المؤلفون: Bhat, S, Rousseau, J, Michaud, C, Lourenço, CM, Stoler, JM, Louie, RJ, Clarkson, LK, Lichty, A, Koboldt, DC, Reshmi, SC, Sisodiya, SM, Hoytema van Konijnenburg, EMM, Koop, K, van Hasselt, PM, Démurger, F, Dubourg, C, Sullivan, BR, Hughes, SS, Thiffault, I, Tremblay, ES, Accogli, A, Srour, M, Blunck, R, Campeau, PM

المصدر: American Journal of Human Genetics , 111 (4) pp. 761-777. (2024)

مصطلحات موضوعية: Dysmorphism, global developmental delay, epilepsy, KCNB2, channel inactivation

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10194145Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10194145Test/

المؤلفون: Gorin, Michael, Moore, Anthony, Zhan, X, Larson, DE, Wang, C, Koboldt, DC, Sergeev, YV, Fulton, RS, Fulton, LL, Fronick, CC, Branham, KE, Bragg-Gresham, J

الوصول الحر: https://escholarship.org/uc/item/1j0241zcTest

المؤلفون: Weerts, MJA, Lanko, K, Guzmán-Vega, FJ, Jackson, A, Ramakrishnan, R, Cardona-Londoño, KJ, Peña-Guerra, KA, van Bever, Y, van Paassen, BW, Kievit, A, van Slegtenhorst, M, Allen, NM, Kehoe, CM, Robinson, HK, Pang, L, Banu, SH, Zaman, M, Efthymiou, S, Houlden, H, Järvelä, I, Lauronen, L, Määttä, T, Schrauwen, I, Leal, SM, Ruivenkamp, CAL, Barge-Schaapveld, DQCM, Peeters-Scholte, CMPCD, Galehdari, H, Mazaheri, N, Sisodiya, SM, Harrison, V, Sun, A, Thies, J, Pedroza, LA, Lara-Taranchenko, Y, Chinn, IK, Lupski, JR, Garza-Flores, A, McGlothlin, J, Yang, L, Huang, S, Wang, X, Jewett, T, Rosso, G, Lin, X, Mohammed, S, Merritt, JL, Mirzaa, GM, Timms, AE, Scheck, J, Elting, MW, Polstra, AM, Schenck, L, Ruzhnikov, MRZ, Vetro, A, Montomoli, M, Guerrini, R, Koboldt, DC, Mosher, TM, Pastore, MT, McBride, KL, Peng, J, Pan, Z, Willemsen, M, Koning, S, Turnpenny, PD, de Vries, BBA, Gilissen, C, Pfundt, R, Lees, M, Braddock, SR, Klemp, KC, Vansenne, F, van Gijn, ME, Quindipan, C, Deardorff, MA, Hamm, JA, Putnam, AM, Baud, R, Walsh, L, Lynch, SA, Baptista, J, Person, RE, Monaghan, KG, Crunk, A, Keller-Ramey, J, Reich, A, Elloumi, HZ, Alders, M, Kerkhof, J, McConkey, H, Haghshenas, S, Genomics England Research Consortium, Maroofian, R, Sadikovic, B, Banka, S, Arold, ST, Barakat, TS

وصف الملف: application/pdf; application/vnd.ms-excel

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114578/1/1-s2.0-S1098360021051728-main.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114578/6/1-s2.0-S1098360021051728-mmc1.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114578/11/1-s2.0-S1098360021051728-mmc2.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/114578/12/1-s2.0-S1098360021051728-mmc3.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114578/17/1-s2.0-S1098360021051728-mmc4.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/114578/18/1-s2.0-S1098360021051728-mmc5.xlsxTest; Weerts, MJA; Lanko, K; Guzmán-Vega, FJ; Jackson, A; Ramakrishnan, R; Cardona-Londoño, KJ; Peña-Guerra, KA; van Bever, Y; van Paassen, BW; Kievit, A; et al. Weerts, MJA; Lanko, K; Guzmán-Vega, FJ; Jackson, A; Ramakrishnan, R; Cardona-Londoño, KJ; Peña-Guerra, KA; van Bever, Y; van Paassen, BW; Kievit, A; van Slegtenhorst, M; Allen, NM; Kehoe, CM; Robinson, HK; Pang, L; Banu, SH; Zaman, M; Efthymiou, S; Houlden, H; Järvelä, I; Lauronen, L; Määttä, T; Schrauwen, I; Leal, SM; Ruivenkamp, CAL; Barge-Schaapveld, DQCM; Peeters-Scholte, CMPCD; Galehdari, H; Mazaheri, N; Sisodiya, SM; Harrison, V; Sun, A; Thies, J; Pedroza, LA; Lara-Taranchenko, Y; Chinn, IK; Lupski, JR; Garza-Flores, A; McGlothlin, J; Yang, L; Huang, S; Wang, X; Jewett, T; Rosso, G; Lin, X; Mohammed, S; Merritt, JL; Mirzaa, GM; Timms, AE; Scheck, J; Elting, MW; Polstra, AM; Schenck, L; Ruzhnikov, MRZ; Vetro, A; Montomoli, M; Guerrini, R; Koboldt, DC; Mosher, TM; Pastore, MT; McBride, KL; Peng, J; Pan, Z; Willemsen, M; Koning, S; Turnpenny, PD; de Vries, BBA; Gilissen, C; Pfundt, R; Lees, M; Braddock, SR; Klemp, KC; Vansenne, F; van Gijn, ME; Quindipan, C; Deardorff, MA; Hamm, JA; Putnam, AM; Baud, R; Walsh, L; Lynch, SA; Baptista, J; Person, RE; Monaghan, KG; Crunk, A; Keller-Ramey, J; Reich, A; Elloumi, HZ; Alders, M; Kerkhof, J; McConkey, H; Haghshenas, S; Genomics England Research Consortium; Maroofian, R; Sadikovic, B; Banka, S; Arold, ST; Barakat, TS (2021) Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med, 23 (11). pp. 2122-2137. ISSN 1530-0366 https://doi.org/10.1038/s41436-021-01246-2Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1038/s41436-021-01246-2Test
https://openaccess.sgul.ac.uk/id/eprint/114578Test/
https://openaccess.sgul.ac.uk/id/eprint/114578/1/1-s2.0-S1098360021051728-main.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114578/6/1-s2.0-S1098360021051728-mmc1.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114578/11/1-s2.0-S1098360021051728-mmc2.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/114578/12/1-s2.0-S1098360021051728-mmc3.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114578/17/1-s2.0-S1098360021051728-mmc4.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/114578/18/1-s2.0-S1098360021051728-mmc5.xlsxTest

المؤلفون: Bell, D, Berchuck, A, Birrer, M, Chien, J, Cramer, DW, Dao, F, Dhir, R, DiSaia, P, Gabra, H, Glenn, P, Godwin, AK, Gross, J, Hartmann, L, Huang, M, Huntsman, DG, Iacocca, M, Imielinski, M, Kalloger, S, Karlan, BY, Levine, DA, Mills, GB, Morrison, C, Mutch, D, Olvera, N, Orsulic, S, Park, K, Petrelli, N, Rabeno, B, Rader, JS, Sikic, BI, Smith-McCune, K, Sood, AK, Bowtell, D, Penny, R, Testa, JR, Chang, K, Creighton, CJ, Dinh, HH, Drummond, JA, Fowler, G, Gunaratne, P, Hawes, AC, Kovar, CL, Lewis, LR, Morgan, MB, Newsham, IF, Santibanez, J, Reid, JG, Trevino, LR, Wu, Y-Q, Wang, M, Muzny, DM, Wheeler, DA, Gibbs, RA, Getz, G, Lawrence, MS, Cibulskis, K, Sivachenko, AY, Sougnez, C, Voet, D, Wilkinson, J, Bloom, T, Ardlie, K, Fennell, T, Baldwin, J, Nichol, R, Fisher, S, Gabriel, S, Lander, ES, Ding, L, Fulton, RS, Koboldt, DC, McLellan, MD, Wylie, T, Walker, J, O’Laughlin, M, Dooling, DJ, Fulton, L, Abbott, R, Dees, ND, Zhang, Q, Kandoth, C, Wendl, M, Schierding, W, Shen, D, Harris, CC, Schmidt, H, Kalicki, J, Delehaunty, KD, Fronick, CC, Demeter, R, Cook, L, Wallis, JW, Lin, L, Magrini, VJ, Hodges, JS, Eldred, JM, Smith, SM, Pohl, CS, Vandin, F

المصدر: Nature. 474(7353)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Biotechnology, Rare Diseases, Human Genome, Ovarian Cancer, Cancer, Aged, Carcinoma, DNA Methylation, Female, Gene Dosage, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Genomics, Humans, MicroRNAs, Middle Aged, Mutation, Ovarian Neoplasms, RNA, Messenger, Cancer Genome Atlas Research Network, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/44b1h9tbTest

المؤلفون: Altshuler, DM, Durbin, RM, Abecasis, GR, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, Marth, GT, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Boerwinkle, E, Doddapaneni, H, Han, Y, Korchina, V, Kovar, C, Lee, S, Muzny, D, Reid, JG, Zhu, Y, Chang, Y, Feng, Q, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Lan, T, Li, G, Li, J, Li, Y, Liu, S, Liu, X, Lu, Y, Ma, X, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Xu, X, Yin, Y, Zhang, D, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Gupta, N, Gharani, N, Toji, LH, Gerry, NP, Resch, AM, Barker, J, Clarke, L, Gil, L, Hunt, SE, Kelman, G, Kulesha, E, Leinonen, R, McLaren, WM, Radhakrishnan, R, Roa, A, Smirnov, D, Smith, RE, Streeter, I, Thormann, A, Toneva, I, Vaughan, B, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, M-L, Fulton, L, Fulton, R, Ananiev, V, Belaia, Z, Beloslyudtsev, D, Bouk, N, Chen, C, Church, D, Cohen, R, Cook, C, Garner, J, Hefferon, T, Kimelman, M, Liu, C, Lopez, J, Meric, P, O'Sullivan, C, Ostapchuk, Y, Phan, L, Ponomarov, S, Schneider, V, Shekhtman, E, Sirotkin, K, Slotta, D, Zhang, H, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S, Stalker, J, Quail, M, Davies, CJ, Gollub, J, Webster, T, Wong, B, Zhan, Y, Auton, A, Campbell, CL, Kong, Y, Marcketta, A, Yu, F, Antunes, L, Bainbridge, M, Sabo, A, Huang, Z, Coin, LJM, Fang, L, Li, Q, Li, Z, Lin, H, Liu, B, Luo, R, Shao, H, Xie, Y, Ye, C, Yu, C, Zhang, F, Zheng, H, Zhu, H, Alkan, C, Dal, E, Kahveci, F, Garrison, EP, Kural, D, Lee, W-P, Leong, WF, Stromberg, M, Ward, AN, Wu, J, Zhang, M, Daly, MJ, DePristo, MA, Handsaker, RE, Banks, E, Bhatia, G, del Angel, G, Genovese, G, Li, H, Kashin, S, McCarroll, SA, Nemesh, JC, Poplin, RE, Yoon, SC, Lihm, J, Makarov, V, Gottipati, S, Keinan, A, Rodriguez-Flores, JL, Rausch, T, Fritz, MH, Stuetz, AM, Beal, K, Datta, A, Herrero, J, Ritchie, GRS, Zerbino, D, Sabeti, PC, Shlyakhter, I, Schaffner, SF, Vitti, J, Cooper, DN, Ball, EV, Stenson, PD, Barnes, B, Bauer, M, Cheetham, RK, Cox, A, Eberle, M, Kahn, S, Murray, L, Peden, J, Shaw, R, Kenny, EE, Batzer, MA, Konkel, MK, Walker, JA, MacArthur, DG, Lek, M, Herwig, R, Ding, L, Koboldt, DC, Larson, D, Ye, K, Gravel, S, Swaroop, A, Chew, E, Lappalainen, T, Erlich, Y, Gymrek, M, Willems, TF, Simpson, JT, Shriver, MD, Rosenfeld, JA, Bustamante, CD, Montgomery, SB, De La Vega, FM, Byrnes, JK, Carroll, AW, DeGorter, MK, Lacroute, P, Maples, BK, Martin, AR, Moreno-Estrada, A, Shringarpure, SS, Zakharia, F, Halperin, E, Baran, Y, Cerveira, E, Hwang, J, Malhotra, A, Plewczynski, D, Radew, K, Romanovitch, M, Zhang, C, Hyland, FCL, Craig, DW, Christoforides, A, Homer, N, Izatt, T, Kurdoglu, AA, Sinari, SA, Squire, K, Xiao, C, Sebat, J, Antaki, D, Gujral, M, Noor, A, Burchard, EG, Hernandez, RD, Gignoux, CR, Haussler, D, Katzman, SJ, Kent, WJ, Howie, B, Ruiz-Linares, A, Dermitzakis, ET, Devine, SE, Goncalo, RA, Kang, HM, Kidd, JM, Blackwell, T, Caron, S, Chen, W, Emery, S, Fritsche, L, Fuchsberger, C, Jun, G, Li, B, Lyons, R, Scheller, C, Sidore, C, Song, S, Sliwerska, E, Taliun, D, Tan, A, Welch, R, Wing, MK, Zhan, X, Awadalla, P, Hodgkinson, A, Shi, X, Quitadamo, A, Lunter, G, Marchini, JL, Myers, S, Churchhouse, C, Delaneau, O, Gupta-Hinch, A, Kretzschmar, W, Iqbal, Z, Mathieson, I, Menelaou, A, Rimmer, A, Xifara, DK, Oleksyk, TK, Fu, Y, Xiong, M, Jorde, L, Witherspoon, D, Xing, J, Browning, BL, Browning, SR, Hormozdiari, F, Sudmant, PH, Khurana, E, Tyler-Smith, C, Albers, CA, Ayub, Q, Chen, Y, Colonna, V, Jostins, L, Walter, K, Xue, Y, Gerstein, MB, Abyzov, A, Balasubramanian, S, Chen, J, Clarke, D, Harmanci, AO, Jin, M, Lee, D, Liu, J, Mu, XJ, Zhang, J, Zhang, Y, Del Angel, G, Hartl, C, Shakir, K, Degenhardt, J, Meiers, S, Raeder, B, Casale, FP, Stegle, O, Lameijer, E-W, Hall, I, Bafna, V, Michaelson, J, Gardner, EJ, Mills, RE, Dayama, G, Chen, K, Fan, X, Chong, Z, Chen, T, Chaisson, MJ, Huddleston, J, Malig, M, Nelson, BJ, Parrish, NF, Blackburne, B, Lindsay, SJ, Ning, Z, Lam, H, Sisu, C, Challis, D, Evani, US, Lu, J, Nagaswamy, U, Yu, J, Li, W, Habegger, L, Yu, H, Cunningham, F, Dunham, I, Lage, K, Jespersen, JB, Horn, H, Kim, D, Desalle, R, Narechania, A, Sayres, MAW, Mendez, FL, Poznik, GD, Underhill, PA, Coin, L, Mittelman, D, Banerjee, R, Cerezo, M, Fitzgerald, T, Louzada, S, Massaia, A, Ritchie, GR, Yang, F, Kalra, D, Hale, W, Dan, X, Barnes, KC, Beiswanger, C, Cai, H, Cao, H, Henn, B, Jones, D, Kaye, JS, Kent, A, Kerasidou, A, Mathias, R, Ossorio, PN, Parker, M, Rotimi, CN, Royal, CD, Sandoval, K, Su, Y, Tian, Z, Tishkoff, S, Via, M, Wang, Y, Yang, H, Yang, L, Zhu, J, Bodmer, W, Bedoya, G, Cai, Z, Gao, Y, Chu, J, Peltonen, L, Garcia-Montero, A, Orfao, A, Dutil, J, Martinez-Cruzado, JC, Mathias, RA, Hennis, A, Watson, H, McKenzie, C, Qadri, F, LaRocque, R, Deng, X, Asogun, D, Folarin, O, Happi, C, Omoniwa, O, Stremlau, M, Tariyal, R, Jallow, M, Joof, FS, Corrah, T, Rockett, K, Kwiatkowski, D, Kooner, J, Tran, TH, Dunstan, SJ, Nguyen, TH, Fonnie, R, Garry, R, Kanneh, L, Moses, L, Schieffelin, J, Grant, DS, Gallo, C, Poletti, G, Saleheen, D, Rasheed, A, Brook, LD, Felsenfeld, A, McEwen, JE, Vaydylevich, Y, Duncanson, A, Dunn, M, Schloss, JA, Brooks, LD

العلاقة: pii: nature15393; Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., Clark, A. G., Donnelly, P., Eichler, E. E., Flicek, P., Gabriel, S. B., Gibbs, R. A., Green, E. D., Hurles, M. E., Knoppers, B. M., Korbel, J. O., Lander, E. S., Lee, C., Lehrach, H., Mardis, E. R. ,. Abecasis, G. R. (2015). A global reference for human genetic variation. NATURE, 526 (7571), pp.68-+. https://doi.org/10.1038/nature15393Test.; http://hdl.handle.net/11343/261691Test

الإتاحة: https://doi.org/10.1038/nature15393Test
http://hdl.handle.net/11343/261691Test

المؤلفون: Service, SK, Teslovich, TM, Fuchsberger, C, Ramensky, V, Yajnik, P, Koboldt, DC, Larson, DE, Zhang, Q, Lin, L, Welch, R, Ding, L, McLellan, MD, O'Laughlin, M, Fronick, C, Fulton, LL, Magrini, V, Swift, A, Elliott, P, Jarvelin, M-R, Kaakinen, M, McCarthy, MI, Peltonen, L, Pouta, A, Bonnycastle, LL, Collins, FS, Narisu, N, Stringham, HM, Tuomilehto, J, Ripatti, S, Fulton, RS, Sabatti, C, Wilson, RK, Boehnke, M, Freimer, NB

المساهمون: Medical Research Council (MRC)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, GENOME-WIDE ASSOCIATION, FOUNDER POPULATION, HDL CHOLESTEROL, RARE, DISEASE, GENETICS, CONTRIBUTES, GLUCOSE, TRAITS, EXOMES, Cholesterol, HDL, European Continental Ancestry Group, Finland, Genome-Wide Association Study, Genotype, High-Throughput Nucleotide Sequencing, Humans, Linkage Disequilibrium, Phenotype, Population Groups, Quantitative Trait Loci

العلاقة: PLOS Genetics; http://hdl.handle.net/10044/1/28710Test; https://dx.doi.org/10.1371/journal.pgen.1004147Test; G0801056/1

الإتاحة: https://doi.org/10.1371/journal.pgen.1004147Test
http://hdl.handle.net/10044/1/28710Test

المؤلفون: Altshuler, DM, Durbin, RM, Abecasis, GR, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, Marth, GT, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Dinh, H, Kovar, C, Lee, S, Lewis, L, Muzny, D, Reid, J, Wang, M, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Li, G, Li, J, Li, Y, Li, Z, Liu, X, Lu, Y, Ma, X, Su, Z, Tai, S, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Yin, Y, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Zhou, Y, Gupta, N, Clarke, L, Leinonen, R, Smith, RE, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, M-L, Fulton, L, Fulton, R, Weinstock, GM, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S, Stalker, J, Quail, M, Davies, CJ, Gollub, J, Webster, T, Wong, B, Zhan, Y, Auton, A, Yu, F, Bainbridge, M, Challis, D, Evani, US, Lu, J, Nagaswamy, U, Sabo, A, Wang, Y, Yu, J, Coin, LJM, Fang, L, Li, Q, Lin, H, Liu, B, Luo, R, Qin, N, Shao, H, Xie, Y, Ye, C, Yu, C, Zhang, F, Zheng, H, Zhu, H, Garrison, EP, Kural, D, Lee, W-P, Leong, WF, Ward, AN, Wu, J, Zhang, M, Griffin, L, Hsieh, C-H, Mills, RE, Shi, X, Von Grotthuss, M, Zhang, C, Daly, MJ, DePristo, MA, Banks, E, Bhatia, G, Carneiro, MO, Del Angel, G, Genovese, G, Handsaker, RE, Hartl, C, McCarroll, SA, Nemesh, JC, Poplin, RE, Schaffner, SF, Shakir, K, Yoon, SC, Lihm, J, Makarov, V, Jin, H, Kim, W, Kim, KC, Rausch, T, Beal, K, Cunningham, F, Herrero, J, McLaren, WM, Ritchie, GRS, Gottipati, S, Keinan, A, Rodriguez-Flores, JL, Sabeti, PC, Grossman, SR, Tabrizi, S, Tariyal, R, Cooper, DN, Ball, EV, Stenson, PD, Barnes, B, Bauer, M, Cheetham, RK, Cox, T, Eberle, M, Kahn, S, Murray, L, Peden, J, Shaw, R, Ye, K, Batzer, MA, Konkel, MK, Walker, JA, MacArthur, DG, Lek, M, Herwig, R, Shriver, MD, Bustamante, CD, Byrnes, JK, De la Vega, FM, Gravel, S, Kenny, EE, Kidd, JM, Lacroute, P, Maples, BK, Moreno-Estrada, A, Zakharia, F, Halperin, E, Baran, Y, Craig, DW, Christoforides, A, Homer, N, Izatt, T, Kurdoglu, AA, Sinari, SA, Squire, K, Xiao, C, Sebat, J, Bafna, V, Burchard, EG, Hernandez, RD, Gignoux, CR, Haussler, D, Katzman, SJ, Kent, WJ, Howie, B, Ruiz-Linares, A, Dermitzakis, ET, Lappalainen, T, Devine, SE, Maroo, A, Tallon, LJ, Rosenfeld, JA, Michelson, LP, Kang, HM, Anderson, P, Angius, A, Bigham, A, Blackwell, T, Busonero, F, Cucca, F, Fuchsberger, C, Jones, C, Jun, G, Lyons, R, Maschio, A, Porcu, E, Reinier, F, Sanna, S, Schlessinger, D, Sidore, C, Tan, A, Trost, MK, Awadalla, P, Hodgkinson, A, Lunter, G, Marchini, JL, Myers, S, Churchhouse, C, Delaneau, O, Gupta-Hinch, A, Iqbal, Z, Mathieson, I, Rimmer, A, Xifara, DK, Oleksyk, TK, Fu, Y, Xiong, M, Jorde, L, Witherspoon, D, Xing, J, Browning, BL, Alkan, C, Hajirasouliha, I, Hormozdiari, F, Ko, A, Sudmant, PH, Chen, K, Chinwalla, A, Ding, L, Dooling, D, Koboldt, DC, McLellan, MD, Wallis, JW, Wendl, MC, Zhang, Q, Tyler-Smith, C, Albers, CA, Ayub, Q, Chen, Y, Coffey, AJ, Colonna, V, Huang, N, Jostins, L, Li, H, Scally, A, Walter, K, Xue, Y, Zhang, Y, Gerstein, MB, Abyzov, A, Balasubramanian, S, Chen, J, Clarke, D, Habegger, L, Harmanci, AO, Jin, M, Khurana, E, Mu, XJ, Sisu, C, Degenhardt, J, Stuetz, AM, Church, D, Michaelson, JJ, Ben, B, Lindsay, SJ, Ning, Z, Frankish, A, Harrow, J, Fowler, G, Hale, W, Kalra, D, Barker, J, Kelman, G, Kulesha, E, Radhakrishnan, R, Roa, A, Smirnov, D, Streeter, I, Toneva, I, Vaughan, B, Ananiev, V, Belaia, Z, Beloslyudtsev, D, Bouk, N, Chen, C, Cohen, R, Cook, C, Garner, J, Hefferon, T, Kimelman, M, Liu, C, Lopez, J, Meric, P, O'Sullivan, C, Ostapchuk, Y, Phan, L, Ponomarov, S, Schneider, V, Shekhtman, E, Sirotkin, K, Slotta, D, Zhang, H, Barnes, KC, Beiswanger, C, Cai, H, Cao, H, Gharani, N, Henn, B, Jones, D, Kaye, JS, Kent, A, Kerasidou, A, Mathias, R, Ossorio, PN, Parker, M, Reich, D, Rotimi, CN, Royal, CD, Sandoval, K, Su, Y, Tian, Z, Tishkoff, S, Toji, LH, Via, M, Yang, H, Yang, L, Zhu, J, Bodmer, W, Bedoya, G, Ming, CZ, Yang, G, You, CJ, Peltonen, L, Garcia-Montero, A, Orfao, A, Dutil, J, Martinez-Cruzado, JC, Brooks, LD, Felsenfeld, AL, McEwen, JE, Clemm, NC, Duncanson, A, Dunn, M, Guyer, MS, Peterson, JL

المصدر: 65 ; 56

مصطلحات موضوعية: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, COPY NUMBER VARIATION, WIDE ASSOCIATION, POPULATION-STRUCTURE, RARE, VARIANTS, LOCI, MUTATION, RISK, Alleles, Binding Sites, Conserved Sequence, Evolution, Molecular, Genetic Variation, Genetics, Medical, Population, Genome, Human, Genome-Wide Association Study, Genomics, Haplotypes, Humans, Nucleotide Motifs, Polymorphism, Single Nucleotide, Racial Groups

العلاقة: Nature; http://hdl.handle.net/10044/1/96192Test

الإتاحة: https://doi.org/10.1038/nature11632Test
http://hdl.handle.net/10044/1/96192Test

المؤلفون: Frints, SGM, Ozanturk, A, Criado, GR, Grasshoff, U, Hoon, Bas, Field, M, Manouvrier-Hanu, S, Hickey, SE, Kammoun, M, Gripp, KW, Bauer, C, Schroeder, C, Toutain, A, Mosher, TM, Kelly, BJ, White, P, Dufke, A, Rentmeester, Eveline, Moon, S, Koboldt, DC, van Roozendaal, KE, Hu, H, Haas, S A, Ropers, HH, Murray, L, Haan, E, Shaw, M, Carroll, R, Friend, K, Liebelt, J, Hobson, L, De Rademaeker, M, Geraedts, J, Fryns, JP, Vermeesch, J, Raynaud, M, Riess, O, Gribnau, Joost, Katsanis, N, DeVriendt, K, Bauer, P, Gecz, J, Golzio, C, Gontan, C, Kalscheuer, V M

المصدر: Frints , SGM , Ozanturk , A , Criado , GR , Grasshoff , U , Hoon , B , Field , M , Manouvrier-Hanu , S , Hickey , SE , Kammoun , M , Gripp , KW , Bauer , C , Schroeder , C , Toutain , A , Mosher , TM , Kelly , BJ , White , P , Dufke , A , Rentmeester , E , Moon , S , Koboldt , DC , van Roozendaal , KE , Hu , H , Haas , S A , Ropers , HH , Murray ....

الإتاحة: https://doi.org/10.1038/s41380-018-0065-xTest
https://pure.eur.nl/en/publications/0edd9c1f-6bda-4555-9d4e-0d9c12b36c79Test
http://hdl.handle.net/1765/106240Test

المؤلفون: Naj, AC, Lin, HH, Vardarajan, BN, White, S, Lancour, D, Ma, YY, Schmidt, M, Sun, FG, Butkiewicz, M, Bush, WS, Kunkle, BW, Malamon, J, Amin, Najaf, Choi, SH, Hamilton-Nelson, KL, van der Lee, Sven, Gupta, N, Koboldt, DC, Saad, M, Wang, BW, Nato, AQ, Sohi, HK, Kuzma, A, Wang, LS (Li-San), Cupples, LA, Duijn, Cornelia, Seshadri, S, Schellenberg, GD, Boerwinkle, E, Bis, JC, Dupuis, J, Salerno, WJ, Wijsman, EM, Martin, ER, DeStefano, AL

المصدر: Naj , AC , Lin , HH , Vardarajan , BN , White , S , Lancour , D , Ma , YY , Schmidt , M , Sun , FG , Butkiewicz , M , Bush , WS , Kunkle , BW , Malamon , J , Amin , N , Choi , SH , Hamilton-Nelson , KL , van der Lee , S , Gupta , N , Koboldt , DC , Saad , M , Wang , BW , Nato , AQ , Sohi , HK , Kuzma , A , Wang , LS , Cupples ....

الإتاحة: https://doi.org/10.1016/j.ygeno.2018.05.004Test
https://pure.eur.nl/en/publications/e4183275-eee3-4975-a6cf-7d25929a4d3aTest
http://hdl.handle.net/1765/109179Test

المؤلفون: Locke, AE, Steinberg, KM, Chiang, CWK, Service, SK, Havulinna, AS, Stell, L, Pirinen, M, Abel, HJ, Chiang, CC, Fulton, RS, Jackson, AU, Kang, CJ, Kanchi, KL, Koboldt, DC, Larson, DE, Nelson, J, Nicholas, TJ, Pietila, A, Ramensky, V, Ray, D, Scott, LJ, Stringham, HM, Vangipurapu, J, Welch, R, Yajnik, P, Yin, X, Eriksson, JG, Ala-Korpela, M, Jarvelin, M-R, Mannikko, M, Laivuori, H, Dutcher, SK, Stitziel, NO, Wilson, RK, Hall, IM, Sabatti, C, Palotie, A, Salomaa, V, Laakso, M, Ripatti, S, Boehnke, M, Freimer, NB

المساهمون: UNIVERSITY OF OULU

المصدر: 328 ; 323

مصطلحات موضوعية: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, GENOME-WIDE ASSOCIATION, LOW-FREQUENCY, MISSING HERITABILITY, CARDIOVASCULAR RISK, BLOOD-PRESSURE, DISEASE, TRAITS, CHOLESTEROL, POPULATION, PREDICTION, Alleles, HDL, Cluster Analysis, Endpoint Determination, Finland, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Geographic Mapping, Humans, Multifactorial Inheritance, Quantitative Trait Loci, Reproducibility of Results, Whole Exome Sequencing, FinnGen Project

العلاقة: Nature; http://hdl.handle.net/10044/1/85674Test; Nil

الإتاحة: https://doi.org/10.1038/s41586-019-1457-zTest
http://hdl.handle.net/10044/1/85674Test