المؤلفون: Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Gil Ortuño C, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Gregers Winkel B, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy FC, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M, Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Al Arnaout A, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loeys B, Leenhardt A, Guicheney P, Maury P, Schulze-Bahr E, Robyns T, Breckpot J, Babuty D, Priori SG, Napolitano C, de Asmundis C, Brugada P, Brugada R, Arbelo E, Brugada J, Mabo P, Behar N, Giustetto C, Molina M, Gimeno JR, Hasdemir C, Schwartz PJ, Crotti L, McKeown PP, Sharma S, Behr ER, Haissaguerre M, Sacher F, Rooryck C, Tan HL, Remme CA, Postema PG, Delmar M, Ellinor PT, Lubitz SA, Gourraud JB, Tanck MW, George Jr. AL, MacRae CA, Burridge PW, Dina C, Probst V, Wilde AA, Schott JJ, Redon R, Bezzina CR.

المصدر: Nature Genetics 54(3) 232-239

العلاقة: info:eu-repo/grantAgreement/EC/H2020/733381/; https://zenodo.org/communities/escape-netTest; https://zenodo.org/record/7488743Test; https://doi.org/10.1038/s41588-021-01007-6Test; oai:zenodo.org:7488743

الإتاحة: https://doi.org/10.1038/s41588-021-01007-6Test
https://zenodo.org/record/7488743Test

المؤلفون: Barc, J, Tadros, R, Glinge, C, Chiang, DY, Jouni, M, Simonet, F, Jurgens, SJ, Baudic, M, Nicastro, M, Potet, F, Offerhaus, JA, Walsh, R, Choi, SH, Verkerk, AO, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, YD, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Ortuño, CG, Lacunza, J, Giachino, DF, Cerrato, N, Martins, RP, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, MK, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, BM, Krapels, IP, Steinfurt, J, Winkel, BG, Jabbari, R, Shoemaker, MB, Boukens, BJ, Škorić-Milosavljević, D, Bikker, H, Manevy, FC, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Veldink, JH, van den Berg, LH, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, KE, Cerrone, M, Chinitz, LA, Volders, PG, van de Berg, MP, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Arnaout, AA, Dupuis, JM, Pasquie, JL, Billon, O, Roberts, JD, Jesel, L, Borggrefe, M, Lambiase, PD, Mansourati, J

المصدر: Nature Genetics , 54 (3) pp. 232-239. (2022)

مصطلحات موضوعية: Genome-wide association studies, Ventricular fibrillation

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10149408/1/Barc%20et%20al.%20BrS%20GWAS%20Manuscript.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10149408Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10149408/1/Barc%20et%20al.%20BrS%20GWAS%20Manuscript.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10149408Test/

المؤلفون: Barc, J., Tadros, R., Glinge, C., Chiang, D.Y., Jouni, M., Simonet, F., Jurgens, S.J., Baudic, M., Nicastro, M., Potet, F., Offerhaus, J.A., Walsh, R., Choi, S.H., Verkerk, A.O., Mizusawa, Y., Anys, S., Minois, D., Arnaud, M., Duchateau, J., Wijeyeratne, Y.D., Muir, A.M., Papadakis, M., Castelletti, S., Torchio, M., Ortuño, C.G., Lacunza, J., Giachino, D.F., Cerrato, N., Martins, R.P., Campuzano, Ó., Van Dooren, S., Thollet, A., Kyndt, F., Mazzanti, A., Clémenty, N., Bisson, A., Corveleyn, A., Stallmeyer, B., Dittmann, S., Saenen, J., Noël, A., Honarbakhsh, S., Rudic, B., Marzak, H., Rowe, M.K., Federspiel, C., Le Page, S., Placide, L., Milhem, A., Barajas-Martínez, H., Beckmann, B.M., Krapels, I.P., Steinfurt, J., Winkel, B.G., Jabbari, R., Shoemaker, M.B., Boukens, B.J., Skoric-Milosavljevic, D., Bikker, H., Manevy, F.C., Lichtner, P., Ribasés, M., Meitinger, T., Müller-Nurasyid, M., Veldink, J.H., van den Berg, L.H., van Damme, P., Cusi, D., Lanzani, C., Rigade, S., Charpentier, E., Baron, E., Bonnaud, S., Lecointe, S., Donnart, A., Le Marec, H., Chatel, S., Karakachoff, M., Bézieau, S., London, B., Tfelt-Hansen, J., Roden, D., Odening, K.E., Cerrone, M., Chinitz, L.A., Volders, P.G., van de Berg, M.P., Laurent, G., Faivre, L., Antzelevitch, C., Kääb, S., Arnaout, A.A., Dupuis, J.M., Pasquie, J.L., Billon, O., Roberts, J.D., Jesel, L., Borggrefe, M., Lambiase, P.D., Mansourati, J., Loeys, B., Leenhardt, A., Guicheney, P., Maury, P., Schulze-Bahr, E., Robyns, T., Breckpot, J., Babuty, D., Priori, S.G., Napolitano, C., de Asmundis, C., Brugada, P., Brugada, R., Brugada, J., Mabo, P., Behar, N., Giustetto, C., Molina, M.S., Gimeno, J.R., Hasdemir, C., Schwartz, P.J., McKeown, P.P., Sharma, S., Behr, E.R., Haissaguerre, M., Sacher, F., Rooryck, C., Tan, H.L., Remme, C.A., Postema, P.G., Delmar, M., Ellinor, P.T., Lubitz, S.A., Gourraud, J.B., Tanck, M.W., George, A.L., MacRae, C.A., Burridge, P.W., Dina, C., Probst, V., Wilde, A.A., Schott, J.J., Redon, R., Bezzina, C.R., KORA Study Group (Strauch, K., Peters, A., Schulz, H., Schwettmann, L., Leidl, R., Heier, M.)

المصدر: Nat. Genet. 54, 232-239 (2022)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35210625; info:eu-repo/semantics/altIdentifier/wos/WOS:000768975400007; info:eu-repo/semantics/altIdentifier/isbn/1061-4036; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64546Test; urn:isbn:1061-4036; urn:issn:1061-4036; urn:issn:1546-1718

الإتاحة: https://doi.org/10.1038/s41588-021-01007-6Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64546Test

المؤلفون: Daire, E., Dirani, S., Klug, D., Dhaenens, C.M., Kyndt, F., Fressart, V., Jedraszak, G.

المصدر: Archives of Cardiovascular Diseases Supplements ; volume 14, issue 3-4, page 244 ; ISSN 1878-6480

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الإتاحة: https://doi.org/10.1016/j.acvdsp.2022.07.050Test
https://api.elsevier.com/content/article/PII:S1878648022002257?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1878648022002257?httpAccept=text/plainTest

المؤلفون: Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P. G., Amin A. S., Nannenberg E. A., Ware J. S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B. M., Bezieau S., Bos J. M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P. T., Ortuno C. G., Giustetto C., Gourraud J. -B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J. K., Kimoto H., Kotta M. -C., Krapels I. P. C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B. L., Lundin C., Makiyama T., Mansourati J., Martins R. P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M. S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M. N., Shimamoto K., Shoemaker M. B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D. J., Usuda K., van der Zwaag P. A., Van Dooren S., Van Laer L., Winbo A., Winkel B. G., Yamagata K., Zumhagen S., Volders P. G. A., Lubitz S. A., Antzelevitch C., Platonov P. G., Odening K. E., Roden D. M., Roberts J. D., Skinner J. R., Tfelt-Hansen J., van den Berg M. P., Olesen M. S., Lambiase P. D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J. B., Kaab S., Brugada P., Robyns T., Giachino D. F., Ackerman M. J., Brugada R., Brugada J., Gimeno J. R., Hasdemir C., Guicheney P., Priori S. G., Schulze-Bahr E., Makita N., Schwartz P. J., Shimizu W., Aiba T., Schott J. -J., Redon R., Ohno S., Probst V., Arnaout A. A., Amelot M., Anselme F., Billon O., Defaye P., Dupuis J. -M., Jesel L., Laurent G., Maury P., Pasquie J. -L., Wiart F., Behr E. R., Barc J., Bezzina C. R.

المساهمون: Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P.G., Amin A.S., Nannenberg E.A., Ware J.S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B.M., Bezieau S., Bos J.M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P.T., Ortuno C.G., Giustetto C., Gourraud J.-B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J.K., Kimoto H., Kotta M.-C., Krapels I.P.C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B.L., Lundin C., Makiyama T., Mansourati J., Martins R.P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M.S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M.N., Shimamoto K., Shoemaker M.B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D.J., Usuda K., van der Zwaag P.A., Van Dooren S., Van Laer L., Winbo A., Winkel B.G., Yamagata K., Zumhagen S., Volders P.G.A., Lubitz S.A., Antzelevitch C., Platonov P.G., Odening K.E., Roden D.M., Roberts J.D., Skinner J.R., Tfelt-Hansen J., van den Berg M.P., Olesen M.S., Lambiase P.D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J.B., Kaab S., Brugada P., Robyns T., Giachino D.F.

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

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32893267; info:eu-repo/semantics/altIdentifier/wos/WOS:000566661000001; volume:23; issue:1; firstpage:47; lastpage:58; numberofpages:12; journal:GENETICS IN MEDICINE; http://hdl.handle.net/2318/1766442Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090223596; https://www.nature.com/articles/s41436-020-00946-5Test

الإتاحة: https://doi.org/10.1038/s41436-020-00946-5Test
http://hdl.handle.net/2318/1766442Test
https://www.nature.com/articles/s41436-020-00946-5Test

المؤلفون: Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P. G., Amin A. S., Nannenberg E. A., Ware J. S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B. M., Bezieau S., Bos J. M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P. T., Ortuno C. G., Giustetto C., Gourraud J. -B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J. K., Kimoto H., Kotta M. -C., Krapels I. P. C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B. L., Lundin C., Makiyama T., Mansourati J., Martins R. P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M. S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M. N., Shimamoto K., Shoemaker M. B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D. J., Usuda K., van der Zwaag P. A., Van Dooren S., Van Laer L., Winbo A., Winkel B. G., Yamagata K., Zumhagen S., Volders P. G. A., Lubitz S. A., Antzelevitch C., Platonov P. G., Odening K. E., Roden D. M., Roberts J. D., Skinner J. R., Tfelt-Hansen J., van den Berg M. P., Olesen M. S., Lambiase P. D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J. B., Kaab S., Brugada P., Robyns T., Giachino D. F., Ackerman M. J., Brugada R., Brugada J., Gimeno J. R., Hasdemir C., Guicheney P., Priori S. G., Schulze-Bahr E., Makita N., Schwartz P. J., Shimizu W., Aiba T., Schott J. -J., Redon R., Ohno S., Probst V., Arnaout A. A., Amelot M., Anselme F., Billon O., Defaye P., Dupuis J. -M., Jesel L., Laurent G., Maury P., Pasquie J. -L., Wiart F., Behr E. R., Barc J., Bezzina C. R.

المساهمون: Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, P, Amin, A, Nannenberg, E, Ware, J, Whiffin, N, Mazzarotto, F, Skoric-Milosavljevic, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, B, Bezieau, S, Bos, J, Breckpot, J, Campuzano, O, Castelletti, S, Celen, C, Clauss, S, Corveleyn, A, Crotti, L, Dagradi, F, de Asmundis, C, Denjoy, I, Dittmann, S, Ellinor, P, Ortuno, C, Giustetto, C, Gourraud, J, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, J, Kimoto, H, Kotta, M, Krapels, I, Kurabayashi, M, Lazarte, J, Leenhardt, A, Loeys, B, Lundin, C, Makiyama, T, Mansourati, J, Martins, R, Mazzanti, A, Morner, S, Napolitano, C, Ohkubo, K, Papadakis, M, Rudic, B, Molina, M, Sacher, F, Sahin, H, Sarquella-Brugada, G, Sebastiano, R, Sharma, S, Sheppard, M, Shimamoto, K, Shoemaker, M, Stallmeyer, B, Steinfurt, J, Tanaka, Y, Tester, D, Usuda, K, van der Zwaag, P, Van Dooren, S, Van Laer, L, Winbo, A, Winkel, B, Yamagata, K, Zumhagen, S, Volders, P, Lubitz, S, Antzelevitch, C, Platonov, P, Odening, K, Roden, D, Roberts, J, Skinner, J, Tfelt-Hansen, J, van den Berg, M, Olesen, M, Lambiase, P, Borggrefe, M, Hayashi, K, Rydberg, A, Nakajima, T, Yoshinaga, M, Saenen, J, Kaab, S, Brugada, P, Robyns, T, Giachino, D

مصطلحات موضوعية: ACMG/AMP guideline, Brugada, LQTS, variant interpretation, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, BIO/18 - GENETICA

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32893267; info:eu-repo/semantics/altIdentifier/wos/WOS:000566661000001; volume:23; issue:1; firstpage:47; lastpage:58; numberofpages:12; journal:GENETICS IN MEDICINE; http://hdl.handle.net/10281/298050Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090223596

الإتاحة: https://doi.org/10.1038/s41436-020-00946-5Test
http://hdl.handle.net/10281/298050Test

المؤلفون: Wijeyeratne Y. D., Tanck M. W., Mizusawa Y., Batchvarov V., Barc J., Crotti L., Bos J. M., Tester D. J., Muir A., Veltmann C., Ohno S., Page S. P., Galvin J., Tadros R., Muggenthaler M., Raju H., Denjoy I., Schott J. -J., Gourraud J. -B., Skoric-Milosavljevic D., Nannenberg E. A., Redon R., Papadakis M., Kyndt F., Dagradi F., Castelletti S., Torchio M., Meitinger T., Lichtner P., Ishikawa T., Wilde A. A. M., Takahashi K., Sharma S., Roden D. M., Borggrefe M. M., McKeown P. P., Shimizu W., Horie M., Makita N., Aiba T., Ackerman M. J., Schwartz P. J., Probst V., Bezzina C. R., Behr E. R.

المساهمون: Wijeyeratne, Y, Tanck, M, Mizusawa, Y, Batchvarov, V, Barc, J, Crotti, L, Bos, J, Tester, D, Muir, A, Veltmann, C, Ohno, S, Page, S, Galvin, J, Tadros, R, Muggenthaler, M, Raju, H, Denjoy, I, Schott, J, Gourraud, J, Skoric-Milosavljevic, D, Nannenberg, E, Redon, R, Papadakis, M, Kyndt, F, Dagradi, F, Castelletti, S, Torchio, M, Meitinger, T, Lichtner, P, Ishikawa, T, Wilde, A, Takahashi, K, Sharma, S, Roden, D, Borggrefe, M, Mckeown, P, Shimizu, W, Horie, M, Makita, N, Aiba, T, Ackerman, M, Schwartz, P, Probst, V, Bezzina, C, Behr, E

مصطلحات موضوعية: Brugada syndrome, genetics, human, penetrance, phenotype, risk score, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, BIO/18 - GENETICA

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33164571; info:eu-repo/semantics/altIdentifier/wos/WOS:000598974000004; volume:13; issue:6; firstpage:599; lastpage:608; numberofpages:10; journal:CIRCULATION; http://hdl.handle.net/10281/298048Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097964476

الإتاحة: https://doi.org/10.1161/CIRCGEN.120.002911Test
http://hdl.handle.net/10281/298048Test

المؤلفون: Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, PG, Amin, AS, Nannenberg, EA, Ware, JS, Whiffin, N, Mazzarotto, F, Škorić-Milosavljević, 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, J-B, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, JK, Kimoto, H, Kotta, M-C, 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, J, Gimeno, JR, Hasdemir, C, Guicheney, P, Priori, SG, Schulze-Bahr, E, Makita, N, Schwartz, PJ, Shimizu, W, Aiba, T, Schott, J-J, Redon, R, Ohno, S, Probst, V, Nantes Referral Center for inherited cardiac arrhythmia, Behr, ER, Barc, J, Bezzina, CR

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/112371/1/Arrhythmia_variant_interpretation_manuscript_GiM_FINAL_Figs_Tables.docxTest; Walsh, R; Lahrouchi, N; Tadros, R; Kyndt, F; Glinge, C; Postema, PG; Amin, AS; Nannenberg, EA; Ware, JS; Whiffin, N; et al. Walsh, R; Lahrouchi, N; Tadros, R; Kyndt, F; Glinge, C; Postema, PG; Amin, AS; Nannenberg, EA; Ware, JS; Whiffin, N; Mazzarotto, F; Škorić-Milosavljević, 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, J-B; Hazeki, D; Horie, M; Ishikawa, T; Itoh, H; Kaneko, Y; Kanters, JK; Kimoto, H; Kotta, M-C; 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, J; Gimeno, JR; Hasdemir, C; Guicheney, P; Priori, SG; Schulze-Bahr, E; Makita, N; Schwartz, PJ; Shimizu, W; Aiba, T; Schott, J-J; Redon, R; Ohno, S; Probst, V; Nantes Referral Center for inherited cardiac arrhythmia; Behr, ER; Barc, J; Bezzina, CR (2021) Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genet Med, 23 (1). pp. 47-58. ISSN 1530-0366 https://doi.org/10.1038/s41436-020-00946-5Test SGUL Authors: Behr, Elijah Raphael Papadakis, Michael Sharma, Sanjay Sheppard, Mary Noelle

الإتاحة: https://doi.org/10.1038/s41436-020-00946-5Test
https://openaccess.sgul.ac.uk/id/eprint/112371Test/
https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/112371/1/Arrhythmia_variant_interpretation_manuscript_GiM_FINAL_Figs_Tables.docxTest

المؤلفون: Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, Pg, Amin, As, Nannenberg, Ea, Ware, Js, Whiffin, N, Mazzarotto, F, Škorić-Milosavljević, 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, 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, Behr, Er, Barc, J, Bezzina, Cr

المساهمون: Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-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)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: variant interpretation LQTS Brugada ACMG/AMP guidelines, variant interpretation, LQTS, Brugada, ACMG/AMP guidelines, [SDV]Life Sciences [q-bio]

العلاقة: inserm-04021331; https://inserm.hal.science/inserm-04021331Test; https://inserm.hal.science/inserm-04021331/documentTest; https://inserm.hal.science/inserm-04021331/file/Walsch%20R%20rare%20varainst%20interpretation%20Gen%20Med%202021.pdfTest

الإتاحة: https://doi.org/10.1038/s41436-020-00946-5Test
https://inserm.hal.science/inserm-04021331Test
https://inserm.hal.science/inserm-04021331/documentTest
https://inserm.hal.science/inserm-04021331/file/Walsch%20R%20rare%20varainst%20interpretation%20Gen%20Med%202021.pdfTest

المؤلفون: Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, Pg, Amin, As, Nannenberg, Ea, Ware, Js, Whiffin, N, Mazzarotto, F, Škorić-Milosavljević, 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, 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, Behr, Er, Barc, J, Bezzina, Cr

المساهمون: Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-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)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: variant interpretation LQTS Brugada ACMG/AMP guidelines, variant interpretation, LQTS, Brugada, ACMG/AMP guidelines, [SDV]Life Sciences [q-bio]

العلاقة: inserm-04021331; https://inserm.hal.science/inserm-04021331Test; https://inserm.hal.science/inserm-04021331/documentTest; https://inserm.hal.science/inserm-04021331/file/Walsch%20R%20rare%20varainst%20interpretation%20Gen%20Med%202021.pdfTest

الإتاحة: https://doi.org/10.1038/s41436-020-00946-5Test
https://inserm.hal.science/inserm-04021331Test
https://inserm.hal.science/inserm-04021331/documentTest
https://inserm.hal.science/inserm-04021331/file/Walsch%20R%20rare%20varainst%20interpretation%20Gen%20Med%202021.pdfTest