المؤلفون: Arking, DE, Pulit, SL, Crotti, L, Van der Harst, P, Munroe, PB, Koopmann, TT, Sotoodehnia, N, Rossin, EJ, Morley, M, Wang, X, Johnson, AD, Lundby, A, Gudbjartsson, DF, Noseworthy, PA, Eijgelsheim, M, Bradford, Y, Tarasov, KV, Dorr, M, Miiller-Nurasyid, M, Lahtinen, AM, Nolte, IM, Smith, AV, Bis, JC, Isaacs, A, Newhouse, SJ, Evans, DS, Post, WS, Waggott, D, Lyytikainen, LP, Hicks, AA, Eisele, L, Ellinghaus, D, Hayward, C, Navarro, P, Ulivi, S, Tanaka, T, Tester, DJ, Chatel, S, Gustafsson, S, Kumari, M, Morris, RW, Naluai, AT, Padmanabhan, S, Kluttig, A, Strohmer, B, Panayiotou, AG, Torres, M, Knoflach, M, Hubacek, JA, Slowikowski, K, Raychaudhuri, S, Kumar, RD, Harris, TB, Launer, LJ, Shuldiner, AR, Alonso, A, Bader, JS, Ehret, G, Huang, H, Kao, WHL, Strait, JB, Macfarlane, PW, Brown, M, Caulfield, MJ, Samani, NJ, Kronenberg, F, Willeit, J, Smith, JG, Greiser, KH, Schwabedissen, HMZ, Werdan, K, Carella, M, Zelante, L, Heckbert, SR, Psaty, BM, Rotter, JI, Kolcic, I, Poagek, O, Wright, AF, Griffin, M, Daly, MJ, Arnar, DO, Holm, H, Thorsteinsdottir, U, Denny, JC, Roden, DM, Zuvich, RL, Emilsson, V, Plump, AS, Larson, MG, O'Donnell, CJ, Yin, X, Bobboll, M, D'Adamo, AP, Iorio, A, Sinagra, G, Carracedo, A, Cummings, SR, Nalls, MA, Jula, A, Kontula, KK, Marjamaa, A, Oikarinen, L, Perola, M, Porthan, K, Erbe, R, Hoffmann, P, Jockel, KH, Kalsch, H, Nothen, MM, Den Hoed, M, Loos, RJF, Thelle, DS, Gieger, C, Meitinger, T, Perz, S, Peters, A, Pruchal, H, Sinner, MF, Waldenberger, M, De Boer, RA, Franke, L, Van der Vleuten, PA, Beckmann, BM, Martens, E, Bardail, A, Hofman, N, Wilde, AAM, Behr, ER, Dalageorgou, C, Giudicessi, JR, Medeiros-Domingo, A, Barc, J, Kyndt, F, Probst, V, Ghidoni, A, Insolia, R, Hamilton, RM, Scherer, SW, Brandimarto, J, Margulies, K, Moravec, CE, Del Greco, F, Fuchsberger, C, O'Connell, JR, Lee, WK, Watt, GCM, Campbell, H, Wild, SH, El Mokhtari, NE, Frey, N, Asselbergs, FW, Leach, IM, Navis, G, Van den Berg, MP, Van Veldhuisen, DJ, Kellis, M, Krijthe, BP, Franco, OH, Hofman, A, Kors, JA, Uitterlinden, AG, Witteman, JCM, Kedenko, L, Lamina, C, Oostra, BA, Abecasis, GR, Lakatta, EG, Mulas, A, Orru, M, Schlessinger, D, Uda, M, Markus, MRP, Volker, U, Snieder, H, Spector, TD, Arnlov, J, Lind, L, Sundstrom, J, Syvanen, AC, Kivimaki, M, Kahonen, M, Mononen, N, Raitakari, IT, Viikari, JS, Adamkova, V, Kiech, S, Brion, M, Nicolaides, AN, Paulweber, B, Haerting, J, Dominiczak, AF, Nyberg, F, Whincup, PH, Hingorani, AD, Schott, JJ, Bezzina, CR, Ingelsson, E, Ferrucci, L, Gaspariniin, P, Wilson, JF, Rudan, I, Franke, A, Miihleisen, TW, Pramstaller, PP, Lehtimaki, TJ, Paterson, AD, Parsa, A, Liu, Y, Van Duijn, CM, Siscovick, DS, Gudnason', V, Jamshidi, Y, Salomaa, V, Felix, SB, Sanna, S, Ritchie, MD, Stricker, BH, Stefansson, K, Boyer, LA, Cappola, TP, Olsen, JV, Lage, K, Schwartz, PJ, Kaab, S, Chakravarti, A, Ackerman, MJ, Pfeufer, A, De Bakker, PIW, Newton-Cheh, C

المصدر: Nature genetics. 46(8):826-836

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129508646

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, (2022-02-24)

Relation: https://zenodo.org/communities/escape-net; https://zenodo.org/communities/eu; oai:zenodo.org:7488743

الاتاحة: https://doi.org/10.1038/s41588-021-01007-6

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

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

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

المؤلفون: Gourraud, J, Le Diffon, T, Mansourati, J, Clementy, N, Thollet, A, Rajalu, A, Cotard, V, Kyndt, F, Martins, R, Sacher, F, Probst, V

المصدر: European Heart Journal ; volume 43, issue Supplement_2 ; ISSN 0195-668X 1522-9645

الاتاحة: https://doi.org/10.1093/eurheartj/ehac544.370
https://academic.oup.com/eurheartj/article-pdf/43/Supplement_2/ehac544.370/46362229/ehac544.370.pdf

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

الاتاحة: http://dx.doi.org/10.1016/j.acvdsp.2022.07.050
https://api.elsevier.com/content/article/PII:S1878648022002257?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878648022002257?httpAccept=text/plain

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

Relation: 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/2318/1766442; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090223596; https://www.nature.com/articles/s41436-020-00946-5

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

المؤلفون: Baudic, M., Murata, H., Bosada, F. M., Melo, U. S., Aizawa, T., Lindenbaum, P., Van Der Maarel, L. E., Guedon, A., Baron, E., Fremy, E., Foucal, A., Ishikawa, T., Ushinohama, H., Jurgens, S. J., Choi, S. H., Kyndt, F., Le Scouarnec, S., Wakker, V., Thollet, A., Rajalu, A., Takaki, T., Ohno, S., Shimizu, W., Horie, M., Kimura, T., Ellinor, P. T., Petit, Florence, Dulac, Y., Bru, P., Boland, A., Deleuze, J. F., Redon, R., Le Marec, H., Le Tourneau, T., Gourraud, J. B., Yoshida, Y., Makita, N., Vieyres, C., Makiyama, T., Mundlos, S., Christoffels, V. M., Probst, V., Schott, J. J., Barc, J.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Relation: Nat Commun; http://hdl.handle.net/20.500.12210/114496

الاتاحة: https://hdl.handle.net/20.500.12210/114496

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

Relation: 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/10281/298048; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097964476

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

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

Relation: https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdf; https://openaccess.sgul.ac.uk/id/eprint/112371/1/Arrhythmia_variant_interpretation_manuscript_GiM_FINAL_Figs_Tables.docx; 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/s41436-020-00946-5 SGUL Authors: Behr, Elijah Raphael Papadakis, Michael Sharma, Sanjay Sheppard, Mary Noelle

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/112371/
https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdf
https://openaccess.sgul.ac.uk/id/eprint/112371/1/Arrhythmia_variant_interpretation_manuscript_GiM_FINAL_Figs_Tables.docx

المؤلفون: Delhommeau, P, Marteau, L, Kyndt, F, Constant Dit Beaufils, AL, Warin-Fresse, K, Serfaty, JM, Rousseau, O, Karakachoff, M, Conan, E, Clero, S, Le Tourneau, T, Thollet, A, Trochu, JN, Probst, V, Piriou, N

المصدر: European Heart Journal - Cardiovascular Imaging ; volume 22, issue Supplement_1 ; ISSN 2047-2404 2047-2412

الاتاحة: https://doi.org/10.1093/ehjci/jeaa356.395
http://academic.oup.com/ehjcimaging/article-pdf/22/Supplement_1/jeaa356.395/36214680/jeaa356.395.pdf

المؤلفون: Ribeiro de Oliveira Mendes, B.B., Feliciangeli, S., Menard, M., Chatelain, F., Montnach, J., Nicolas, S., Ollivier, B., Baro, I., Schott, J., Probst, V., Kyndt, F., Denjoy, I., Lesage, F., Loussouarn, G., De Waard, M.

المصدر: Archives of Cardiovascular Diseases Supplements ; volume 13, issue 2, page 212-213 ; ISSN 1878-6480

الاتاحة: http://dx.doi.org/10.1016/j.acvdsp.2021.04.157
https://api.elsevier.com/content/article/PII:S1878648021001592?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878648021001592?httpAccept=text/plain

المؤلفون: Bun, S., Squara, F., Scarlatti, D., Theodore, G., Rouzier, C., Probst, V., Kyndt, F., Ferrari, E.

المصدر: Archives of Cardiovascular Diseases Supplements ; volume 13, issue 1, page 96 ; ISSN 1878-6480

الاتاحة: http://dx.doi.org/10.1016/j.acvdsp.2020.10.218
https://api.elsevier.com/content/article/PII:S1878648020304122?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878648020304122?httpAccept=text/plain

المؤلفون: Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, PG, Amin, AS, Nannenberg, EA, Ware, JS, Whiffin, N, Mazzarotto, F, Skoric-Milosavljevic, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, BM, Bezieau, 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, Ortuno, 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, Morner, 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, Kaeaeb, 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, Behr, ER, Barc, J, Bezzina, CR

المصدر: Genetics in Medicine (2020) (In press).

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

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10112002/1/Lambiase_Enhancing%20rare%20variant%20interpretation%20in%20inherited%20arrhythmias%20through%20quantitative%20analysis%20of%20consortium%20disease%20cohorts%20and%20population%20controls_AOP.pdf; https://discovery.ucl.ac.uk/id/eprint/10112002/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10112002/1/Lambiase_Enhancing%20rare%20variant%20interpretation%20in%20inherited%20arrhythmias%20through%20quantitative%20analysis%20of%20consortium%20disease%20cohorts%20and%20population%20controls_AOP.pdf
https://discovery.ucl.ac.uk/id/eprint/10112002/

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

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/112608/1/CIRCGEN.120.002911.pdf; Wijeyeratne, YD; Tanck, MW; Mizusawa, Y; Batchvarov, V; Barc, J; Crotti, L; Bos, JM; Tester, DJ; Muir, A; Veltmann, C; et al. Wijeyeratne, YD; Tanck, MW; Mizusawa, Y; Batchvarov, V; Barc, J; Crotti, L; Bos, JM; Tester, DJ; Muir, A; Veltmann, C; Ohno, S; Page, SP; Galvin, J; Tadros, R; Muggenthaler, M; Raju, H; Denjoy, I; Schott, J-J; Gourraud, J-B; Skoric-Milosavljevic, D; Nannenberg, EA; Redon, R; Papadakis, M; Kyndt, F; Dagradi, F; Castelletti, S; Torchio, M; Meitinger, T; Lichtner, P; Ishikawa, T; Wilde, AAM; Takahashi, K; Sharma, S; Roden, DM; Borggrefe, MM; McKeown, PP; Shimizu, W; Horie, M; Makita, N; Aiba, T; Ackerman, MJ; Schwartz, PJ; Probst, V; Bezzina, CR; Behr, ER (2020) SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families. Circ Genom Precis Med, 13 (6). ISSN 2574-8300 https://doi.org/10.1161/CIRCGEN.120.002911 SGUL Authors: Behr, Elijah Raphael Sharma, Sanjay

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/112608/
https://openaccess.sgul.ac.uk/id/eprint/112608/1/CIRCGEN.120.002911.pdf

المؤلفون: Marteau, L., Kyndt, F., Toquet, C., Serfaty, J.M., Guijarro, D., Le Gloan, L., Lande, G., Gourraud, J.B., Warin-Fresse, K., Conan, E., Thollet, A., Le Tourneau, T., Trochu, J.N., Probst, V., Piriou, N.

المصدر: Archives of Cardiovascular Diseases Supplements ; volume 12, issue 1, page 41 ; ISSN 1878-6480

الاتاحة: http://dx.doi.org/10.1016/j.acvdsp.2019.09.084
https://api.elsevier.com/content/article/PII:S1878648019306019?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878648019306019?httpAccept=text/plain

المؤلفون: Marteau, L, Kyndt, F, Toquet, C, Serfaty, J M, Guijarro, D, Le Gloan, L, Lande, G, Gourraud, J B, Warin Fresse, K, Conan, E, Thollet, A, Le Tourneau, T, Trochu, J N, Probst, V, Piriou, N

المصدر: European Heart Journal ; volume 40, issue Supplement_1 ; ISSN 0195-668X 1522-9645

الاتاحة: https://doi.org/10.1093/eurheartj/ehz748.0171
http://academic.oup.com/eurheartj/article-pdf/40/Supplement_1/ehz748.0171/30202326/ehz748.0171.pdf

المؤلفون: Minier, M., Probst, V., Mabo, P., Clerici, G., Babuty, D., Mansourati, J., Kyndt, F., Thollet, A., Sacher, F., Gourraud, J.B.

المصدر: Archives of Cardiovascular Diseases Supplements ; volume 11, issue 2, page 270-271 ; ISSN 1878-6480

الاتاحة: http://dx.doi.org/10.1016/j.acvdsp.2019.02.189
https://api.elsevier.com/content/article/PII:S1878648019302411?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878648019302411?httpAccept=text/plain

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., Papadakis M., Castelletti S., Torchio M., Ortuno C. G., Lacunza J., Giachino D. F., Cerrato N., Martins R. P., Campuzano O., Van Dooren S., Thollet A., Kyndt F., Mazzanti A., Clementy N., Bisson A., Corveleyn A., Stallmeyer B., Dittmann S., Saenen J., Noel A., Honarbakhsh S., Rudic B., Marzak H., Rowe M. K., Federspiel C., Le Page S., Placide L., Milhem A., Barajas-Martinez 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., Lichtner P., Ribases M., Meitinger T., Muller-Nurasyid M., Strauch K., Peters A., Schulz H., Schwettmann L., Leidl R., Heier 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., Bezieau 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., Kaab 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., Defaye P., Anselme F., Darmon J. P., Wiart F., de Asmundis C., Brugada P., Brugada R., Arbelo E., Brugada J., Mabo P., Behar N., Giustetto C., Molina M. S., Gimeno J. R., Hasdemir C., Schwartz P. J., Crotti L., 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.

المساهمون: 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., Papadakis, M., Castelletti, S., Torchio, M., Ortuno, C. G., Lacunza, J., Giachino, D. F., Cerrato, N., Martins, R. P., Campuzano, O., Van Dooren, S., Thollet, A., Kyndt, F., Mazzanti, A., Clementy, N., Bisson, A., Corveleyn, A., Stallmeyer, B., Dittmann, S., Saenen, J., Noel, A., Honarbakhsh, S., Rudic, B., Marzak, H., Rowe, M. K., Federspiel, C., Le Page, S., Placide, L., Milhem, A., Barajas-Martinez, 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., Lichtner, P., Ribases, M., Meitinger, T., Muller-Nurasyid, M., Strauch, K., Peters, A., Schulz, H., Schwettmann, L., Leidl, R., Heier, 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., Bezieau, 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., Kaab, S., Arnaout, A. A., Dupuis, J. -M., Pasquie, J. -L.

وصف الملف: STAMPA

Relation: volume:54; issue:5; firstpage:735; lastpage:735; numberofpages:1; journal:NATURE GENETICS; https://hdl.handle.net/11571/1472849; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85130214950

الاتاحة: https://hdl.handle.net/11571/1472849
https://doi.org/10.1038/s41588-022-01079-y

المؤلفون: Baruteau, A-E, Kyndt, F, Behr, ER, Vink, AS, Lachaud, M, Joong, A, Schott, J-J, Horie, M, Denjoy, I, Crotti, L, Shimizu, W, Bos, JM, Stephenson, EA, Wong, L, Abrams, DJ, Davis, AM, Winbo, A, Dubin, AM, Sanatani, S, Liberman, L, Kaski, JP, Rudic, B, Kwok, SY, Rieubland, C, Tfelt-Hansen, J, Van Hare, GF, Guyomarc'h-Delasalle, B, Blom, NA, Wijeyeratne, YD, Gourraud, J-B, Le Marec, H, Ozawa, J, Fressart, V, Lupoglazoff, J-M, Dagradi, F, Spazzolini, C, Aiba, T, Tester, DJ, Zahavich, LA, Beauséjour-Ladouceur, V, Jadhav, M, Skinner, JR, Franciosi, S, Krahn, AD, Abdelsayed, M, Ruben, PC, Yung, T-C, Ackerman, MJ, Wilde, AA, Schwartz, PJ, Probst, V

المصدر: European Heart Journal , 39 (31) pp. 2879-2887. (2018)

مصطلحات موضوعية: Brugada syndrome, Genotype–phenotype correlation, Long QT syndrome, Progressive cardiac conduction disorders, SCN5A, Sodium channelopathy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10055497/1/EURHEARTJ-D-17-02626_R1-3%20copy.pdf; https://discovery.ucl.ac.uk/id/eprint/10055497/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10055497/1/EURHEARTJ-D-17-02626_R1-3%20copy.pdf
https://discovery.ucl.ac.uk/id/eprint/10055497/

المؤلفون: Gourraud, J.B., Morio, F., Amara, N., Sacher, F., Mabo, P., Babuty, D., Mansourati, J., Pasquie, J.L., Maury, P., Jesel, L., Guyomarch, B., Kyndt, F., Barc, J., Thollet, A., Probst, V.

المصدر: European Heart Journal ; volume 38, issue suppl_1 ; ISSN 0195-668X 1522-9645

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الاتاحة: http://dx.doi.org/10.1093/eurheartj/ehx501.98
http://academic.oup.com/eurheartj/article-pdf/38/suppl_1/ehx501.98/19618897/ehx501.98.pdf