Zobrazeno 1 - 10
of 105
pro vyhledávání: '"Lahrouchi N"'
Autor:
Škorić-Milosavljević, D, Tadros, R, Bosada, FM, Tessadori, F, van Weerd, JH, Woudstra, OI, Tjong, FVY, Lahrouchi, N, Bajolle, F, Cordell, HJ, Agopian, AJ, Blue, GM, Barge-Schaapveld, DQCM, Gewillig, M, Preuss, C, Lodder, EM, Barnett, P, Ilgun, A, Beekman, L, van Duijvenboden, K, Bokenkamp, R, Müller-Nurasyid, M, Vliegen, HW, Konings, TC, van Melle, JP, van Dijk, APJ, van Kimmenade, RRJ, Roos-Hesselink, JW, Sieswerda, GT, Meijboom, F, Abdul-Khaliq, H, Berger, F, Dittrich, S, Hitz, M-P, Moosmann, J, Riede, F-T, Schubert, S, Galan, P, Lathrop, M, Munter, HM, Al-Chalabi, A, Shaw, CE, Shaw, PJ, Morrison, KE, Veldink, JH, van den Berg, LH, Evans, S, Nobrega, MA, Aneas, I, Radivojkov-Blagojević, M, Meitinger, T, Oechslin, E, Mondal, T, Bergin, L, Smythe, JF, Altamirano-Diaz, L, Lougheed, J, Bouma, BJ, Chaix, M-A, Kline, J, Bassett, AS, Andelfinger, G, van der Palen, RLF, Bouvagnet, P, Clur, S-AB, Breckpot, J, Kerstjens-Frederikse, WS, Winlaw, DS, Bauer, UMM, Mital, S, Goldmuntz, E, Keavney, B, Bonnet, D, Mulder, BJ, Tanck, MWT, Bakkers, J, Christoffels, VM, Boogerd, CJ, Postma, AV, Bezzina, CR
Publikováno v:
Circ Res
Circulation Research. Lippincott Williams & Wilkins
Circulation Research, 130, 166-180
Circulation Research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Circulation Research, 130, 2, pp. 166-180
Circulation Research, 130(2), 166-180. Lippincott Williams & Wilkins
Circulation research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Paediatrics Publications
Circulation research, 130(2), 166-180. Lippincott Williams and Wilkins
KORA-Study Group 2022, ' Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries ', Circulation Research, vol. 130, no. 2, pp. 166-180 . https://doi.org/10.1161/CIRCRESAHA.120.317107
Circ. Res. 130, 166-180 (2021)
Circulation Research, 130(2), 166-180. Lippincott Williams and Wilkins
Circulation Research. Lippincott Williams & Wilkins
Circulation Research, 130, 166-180
Circulation Research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Circulation Research, 130, 2, pp. 166-180
Circulation Research, 130(2), 166-180. Lippincott Williams & Wilkins
Circulation research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Paediatrics Publications
Circulation research, 130(2), 166-180. Lippincott Williams and Wilkins
KORA-Study Group 2022, ' Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries ', Circulation Research, vol. 130, no. 2, pp. 166-180 . https://doi.org/10.1161/CIRCRESAHA.120.317107
Circ. Res. 130, 166-180 (2021)
Circulation Research, 130(2), 166-180. Lippincott Williams and Wilkins
Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majori
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Autor:
Surendran, P, Feofanova, EV, Lahrouchi, N, Ntalla, I, Karthikeyan, S, Cook, J, Chen, L, Mifsud, B, Yao, C, Kraja, AT, Cartwright, JH, Hellwege, JN, Giri, A, Tragante, V, Thorleifsson, G, Liu, DJ, Prins, BP, Stewart, ID, Cabrera, CP, Eales, JM, Akbarov, A, Auer, PL, Bielak, LF, Bis, JC, Braithwaite, VS, Brody, JA, Daw, EW, Warren, HR, Drenos, F, Nielsen, SF, Faul, JD, Fauman, EB, Fava, C, Ferreira, T, Foley, CN, Franceschini, N, Gao, H, Giannakopoulou, O, Giulianini, F, Gudbjartsson, DF, Guo, X, Harris, SE, Havulinna, AS, Helgadottir, A, Huffman, JE, Hwang, S-J, Kanoni, S, Kontto, J, Larson, MG, Li-Gao, R, Lindstrom, J, Lotta, LA, Lu, Y, Luan, J, Mahajan, A, Malerba, G, Masca, NGD, Mei, H, Menni, C, Mook-Kanamori, DO, Mosen-Ansorena, D, Muller-Nurasyid, M, Pare, G, Paul, DS, Perola, M, Poveda, A, Rauramaa, R, Richard, M, Richardson, TG, Sepulveda, N, Sim, X, Smith, AV, Smith, JA, Staley, JR, Stanakova, A, Sulem, P, Theriault, S, Thorsteinsdottir, U, Trompet, S, Varga, TV, Velez Edwards, DR, Veronesi, G, Weiss, S, Willems, SM, Yao, J, Young, R, Yu, B, Zhang, W, Zhao, J-H, Zhao, W, Evangelou, E, Aeschbacher, S, Asllanaj, E, Blankenberg, S, Bonnycastle, LL, Bork-Jensen, J, Brandslund, I, Braund, PS, Burgess, S, Cho, K, Christensen, C, Connell, J, De Mutsert, R, Dominiczak, AF, Dorr, M, Eiriksdottir, G, Farmaki, A-E, Gaziano, JM, Grarup, N, Grove, ML, Hallmans, G, Hansen, T, Have, CT, Heiss, G, Jorgensen, ME, Jousilahti, P, Kajantie, E, Kamat, M, Karajamaki, A, Karpe, F, Koistinen, HA, Kovesdy, CP, Kuulasmaa, K, Laatikainen, I, Lannfelt, L, Lee, I-T, Lee, W-J, Linneberg, A, Martin, LW, Moitry, M, Nadkarni, G, Neville, MJ, Palmer, CNA, Papanicolaou, GJ, Pedersen, O, Peters, J, Poulter, N, Rasheed, A, Rasmussen, KL, Rayner, NW, Magi, R, Renstrom, F, Rettig, R, Rossouw, J, Schreiner, PJ, Sever, PS, Sigurdsson, EL, Skaaby, T, Sun, YV, Sundstrom, J, Thorgeirsson, G, Esko, T, Trabetti, E, Tsao, PS, Tuomi, T, Turner, ST, Tzoulaki, I, Vaartjes, I, Vergnaud, A-C, Willer, CJ, Wilson, PWF, Witte, DR, Yonova-Doing, E, Zhang, H, Aliya, N, Almgren, P, Amouyel, P, Asselbergs, FW, Barnes, MR, Blakemore, AI, Boehnke, M, Bots, ML, Bottinger, EP, Buring, JE, Chambers, JC, Chen, Y-DI, Chowdhury, R, Conen, D, Correa, A, Davey Smith, G, Boer, RAD, Deary, IJ, Dedoussis, G, Deloukas, P, Di Angelantonio, E, Elliott, P, Felix, SB, Ferrieres, J, Ford, I, Fornage, M, Franks, PW, Franks, S, Frossard, P, Gambaro, G, Gaunt, TR, Groop, L, Gudnason, V, Harris, TB, Hayward, C, Hennig, BJ, Herzig, K-H, Ingelsson, E, Tuomilehto, J, Jarvelin, M-R, Jukema, JW, Kardia, SLR, Kee, F, Kooner, JS, Kooperberg, C, Launer, LJ, Lind, L, Loos, RJF, Majumder, AAS, Laakso, M, McCarthy, MI, Melander, O, Mohlke, KL, Murray, AD, Nordestgaard, BG, Orho-Melander, M, Packard, CJ, Padmanabhan, S, Palmas, W, Polasek, O, Porteous, DJ, Prentice, AM, Province, MA, Relton, CL, Rice, K, Ridker, PM, Rolandsson, O, Rosendaal, FR, Rotter, JI, Rudan, I, Salomaa, V, Samani, NJ, Sattar, N, Sheu, WH-H, Smith, BH, Soranzo, N, Spector, TD, Starr, JM, Sebert, S, Taylor, KD, Lakka, TA, Timpson, NJ, Tobin, MD, Van der Harst, P, Van der Meer, P, Ramachandran, VS, Verweij, N, Virtamo, J, Volker, U, Weir, DR, Zeggini, E, Charchar, FJ, Wareham, NJ, Langenberg, C, Tomaszewski, M, Butterworth, AS, Caulfield, MJ, Danesh, J, Edwards, TL, Holm, H, Hung, AM, Lindgren, CM, Liu, C, Manning, AK, Morris, AP, Morrison, AC, O'Donnell, CJ, Psaty, BM, Saleheen, D, Stefansson, K, Boerwinkle, E, Chasman, DI, Levy, D, Newton-Cheh, C, Munroe, PB, Howson, JMM
Publikováno v:
Lifelines Cohort Study, EPIC-CVD, EPIC-InterAct, Understanding Society Scientific Group & Million Veteran Program 2021, ' Publisher Correction : Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics, vol. 53, no. 5, 762 . https://doi.org/10.1038/s41588-021-00832-z
In the version of this article originally published, the e-mail address of corresponding author Patricia B. Munroe was incorrect. The error has been corrected in the HTML and PDF versions of the article.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca24b467be4299d8e41d6ecf1e8f4f28
https://portal.findresearcher.sdu.dk/da/publications/45d317bb-a79e-419e-a69b-f5b60c70fd68
https://portal.findresearcher.sdu.dk/da/publications/45d317bb-a79e-419e-a69b-f5b60c70fd68
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:
Lahrouchi, N.
Susceptibility to the majority of human disease is to a varying extent determined by genetic alterations in an individual’s genome. This implies that the identification of genetic factors that predispose to human disease is important as it enables
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::258c678af234b716800960d1a0959d50
https://pure.amc.nl/en/publications/dissecting-genetic-risk-in-common-and-rare-inherited-disorders(42de1a53-e7c2-4491-94cc-ba18d6787b76).html
https://pure.amc.nl/en/publications/dissecting-genetic-risk-in-common-and-rare-inherited-disorders(42de1a53-e7c2-4491-94cc-ba18d6787b76).html
Autor:
Surendran, P., Feofanova, E. V., Lahrouchi, N., Ntalla, I., Karthikeyan, S., Cook, J., Chen, L., Mifsud, B., Yao, C., Kraja, A. T., Cartwright, J. H., Hellwege, J. N., Giri, A., Tragante, V., Thorleifsson, G., Liu, D. J., Prins, B. P., Stewart, I. D., Cabrera, C. P., Eales, J. M., Akbarov, A., Auer, P. L., Bielak, L. F., Bis, J. C., Braithwaite, V. S., Brody, J. A., Daw, E. W., Warren, H. R., Drenos, F., Nielsen, S. F., Faul, J. D., Fauman, E. B., Fava, C., Ferreira, T., Foley, C. N., Franceschini, N., Gao, H., Giannakopoulou, O., Giulianini, F., Gudbjartsson, D. F., Guo, X., Harris, S. E., Havulinna, A. S., Helgadottir, A., Huffman, J. E., Hwang, S. -J., Kanoni, S., Kontto, J., Larson, M. G., Li-Gao, R., Lindstrom, J., Lotta, L. A., Lu, Y., Luan, J., Mahajan, A., Malerba, G., Masca, N. G. D., Mei, H., Menni, C., Mook-Kanamori, D. O., Mosen-Ansorena, D., Muller-Nurasyid, M., Pare, G., Paul, D. S., Perola, M., Poveda, A., Rauramaa, R., Richard, M., Richardson, T. G., Sepulveda, N., Sim, X., Smith, A. V., Smith, J. A., Staley, J. R., Stanakova, A., Sulem, P., Theriault, S., Thorsteinsdottir, U., Trompet, S., Varga, T. V., Velez Edwards, D. R., Veronesi, G., Weiss, S., Willems, S. M., Yao, J., Young, R., Yu, B., Zhang, W., Zhao, J. -H., Zhao, W., Evangelou, E., Aeschbacher, S., Asllanaj, E., Blankenberg, S., Bonnycastle, L. L., Bork-Jensen, J., Brandslund, I., Braund, P. S., Burgess, S., Cho, K., Christensen, C., Connell, J., Mutsert, R., Dominiczak, A. F., Dorr, M., Eiriksdottir, G., Farmaki, A. -E., Gaziano, J. M., Grarup, N., Grove, M. L., Hallmans, G., Hansen, T., Have, C. T., Heiss, G., Jorgensen, M. E., Jousilahti, P., Kajantie, E., Kamat, M., Karajamaki, A. M., Karpe, F., Koistinen, H. A., Kovesdy, C. P., Kuulasmaa, K., Laatikainen, T., Lannfelt, L., Lee, I. -T., Lee, W. -J., de Boer, R. A., van der Harst, P., van der Meer, P., Verweij, N., Linneberg, A., Martin, L. W., Moitry, M., Nadkarni, G., Neville, M. J., Palmer, C. N. A., Papanicolaou, G. J., Pedersen, O., Peters, J., Poulter, N., Rasheed, A., Rasmussen, K. L., Rayner, N. W., Magi, R., Renstrom, F., Rettig, R., Rossouw, J., Schreiner, P. J., Sever, P. S., Sigurdsson, E. L., Skaaby, T., Sun, Y. V., Sundstrom, J., Thorgeirsson, G., Esko, T., Trabetti, E., Tsao, P. S., Tuomi, T., Turner, S. T., Tzoulaki, I., Vaartjes, I., Vergnaud, A. -C., Willer, C. J., Wilson, P. W. F., Witte, D. R., Yonova-Doing, E., Zhang, H., Aliya, N., Almgren, P., Amouyel, P., Asselbergs, F. W., Barnes, M. R., Blakemore, A. I., Boehnke, M., Bots, M. L., Bottinger, E. P., Buring, J. E., Chambers, J. C., Chen, Y. -D. I., Chowdhury, R., Conen, D., Correa, A., Davey Smith, G., Boer, R. A., Deary, I. J., Dedoussis, G., Deloukas, P., Di Angelantonio, E., Elliott, P., Butterworth, A. S., Danesh, J., Langenberg, C., Mccarthy, M. I., Franks, P. W., Rolandsson, O., Wareham, N. J., Felix, S. B., Ferrieres, J., Ford, I., Fornage, M., Franks, S., Frossard, P., Gambaro, G., Gaunt, T. R., Groop, L., Gudnason, V., Harris, T. B., Hayward, C., Hennig, B. J., Herzig, K. -H., Ingelsson, E., Tuomilehto, J., Jarvelin, M. -R., Jukema, J. W., Kardia, S. L. R., Kee, F., Kooner, J. S., Kooperberg, C., Launer, L. J., Lind, L., Loos, R. J. F., Majumder, A. S., Laakso, M., Melander, O., Mohlke, K. L., Murray, A. D., Nordestgaard, B. G., Orho-Melander, M., Packard, C. J., Padmanabhan, S., Palmas, W., Polasek, O., Porteous, D. J., Prentice, A. M., Province, M. A., Relton, C. L., Rice, K., Ridker, P. M., Rosendaal, F. R., Rotter, J. I., Rudan, I., Salomaa, V., Samani, N. J., Sattar, N., Sheu, W. H. -H., Smith, B. H., Soranzo, N., Spector, T. D., Starr, J. M., Sebert, S., Taylor, K. D., Lakka, T. A., Timpson, N. J., Tobin, M. D., Zeggini, E., Ramachandran, V. S., Virtamo, J., Volker, U., Weir, D. R., Charchar, F. J., Edwards, D. R. V., Edwards, T. L., Hung, A. M., O'Donnell, C. J., Tomaszewski, M., Caulfield, M. J., Holm, H., Lindgren, C. M., Liu, C., Manning, A. K., Morris, A. P., Morrison, A. C., Psaty, B. M., Saleheen, D., Stefansson, K., Boerwinkle, E., Chasman, D. I., Levy, D., Newton-Cheh, C., Munroe, P. B., Howson, J. M. M.
Publikováno v:
Nature Genetics, 52(12). NATURE RESEARCH
Surendran, P, Feofanova, E V, Lahrouchi, N, Ntalla, I, Karthikeyan, S, Cook, J, Chen, L, Mifsud, B, Yao, C, Kraja, A T, Cartwright, J H, Hellwege, J N, Giri, A, Tragante, V, Thorleifsson, G, Liu, D J, Prins, B P, Stewart, I D, Cabrera, C P, Eales, J M, Akbarov, A, Auer, P L, Bielak, L F, Bis, J C, Braithwaite, V S, Brody, J A, Daw, E W, Warren, H R, Drenos, F, Nielsen, S F, Faul, J D, Fauman, E B, Fava, C, Ferreira, T, Foley, C N, Franceschini, N, Gao, H, Giannakopoulou, O, Giulianini, F, Gudbjartsson, D F, Guo, X, Harris, S E, Grarup, N, Hansen, T, Jørgensen, M E, Pedersen, O, Rasmussen, K L, Sun, Y V, Witte, D R, Sun, Y V, Lifelines Cohort Study, EPIC-CVD, EPIC-InterAct, Understanding Society Scientific Group & Million Veteran Program 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics, vol. 52, no. 12, pp. 1314-1332 . https://doi.org/10.1038/s41588-020-00713-x
Lifelines Cohort Study, EPIC-CVD (Daniel Witte, member), EPIC-InterAct (Daniel Witte, member), Understanding Society Scientific Group & Million Veteran Program 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics . https://doi.org/10.1038/s41588-020-00713-x
Surendran, P, Feofanova, E V, Lahrouchi, N, Ntalla, I, Karthikeyan, S, Cook, J, Chen, L, Mifsud, B, Yao, C, Kraja, A T, Cartwright, J H, Hellwege, J N, Giri, A, Tragante, V, Thorleifsson, G, Liu, D J, Prins, B P, Stewart, I D, Cabrera, C P, Eales, J, Akbarov, A, Auer, P L, Bielak, L F, Bis, J C, Braithwaite, V S, Brody, J A, Daw, E W, Warren, H R, Drenos, F, Nielsen, S F, Faul, J D, Fauman, E, Fava, C, Ferreira, T, Foley, C N, Franceschini, N, Gao, H, Giannakopoulou, O, Giulianini, F, Gudbjartsson, D F, Guo, X, Harris, S, Havulinna, A S, Helgadottir, A, Huffman, J E, Hwang, S-J, Kanoni, S, Kontto, J, Larson, M G, Li-Gao, R, Lindström, J, Lotta, L A, Lu, Y, Luan, J, Mahajan, A, Malerba, G, Masca, N G D, Mei, H, Menni, C, Mook-Kanamori, D O, Mosen-Ansorena, D, Müller-Nurasyid, M, Paré, G, Paul, D S, Perola, M, Poveda, A, Rauramaa, R, Richard, M, Richardson, T G, Sepúlveda, N, Sim, X, Smith, A V, Smith, J A, Staley, J R, Stančáková, A, Sulem, P, Thériault, S, Thorstensdottir, U, Trompet, S, Varga, T V, Velez Edwards, D R, Veronesi, G, Weiss, S, Willems, S M, Yao, J, Young, R, Yu, B, Zhang, W, Hua Zhao, J, Zhao, W, Evangelou, E, Aeschbacher, S, Asllanaj, E, Blankenberg, S, Bonnycastle, L L, Bork-Jensen, J, Brandslund, I, Braund, P S, Burgess, S, Cho, K, Christensen, C, Connelly, J, de Mutsert, R, Dominiczak, A F, Dörr, M, Eiriksdottir, G, Farmaki, A-E, Gaziano, J M, Grarup, N, Grove-Gaona, M L, Hallmans, G, Hansen, T, Have, C T, Heiss, G, Jørgensen, M E, Jousilahti, P, Kajantie, E, Kamat, M, Käräjämäki, A, Karpe, F, Koistinen, H A, Kovesdy, C P, Kuulasmaa, K, Laatikainen, T, Lannfelt, L, Lee, I, Lee, W, Linneberg, A, Martin, L W, Moitry, M, Nadkarni, G N, Neville, M J, Palmer, C N A, Papanicolau, G J, Pederson, O, Peters, J, Poulter, N, Rasheed, A, Rasmussen, K L, William Rayner, N, Mägi, R, Renström, F, Rettig, R, Rossouw, J, Schreiner, P J, Sever, P J, Sigurdsson, E L, Skaaby, T, Sun, Y V, Sundstrom, J, Thorgeirsson, G, Esko, T, Trabetti, E, Tsao, P S, Tuomi, T, Turner, S T, Tzoulaki, I, Vaartjes, I, Vergnaud, A-C, Willer, C J, Wilson, P W F, Witte, D R, Yonova-Doing, E, Zhang, H, Naheed, A, Almgren, P, Amouyel, P, Asselbergs, F W, Barnes, M R, Blakemore, A I F, Boehnke, M, Bots, M L, Bottinger, E P, Buring, J E, Chambers, J C, Ida Chen, Y-D, Chowdry, R, Conen, D, Correa, A, Smith, G D, De Boer, R A, Deary, I, Dedoussis, G, Deloukas, P, Di Angelantonio, E, Elliot, P, Felix, S B, Ferrières, J, Ford, I, Fornage, M, Franks, P W, Franks, S, Frossard, P, Gambaro, G, Gaunt, T R, Groop, L, Gudnason, V, Harris, T B, Hayward, C, Hennig, B J, Herzig, K-H, Ingelsson, E, Tuomilehto, J, Jarvelin, M-R, Wouter Jukema, J, Kardia, S L R, Kee, F, Kooner, J S, Kooperberg, C, Lenore, L J, Lind, L, Loos, R J F, al Shafi Majumder, A, Laakso, M, McCarthy, M I, Melander, O, Mohlke, K L, Murray, A D, Nordestgaard, B G, Orho-Melander, M, Packard, C J, Padmanabhan, S, Palmas, W, Polasek, O, Porteous, D J, Prentice, A M, Province, M A, Relton, C L, Rice, K, Ridker, P M, Rolandsson, O, Rosendaal, F R, Rotter, J I, Rudan, I, Salomaa, V, Samani, N J, Sattar, N, H-H Sheu, W, Smith, B H, Soranzo, N, Spector, T D, Starr, J, Sebert, S, Taylor, K D, Lakka, T A, Timpson, N J, Tobin, M D, van der Harst, P, van der Meer, P, Ramachandran, V S, Verweij, N, Virtamo, J, Völker, U, Weir, D R, Zeggini, E, Charchar, F J, Wareham, N J, Langenberg, C, Tomaszewski, M, Butterworth, A S, Caulfield, M, Danesh, J, Edwards, T L, Holm, H, Hung, A M, Lindgren, C M, Liu, C, Manning, A K, Morris, A P, Morrison, A C, O'Donnell, C J, Psaty, B M, Saleheen, D, Stefansson, K, Boerwinkle, E, Chasman, D I, Levy, D, Newton-Cheh, C H, Munroe, P B & Howson, J M M 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics . https://doi.org/10.1038/s41588-020-00713-x
Surendran, P, Feofanova, E V, Lahrouchi, N, Ntalla, I, Karthikeyan, S, Cook, J, Chen, L, Mifsud, B, Yao, C, Kraja, A T, Cartwright, J H, Hellwege, J N, Giri, A, Tragante, V, Thorleifsson, G, Liu, D J, Prins, B P, Stewart, I D, Cabrera, C P, Eales, J M, Akbarov, A, Auer, P L, Bielak, L F, Bis, J C, Braithwaite, V S, Brody, J A, Daw, E W, Warren, H R, Drenos, F, Nielsen, S F, Faul, J D, Fauman, E B, Fava, C, Ferreira, T, Foley, C N, Franceschini, N, Gao, H, Giannakopoulou, O, Giulianini, F, Gudbjartsson, D F, Guo, X, Harris, S E, Havulinna, A S, Helgadottir, A, Huffman, J E, Hwang, S J, Brandslund, I, Christensen, C, Hansen, T, Jørgensen, M E, Lifelines Cohort Study, EPIC-CVD, EPIC-InterAct, Understanding Society Scientific Group & Million Veteran Program 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics, vol. 52, no. 12, pp. 1314-1332 . https://doi.org/10.1038/s41588-020-00713-x
Nature Genetics, 52(12), 1314-1332. Nature Publishing Group
NATURE GENETICS
Surendran, P, Timpson, N J, Staley, J R, Richardson, T G, Davey Smith, G, Gaunt, T R, Relton, C L, Munroe, P B & Howson, J M M 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics, vol. 52 . https://doi.org/10.1038/s41588-020-00713-x
Nature genetics
Nature genetics, 52(12), 1314-1332. Nature Publishing Group
Surendran, P, Feofanova, E V, Lahrouchi, N, Ntalla, I, Karthikeyan, S, Cook, J, Chen, L, Mifsud, B, Yao, C, Kraja, A T, Cartwright, J H, Hellwege, J N, Giri, A, Tragante, V, Thorleifsson, G, Liu, D J, Prins, B P, Stewart, I D, Cabrera, C P, Eales, J M, Akbarov, A, Auer, P L, Bielak, L F, Bis, J C, Braithwaite, V S, Brody, J A, Daw, E W, Warren, H R, Drenos, F, Nielsen, S F, Faul, J D, Fauman, E B, Fava, C, Ferreira, T, Foley, C N, Franceschini, N, Gao, H, Giannakopoulou, O, Giulianini, F, Gudbjartsson, D F, Guo, X, Harris, S E, Grarup, N, Hansen, T, Jørgensen, M E, Pedersen, O, Rasmussen, K L, Sun, Y V, Witte, D R, Sun, Y V, Lifelines Cohort Study, EPIC-CVD, EPIC-InterAct, Understanding Society Scientific Group & Million Veteran Program 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics, vol. 52, no. 12, pp. 1314-1332 . https://doi.org/10.1038/s41588-020-00713-x
Lifelines Cohort Study, EPIC-CVD (Daniel Witte, member), EPIC-InterAct (Daniel Witte, member), Understanding Society Scientific Group & Million Veteran Program 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics . https://doi.org/10.1038/s41588-020-00713-x
Surendran, P, Feofanova, E V, Lahrouchi, N, Ntalla, I, Karthikeyan, S, Cook, J, Chen, L, Mifsud, B, Yao, C, Kraja, A T, Cartwright, J H, Hellwege, J N, Giri, A, Tragante, V, Thorleifsson, G, Liu, D J, Prins, B P, Stewart, I D, Cabrera, C P, Eales, J, Akbarov, A, Auer, P L, Bielak, L F, Bis, J C, Braithwaite, V S, Brody, J A, Daw, E W, Warren, H R, Drenos, F, Nielsen, S F, Faul, J D, Fauman, E, Fava, C, Ferreira, T, Foley, C N, Franceschini, N, Gao, H, Giannakopoulou, O, Giulianini, F, Gudbjartsson, D F, Guo, X, Harris, S, Havulinna, A S, Helgadottir, A, Huffman, J E, Hwang, S-J, Kanoni, S, Kontto, J, Larson, M G, Li-Gao, R, Lindström, J, Lotta, L A, Lu, Y, Luan, J, Mahajan, A, Malerba, G, Masca, N G D, Mei, H, Menni, C, Mook-Kanamori, D O, Mosen-Ansorena, D, Müller-Nurasyid, M, Paré, G, Paul, D S, Perola, M, Poveda, A, Rauramaa, R, Richard, M, Richardson, T G, Sepúlveda, N, Sim, X, Smith, A V, Smith, J A, Staley, J R, Stančáková, A, Sulem, P, Thériault, S, Thorstensdottir, U, Trompet, S, Varga, T V, Velez Edwards, D R, Veronesi, G, Weiss, S, Willems, S M, Yao, J, Young, R, Yu, B, Zhang, W, Hua Zhao, J, Zhao, W, Evangelou, E, Aeschbacher, S, Asllanaj, E, Blankenberg, S, Bonnycastle, L L, Bork-Jensen, J, Brandslund, I, Braund, P S, Burgess, S, Cho, K, Christensen, C, Connelly, J, de Mutsert, R, Dominiczak, A F, Dörr, M, Eiriksdottir, G, Farmaki, A-E, Gaziano, J M, Grarup, N, Grove-Gaona, M L, Hallmans, G, Hansen, T, Have, C T, Heiss, G, Jørgensen, M E, Jousilahti, P, Kajantie, E, Kamat, M, Käräjämäki, A, Karpe, F, Koistinen, H A, Kovesdy, C P, Kuulasmaa, K, Laatikainen, T, Lannfelt, L, Lee, I, Lee, W, Linneberg, A, Martin, L W, Moitry, M, Nadkarni, G N, Neville, M J, Palmer, C N A, Papanicolau, G J, Pederson, O, Peters, J, Poulter, N, Rasheed, A, Rasmussen, K L, William Rayner, N, Mägi, R, Renström, F, Rettig, R, Rossouw, J, Schreiner, P J, Sever, P J, Sigurdsson, E L, Skaaby, T, Sun, Y V, Sundstrom, J, Thorgeirsson, G, Esko, T, Trabetti, E, Tsao, P S, Tuomi, T, Turner, S T, Tzoulaki, I, Vaartjes, I, Vergnaud, A-C, Willer, C J, Wilson, P W F, Witte, D R, Yonova-Doing, E, Zhang, H, Naheed, A, Almgren, P, Amouyel, P, Asselbergs, F W, Barnes, M R, Blakemore, A I F, Boehnke, M, Bots, M L, Bottinger, E P, Buring, J E, Chambers, J C, Ida Chen, Y-D, Chowdry, R, Conen, D, Correa, A, Smith, G D, De Boer, R A, Deary, I, Dedoussis, G, Deloukas, P, Di Angelantonio, E, Elliot, P, Felix, S B, Ferrières, J, Ford, I, Fornage, M, Franks, P W, Franks, S, Frossard, P, Gambaro, G, Gaunt, T R, Groop, L, Gudnason, V, Harris, T B, Hayward, C, Hennig, B J, Herzig, K-H, Ingelsson, E, Tuomilehto, J, Jarvelin, M-R, Wouter Jukema, J, Kardia, S L R, Kee, F, Kooner, J S, Kooperberg, C, Lenore, L J, Lind, L, Loos, R J F, al Shafi Majumder, A, Laakso, M, McCarthy, M I, Melander, O, Mohlke, K L, Murray, A D, Nordestgaard, B G, Orho-Melander, M, Packard, C J, Padmanabhan, S, Palmas, W, Polasek, O, Porteous, D J, Prentice, A M, Province, M A, Relton, C L, Rice, K, Ridker, P M, Rolandsson, O, Rosendaal, F R, Rotter, J I, Rudan, I, Salomaa, V, Samani, N J, Sattar, N, H-H Sheu, W, Smith, B H, Soranzo, N, Spector, T D, Starr, J, Sebert, S, Taylor, K D, Lakka, T A, Timpson, N J, Tobin, M D, van der Harst, P, van der Meer, P, Ramachandran, V S, Verweij, N, Virtamo, J, Völker, U, Weir, D R, Zeggini, E, Charchar, F J, Wareham, N J, Langenberg, C, Tomaszewski, M, Butterworth, A S, Caulfield, M, Danesh, J, Edwards, T L, Holm, H, Hung, A M, Lindgren, C M, Liu, C, Manning, A K, Morris, A P, Morrison, A C, O'Donnell, C J, Psaty, B M, Saleheen, D, Stefansson, K, Boerwinkle, E, Chasman, D I, Levy, D, Newton-Cheh, C H, Munroe, P B & Howson, J M M 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics . https://doi.org/10.1038/s41588-020-00713-x
Surendran, P, Feofanova, E V, Lahrouchi, N, Ntalla, I, Karthikeyan, S, Cook, J, Chen, L, Mifsud, B, Yao, C, Kraja, A T, Cartwright, J H, Hellwege, J N, Giri, A, Tragante, V, Thorleifsson, G, Liu, D J, Prins, B P, Stewart, I D, Cabrera, C P, Eales, J M, Akbarov, A, Auer, P L, Bielak, L F, Bis, J C, Braithwaite, V S, Brody, J A, Daw, E W, Warren, H R, Drenos, F, Nielsen, S F, Faul, J D, Fauman, E B, Fava, C, Ferreira, T, Foley, C N, Franceschini, N, Gao, H, Giannakopoulou, O, Giulianini, F, Gudbjartsson, D F, Guo, X, Harris, S E, Havulinna, A S, Helgadottir, A, Huffman, J E, Hwang, S J, Brandslund, I, Christensen, C, Hansen, T, Jørgensen, M E, Lifelines Cohort Study, EPIC-CVD, EPIC-InterAct, Understanding Society Scientific Group & Million Veteran Program 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics, vol. 52, no. 12, pp. 1314-1332 . https://doi.org/10.1038/s41588-020-00713-x
Nature Genetics, 52(12), 1314-1332. Nature Publishing Group
NATURE GENETICS
Surendran, P, Timpson, N J, Staley, J R, Richardson, T G, Davey Smith, G, Gaunt, T R, Relton, C L, Munroe, P B & Howson, J M M 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics, vol. 52 . https://doi.org/10.1038/s41588-020-00713-x
Nature genetics
Nature genetics, 52(12), 1314-1332. Nature Publishing Group
Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to ~1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41be04c483fb8e8e9323cd3dfeb044d5
http://hdl.handle.net/11383/2125020
http://hdl.handle.net/11383/2125020
Autor:
Adadi, N.1,2 najlae.adadi@yahoo.fr, Lahrouchi, N.3, Bouhouch, R.4, Fellat, I.4, Amri, R.5, Alders, M.6, Sefiani, A.1,2, Bezzina, C.3, Ratbi, I.2
Publikováno v:
Journal of Medical Case Reports. 4/2/2017, Vol. 11, p1-5. 5p.
Autor:
Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, de Souza CFM, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G
GNB5 encodes the G protein beta subunit 5 and is involved in inhibitory G protein signaling. Here, we report mutations in GNB5 that are associated with heart-rate disturbance, eye disease, intellectual disability, gastric problems, hypotonia, and sei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::79b2ae479c6aac9627bfad0b2f0289cb
http://hdl.handle.net/11588/873942
http://hdl.handle.net/11588/873942
Autor:
Lahrouchi, N, Raju, H, Lodder, E, Papatheodorou, S, Ware, JS, Papadakis, M, Tadros, R, Skinner, JR, Crawford, J, Love, DR, Pua, CJ, Soh, BY, Bhalshankar, JD, Govind, R, Tfelt-Hansen, J, Winkel, BG, Werf, C, Wijeyeratne, YD, Mellor, G, Till, J, Cohen, M, Tome-Esteban, M, Sharma, S, Wilde, AAM, Cook, SA, Bezzina, CR, Sheppard, MN, Behr, E
Post-mortem genetic testing (‘molecular autopsy’) of sudden arrhythmic death syndrome (SADS) cases can establish a clear molecular diagnosis in a substantial minority. This complements family evaluation. Classification of pathogenicity of genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::c5c00fb7db6dbae4ada939cbb7ddfb8d
http://hdl.handle.net/10044/1/44696
http://hdl.handle.net/10044/1/44696
Akademický článek
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