijger Juárez, Christian, Kany, Shinwan, van Orsouw, Constance A., Biddinger, Kiran, Poel, Edwin, Elliott, Amanda L., Wang, Xin, Francis, Catherine, Ruan, Richard, Koyama, Satoshi, Beekman, Leander, Zimmerman, Dominic S., Deleuze, Jean-François, Villard, Eric, Trégouët, David-Alexandre, Isnard, Richard, Boomsma, Dorret I., de Geus, Eco J. C., Tadros, Rafik, Pinto, Yigal M., Wilde, Arthur A. M., Hottenga, Jouke-Jan, Sinisalo, Juha, Niiranen, Teemu, Walsh, Roddy, Schmidt, Amand F., Choi, Seung Hoan, Chang, Kyong-Mi, Tsao, Philip S., Matthews, Paul M., Ware, James S., Lumbers, R. Thomas, van der Crabben, Saskia, Laukkanen, Jari

المصدر: Nature Genetics ; ISSN 1061-4036 1546-1718

الاتاحة: https://doi.org/10.1038/s41588-024-02047-4
https://www.nature.com/articles/s41588-024-02047-4.pdf
https://www.nature.com/articles/s41588-024-02047-4

المؤلفون: BARC, Julien, TADROS, Rafik, GLINGE, Charlotte, CHIANG, David Y, JOUNI, Mariam, SIMONET, Floriane, JURGENS, Sean J, BAUDIC, Manon, NICASTRO, Michele, POTET, Franck, OFFERHAUS, Joost A, WALSH, Roddy, CHOI, Seung Hoan, VERKERK, Arie O, MIZUSAWA, Yuka, ANYS, Soraya, MINOIS, Damien, ARNAUD, Marine, DUCHATEAU, Josselin, WIJEYERATNE, Yanushi D, MUIR, Alison, PAPADAKIS, Michael, CASTELLETTI, Silvia, TORCHIO, Margherita, ORTUÑO, Cristina Gil, LACUNZA, Javier, GIACHINO, Daniela F, CERRATO, Natascia, MARTINS, Raphaël P, CAMPUZANO, Oscar, VAN DOOREN, Sonia, THOLLET, Aurélie, KYNDT, Florence, MAZZANTI, Andrea, CLÉMENTY, Nicolas, BISSON, Arnaud, CORVELEYN, Anniek, STALLMEYER, Birgit, DITTMANN, Sven, SAENEN, Johan, NOËL, Antoine, HONARBAKHSH, Shohreh, RUDIC, Boris, MARZAK, Halim, ROWE, Matthew K, FEDERSPIEL, Claire, LE PAGE, Sophie, PLACIDE, Leslie, MILHEM, Antoine, BARAJAS-MARTINEZ, Hector, BECKMANN, Britt-Maria, KRAPELS, Ingrid P, STEINFURT, Johannes, WINKEL, Bo Gregers, JABBARI, Reza, SHOEMAKER, Moore B, BOUKENS, Bas J, ŠKORIĆ-MILOSAVLJEVIĆ, Doris, BIKKER, Hennie, MANEVY, Federico, LICHTNER, Peter, RIBASÉS, Marta, MEITINGER, Thomas, MÜLLER-NURASYID, Martina, VELDINK, Jan H, VAN DEN BERG, Leonard H, VAN DAMME, Philip, CUSI, Daniele, LANZANI, Chiara, RIGADE, Sidwell, CHARPENTIER, Eric, BARON, Estelle, BONNAUD, Stéphanie, LECOINTE, Simon, DONNART, Audrey, LE MAREC, Hervé, CHATEL, Stéphanie, KARAKACHOFF, Matilde, BÉZIEAU, Stéphane, LONDON, Barry, TFELT-HANSEN, Jacob, RODEN, Dan, ODENING, Katja E, CERRONE, Marina, CHINITZ, Larry A, VOLDERS, Paul G, VAN DE BERG, Maarten P, LAURENT, Gabriel, FAIVRE, Laurence, ANTZELEVITCH, Charles, KÄÄB, Stefan, ARNAOUT, Alain Al, DUPUIS, Jean-Marc, PASQUIE, Jean-Luc, BILLON, Olivier, ROBERTS, Jason D, JESEL, Laurence, BORGGREFE, Martin, LAMBIASE, Pier D, MANSOURATI, Jacques, LOEYS, Bart, LEENHARDT, Antoine, GUICHENEY, Pascale, MAURY, Philippe, SCHULZE-BAHR, Eric, ROBYNS, Tomas, BRECKPOT, Jeroen, BABUTY, Dominique, PRIORI, Silvia G, NAPOLITANO, Carlo, DE ASMUNDIS, Carlo, BRUGADA, Pedro, BRUGADA, Ramon, ARBELO, Elena, BRUGADA, Josep, MABO, Philippe, BEHAR, Nathalie, GIUSTETTO, Carla, MOLINA, Maria Sabater, GIMENO, Juan R, HASDEMIR, Can, SCHWARTZ, Peter J, CROTTI, Lia, MCKEOWN, Pascal P, SHARMA, Sanjay, BEHR, Elijah R, HAISSAGUERRE, Michel, SACHER, Frédéric, ROORYCK, Caroline, TAN, Hanno L, REMME, Carol A, POSTEMA, Pieter G, DELMAR, Mario, ELLINOR, Patrick T, LUBITZ, Steven A, GOURRAUD, Jean-Baptiste, TANCK, Michael W, GEORGE, Alfred L, MACRAE, Calum A, BURRIDGE, Paul W, DINA, Christian, PROBST, Vincent, WILDE, Arthur A, SCHOTT, Jean-Jacques, REDON, Richard, BEZZINA, Connie R

مصطلحات موضوعية: Alleles, Brugada Syndrome, Disease Susceptibility, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Microtubule-Associated Proteins, Mutation, NAV1.5 Voltage-Gated Sodium Channel, Young Adult, Sciences du Vivant [q-bio]/Médecine humaine et pathologie

Relation: https://oskar-bordeaux.fr/handle/20.500.12278/186976

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/186976
https://hdl.handle.net/20.500.12278/186976
https://doi.org/10.1038/s41588-021-01007-6

المؤلفون: Waddell, Amber, Hespe, Sophie, Asatryan, Babken, Owens, Emma, Thaxton, Courtney, Adduru, Mhy-Lanie, Anderson, Kailyn, Brown, Emily, Hoffman-Andrews, Lily, Jordan, Elizabeth, Mayers, Megan, Peters, Stacey, Stafford, Fergus, Bagnall, Richard, Bronicki, Lucas, Callewaert, Bert, Chahal, C. Anwar, James, Cynthia, Jarinova, Olga, Landstrom, Andrew, McNally, Elizabeth, Murray, Brittney, Muiño-Mosquera, Laura, Parikh, Victoria, Reuter, Chloe, Walsh, Roddy, Wayburn, Bess, Ware, James, Ingles, Jodie

المصدر: Genetics in Medicine Open ; volume 2, page 101047 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101047
https://api.elsevier.com/content/article/PII:S2949774424001936?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424001936?httpAccept=text/plain

المؤلفون: Pua, Chee Jian, Tham, Nevin, Chin, Calvin WL, Walsh, Roddy, Khor, Chiea Chuen, Toepfer, Christopher N, Repetti, Giuliana G, Garfinkel, Amanda C, Ewoldt, Jourdan F, Cloonan, Paige, Chen, Christopher S, Lim, Shi Qi, Cai, Jiashen, Loo, Li Yang, Kong, Siew Ching, Chiang, Charleston WK, Whiffin, Nicola, de Marvao, Antonio, Lio, Pei Min, Hii, An An, Yang, Cheng Xi, Le, Thu Thao, Bylstra, Yasmin, Lim, Weng Khong, Teo, Jing Xian, Padilha, Kallyandra, Silva, Gabriela V, Pan, Bangfen, Govind, Risha, Buchan, Rachel J, Barton, Paul JR, Tan, Patrick, Foo, Roger, Yip, James WL, Wong, Raymond CC, Chan, Wan Xian, Pereira, Alexandre C, Tang, Hak Chiaw, Jamuar, Saumya Shekhar, Ware, James S, Seidman, Jonathan G, Seidman, Christine E, Cook, Stuart A

المصدر: Circulation Genomic and Precision Medicine. 13(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Genetics, Cardiovascular, Clinical Research, Heart Disease, 2.1 Biological and endogenous factors, Aetiology, Asian People, Cardiomyopathy, Hypertrophic, China, Female, Gene Frequency, Genetic Association Studies, Haplotypes, Heart Ventricles, Heterozygote, Humans, Male, Middle Aged, Odds Ratio, Polymorphism, Single Nucleotide, Risk, Singapore, Troponin I, Troponin T, cardiomyopathies, hypertrophy, population, troponin I, troponin T, Medical Biotechnology, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/78x4h35w
https://escholarship.org/content/qt78x4h35w/qt78x4h35w.pdf

المؤلفون: Walsh, Roddy, Mauleekoonphairoj, John, Mengarelli, Isabella, Bosada, Fernanda M, Verkerk, Arie O, van Duijvenboden, Karel, Poovorawan, Yong, Wongcharoen, Wanwarang, Sutjaporn, Boosamas, Wandee, Pharawee, Chimparlee, Nitinan, Chokesuwattanaskul, Ronpichai, Vongpaisarnsin, Kornkiat, Dangkao, Piyawan, Wu, Cheng-I, Tadros, Rafik, Amin, Ahmad S, Lieve, Krystien V V, Postema, Pieter G, Kooyman, Maarten, Beekman, Leander, Sahasatas, Dujdao, Amnueypol, Montawatt, Krittayaphong, Rungroj, Prechawat, Somchai, Anannab, Alisara, Makarawate, Pattarapong, Ngarmukos, Tachapong, Phusanti, Keerapa, Veerakul, Gumpanart, Kingsbury, Zoya, Newington, Taksina, Maheswari, Uma, Ross, Mark T, Grace, Andrew, Lambiase, Pier D, Behr, Elijah R, Schott, Jean-Jacques, Redon, Richard, Barc, Julien, Christoffels, Vincent M, Wilde, Arthur A M, Nademanee, Koonlawee, Bezzina, Connie R, Khongphatthanayothin, Apichai

المصدر: Circulation ; ISSN:1524-4539 ; Volume:151 ; Issue:1

مصطلحات موضوعية: Asia, Southeastern, Brugada syndrome, genetics, noncoding genetic variant

Relation: https://doi.org/10.1161/CIRCULATIONAHA.124.069041; https://pubmed.ncbi.nlm.nih.gov/39391988; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11670919/

الاتاحة: https://doi.org/10.1161/CIRCULATIONAHA.124.069041
https://pubmed.ncbi.nlm.nih.gov/39391988
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11670919/

المؤلفون: Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter G., Amin, Ahmad S., Nannenberg, Eline A., Ware, James S., Whiffin, Nicola, Mazzarotto, Francesco, Skoric-Milosavljevic, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt M., Bezieau, Stephane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuno, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jorgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P. C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphael P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frederic, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M. Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G. A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kaeaeb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Ackerman, Michael J., Brugada, Ramon, Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Behr, Elijah R., Barc, Julien, Bezzina, Connie R.

المصدر: Genetics in Medicine. 23(1):47-58

مصطلحات موضوعية: variant interpretation, LQTS, Brugada, ACMG/AMP guidelines

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-175470
https://doi.org/10.1038/s41436-020-00946-5
https://umu.diva-portal.org/smash/get/diva2:1472613/FULLTEXT02.pdf

المؤلفون: Walsh, Roddy

Thesis Advisors: Cook, Stuart ; Barton, Paul

مصطلحات موضوعية: 610

الاتاحة: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.745299

المؤلفون: Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, Mizusawa, Yuka, Postema, Pieter G., Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L., Mazzanti, Andrea, Beckmann, Britt M., Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D., Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A., Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M. Ben, Weeke, Peter E., Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J., Bos, J. Martijn, Sarquella-Brugada, Georgia, Campuzano, Oscar, Platonov, Pyotr G., Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Andersen, Peter M., 1962, Mueller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribases, Marta, Aung, Tin, Khor, Chiea C., Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J. Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D., Antzelevitch, Charles, Roden, Dan M., Saenen, Johan, Borggrefe, Martin, Odening, Katja E., Ellinor, Patrick T., Tfelt-Hansen, Jacob, Skinner, Jonathan R., van den Berg, Maarten P., Olesen, Morten Salling, Brugada, Josep, Brugada, Ramon, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R., Rydberg, Annika, Aiba, Takeshi, Kaeaeb, Stefan, Priori, Silvia G., Guicheney, Pascale, Tan, Hanno L., Newton-Cheh, Christopher, Ackerman, Michael J., Schwartz, Peter J., Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A., Tanck, Michael W. T., Bezzina, Connie R.

المصدر: Circulation. 142(4):324-338

مصطلحات موضوعية: genome-wide association study, inheritance patterns, long QT syndrome

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-174908
https://doi.org/10.1161/CIRCULATIONAHA.120.045956
https://umu.diva-portal.org/smash/get/diva2:1466263/FULLTEXT01.pdf

المؤلفون: Walsh, Roddy

المساهمون: Cook, Stuart, Barton, Paul

مصطلحات موضوعية: 610

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.745299

المؤلفون: Josephs, Katherine S, Roberts, Angharad M, Theotokis, Pantazis, Walsh, Roddy, Ostrowski, Philip J, Edwards, Matthew, Fleming, Andrew, Thaxton, Courtney, Roberts, Jason D, Care, Melanie, Zareba, Wojciech, Adler, Arnon, Sturm, Amy C, Tadros, Rafik, Novelli, Valeria, Owens, Emma, Bronicki, Lucas, Jarinova, Olga, Callewaert, Bert, Peters, Stacey, Lumbers, Tom, Jordan, Elizabeth, Asatryan, Babken, Krishnan, Neesha, Hershberger, Ray E, Chahal, C Anwar A, Landstrom, Andrew P, James, Cynthia, McNally, Elizabeth M, Judge, Daniel P, van Tintelen, Peter, Wilde, Arthur, Gollob, Michael, Ingles, Jodie, Ware, James S

المساهمون: UMC Utrecht, Genetica Groep Van Tintelen, Cancer, Child Health, Circulatory Health

مصطلحات موضوعية: Databases, Genetic, Genetic Testing, Genetic Variation, Genomics, Humans, Inheritance Patterns, Inherited cardiac conditions, Inheritance, Variant classification, Allelic requirement, Disease mechanism, Genomic variant filtering, Gene curation, Variant interpretation, Genetics(clinical), Genetics, Molecular Medicine, Molecular Biology, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/450344

الاتاحة: https://dspace.library.uu.nl/handle/1874/450344

المؤلفون: Josephs, Katherine S., Roberts, Angharad M., Theotokis, Pantazis, Walsh, Roddy, Ostrowski, Philip J., Edwards, Matthew, Fleming, Andrew, Thaxton, Courtney, Roberts, Jason D., Care, Melanie, Zareba, Wojciech, Adler, Arnon, Sturm, Amy C., Tadros, Rafik, Novelli, Valeria, Owens, Emma, Bronicki, Lucas, Jarinova, Olga, Callewaert, Bert, Peters, Stacey, Lumbers, Tom, Jordan, Elizabeth, Asatryan, Babken, Krishnan, Neesha, Hershberger, Ray E., Chahal, C. Anwar A., Landstrom, Andrew P., James, Cynthia, McNally, Elizabeth M., Judge, Daniel P., van Tintelen, Peter, Wilde, Arthur, Gollob, Michael, Ingles, Jodie, Ware, James S.

المساهمون: Sir Jules Thorn Charitable Trust, Wellcome Trust, British Heart Foundation, Medical Research Council, NIHR Imperial Biomedical Research Centre, National Human Genome Research Institute, Canada Research Chairs, American Heart Association, Hartstichting

المصدر: Genome Medicine ; volume 15, issue 1 ; ISSN 1756-994X

الاتاحة: http://dx.doi.org/10.1186/s13073-023-01246-8
https://link.springer.com/content/pdf/10.1186/s13073-023-01246-8.pdf
https://link.springer.com/article/10.1186/s13073-023-01246-8/fulltext.html

المؤلفون: Allouba, Mona, Walsh, Roddy, Afify, Alaa, Hosny, Mohammed, Halawa, Sarah, Galal, Aya, Fathy, Mariam, Theotokis, Pantazis I, Boraey, Ahmed, Ellithy, Amany, Buchan, Rachel, Govind, Risha, Whiffin, Nicola, Anwer, Shehab, ElGuindy, Ahmed, Ware, James S, Barton, Paul J R, Yacoub, Magdi, Aguib, Yasmine

المساهمون: Science and Technology Development Fund, Wellcome Trust, Medical Research Council, NIHR, Royston Cardiomyopathy Centre, Health Innovation Challenge, Department of Health

المصدر: European Heart Journal ; volume 44, issue 48, page 5146-5158 ; ISSN 0195-668X 1522-9645

الاتاحة: http://dx.doi.org/10.1093/eurheartj/ehad372
https://academic.oup.com/eurheartj/article-pdf/44/48/5146/54585289/ehad372.pdf

المؤلفون: Kramarenko, Daria, Walsh, Roddy

المصدر: European Heart Journal ; volume 44, issue 48, page 5074-5076 ; ISSN 0195-668X 1522-9645

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الاتاحة: http://dx.doi.org/10.1093/eurheartj/ehad735
https://academic.oup.com/eurheartj/article-pdf/44/48/5074/54585227/ehad735.pdf

المؤلفون: Walsh, Roddy, Adler, Arnon, Amin, Ahmad S., Abiusi, Emanuela, Care, Melanie, Bikker, Hennie, Amenta, Simona, Feilotter, Harriet, Nannenberg, Eline A., Mazzarotto, Francesco, Trevisan, Valentina, Garcia, John, Hershberger, Ray E., Perez, Marco V., Sturm, Amy C., Ware, James S., Zareba, Wojciech, Novelli, Valeria, Wilde, Arthur A. M., Gollob, Michael H.

المصدر: Walsh , R , Adler , A , Amin , A S , Abiusi , E , Care , M , Bikker , H , Amenta , S , Feilotter , H , Nannenberg , E A , Mazzarotto , F , Trevisan , V , Garcia , J , Hershberger , R E , Perez , M V , Sturm , A C , Ware , J S , Zareba , W , Novelli , V , Wilde , A A M & Gollob , M H 2022 , ' Evaluation of gene validity for CPVT and short ....

الاتاحة: https://research.vumc.nl/en/publications/a6cd0d76-6646-44b6-a92a-dd86ed4d857d
https://doi.org/10.1093/eurheartj/ehab687
http://www.scopus.com/inward/record.url?scp=85128489200&partnerID=8YFLogxK

المؤلفون: de Boer, Rudolf A., Heymans, Stephane, Backs, Johannes, Carrier, Lucie, Coats, Andrew J. S., Dimmeler, Stefanie, Eschenhagen, Thomas, Filippatos, Gerasimos, Gepstein, Lior, Hulot, Jean-Sebastien, Knöll, Ralph, Kupatt, Christian, Linke, Wolfgang A., Seidman, Christine E., Tocchetti, C. Gabriele, van der Velden, Jolanda, Walsh, Roddy, Seferovic, Petar M., Thum, Thomas

المصدر: de Boer , R A , Heymans , S , Backs , J , Carrier , L , Coats , A J S , Dimmeler , S , Eschenhagen , T , Filippatos , G , Gepstein , L , Hulot , J-S , Knöll , R , Kupatt , C , Linke , W A , Seidman , C E , Tocchetti , C G , van der Velden , J , Walsh , R , Seferovic , P M & Thum , T 2022 , ' Targeted therapies in genetic dilated and hypertrophic cardiomyopathies : from molecular ....

الاتاحة: https://research.vumc.nl/en/publications/d182ab75-68f9-430b-8fb6-6fe81269205c
https://doi.org/10.1002/ejhf.2414
http://www.scopus.com/inward/record.url?scp=85122892844&partnerID=8YFLogxK

المؤلفون: Barc, Julien, Tadros, Rafik, Glinge, Charlotte, Chiang, David, Jouni, Mariam, Simonet, Floriane, Jurgens, Sean, Baudic, Manon, Nicastro, Michele, Potet, Franck, Offerhaus, Joost, Walsh, Roddy, Choi, Seung Hoan, Verkerk, Arie, Mizusawa, Yuka, Anys, Soraya, Minois, Damien, Arnaud, Marine, Duchateau, Josselin, Wijeyeratne, Yanushi, Muir, Alison, Papadakis, Michael, Castelletti, Silvia, Torchio, Margherita, Ortuño, Cristina Gil, Lacunza, Javier, Giachino, Daniela, Cerrato, Natascia, Martins, Raphaël, Campuzano, Oscar, van Dooren, Sonia, Thollet, Aurélie, Kyndt, Florence, Mazzanti, Andrea, Clémenty, Nicolas, Bisson, Arnaud, Corveleyn, Anniek, Stallmeyer, Birgit, Dittmann, Sven, Saenen, Johan, Noël, Antoine, Honarbakhsh, Shohreh, Rudic, Boris, Marzak, Halim, Rowe, Matthew, Federspiel, Claire, Le Page, Sophie, Placide, Leslie, Milhem, Antoine, Barajas-Martinez, Hector, Beckmann, Britt-Maria, Krapels, Ingrid, Steinfurt, Johannes, Winkel, Bo Gregers, Jabbari, Reza, Shoemaker, Moore, Boukens, Bas, Škorić-Milosavljević, Doris, Bikker, Hennie, Manevy, Federico, Lichtner, Peter, Ribasés, Marta, Meitinger, Thomas, Müller-Nurasyid, Martina, Strauch, Konstantin, Peters, Annette, Schulz, Holger, Schwettmann, Lars, Leidl, Reiner, Heier, Margit, Veldink, Jan, van den Berg, Leonard, van Damme, Philip, Cusi, Daniele, Lanzani, Chiara, Rigade, Sidwell, Charpentier, Eric, Baron, Estelle, Bonnaud, Stéphanie, Lecointe, Simon, Donnart, Audrey, Le Marec, Hervé, Chatel, Stéphanie, Karakachoff, Matilde, Bézieau, Stéphane, London, Barry, Tfelt-Hansen, Jacob, Roden, Dan, Odening, Katja, Cerrone, Marina, Chinitz, Larry, Volders, Paul, van de Berg, Maarten, Laurent, Gabriel, Faivre, Laurence, Antzelevitch, Charles, Kääb, Stefan, Arnaout, Alain Al, Dupuis, Jean-Marc, Pasquié, Jean Luc, Billon, Olivier, Roberts, Jason, Jesel, Laurence, Borggrefe, Martin, Lambiase, Pier, Mansourati, Jacques, Loeys, Bart, Leenhardt, Antoine, Guicheney, Pascale, Maury, Philippe, Schulze-Bahr, Eric, Robyns, Tomas, Breckpot, Jeroen, Babuty, Dominique, Priori, Silvia, Napolitano, Carlo, Defaye, Pascal, Anselme, Frédéric, Darmon, Jean Philippe, Wiart, François, de Asmundis, Carlo, Brugada, Pedro, Brugada, Ramon, Arbelo, Elena, Brugada, Josep, Mabo, Philippe, Behar, Nathalie, Giustetto, Carla, Molina, Maria Sabater, Gimeno, Juan, Hasdemir, Can, Schwartz, Peter, Crotti, Lia, Mckeown, Pascal, Sharma, Sanjay, Behr, Elijah, Haissaguerre, Michel, Sacher, Frédéric, Rooryck, Caroline, Tan, Hanno, Remme, Carol, Postema, Pieter, Delmar, Mario, Ellinor, Patrick, Lubitz, Steven, Gourraud, Jean-Baptiste, Tanck, Michael, George, Alfred, Macrae, Calum, Burridge, Paul, Dina, Christian, Probst, Vincent, Wilde, Arthur, Schott, Jean-Jacques, Redon, Richard, Bezzina, Connie

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)

المصدر: ISSN: 1061-4036.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-03656107
https://hal.science/hal-03656107v1/document
https://hal.science/hal-03656107v1/file/2022%20Author%20Correction%20Genome%20wide%20association.pdf
https://doi.org/10.1038/s41588-022-01079-y