المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736Test

المؤلفون: Hildebrand, MS, Tankard, R, Gazina, EV, Damiano, JA, Lawrence, KM, Dahl, H-HM, Regan, BM, Shearer, AE, Smith, RJH, Marini, C, Guerrini, R, Labate, A, Gambardella, A, Tinuper, P, Lichetta, L, Baldassari, S, Bisulli, F, Pippucci, T, Scheffer, IE, Reid, CA, Petrou, S, Bahlo, M, Berkovic, SF

العلاقة: NHMRC/466671; NHMRC/1063799; NHMRC/1006110; NHMRC/628952; Hildebrand, M. S., Tankard, R., Gazina, E. V., Damiano, J. A., Lawrence, K. M., Dahl, H. -H. M., Regan, B. M., Shearer, A. E., Smith, R. J. H., Marini, C., Guerrini, R., Labate, A., Gambardella, A., Tinuper, P., Lichetta, L., Baldassari, S., Bisulli, F., Pippucci, T., Scheffer, I. E. ,. Berkovic, S. F. (2015). PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2 (8), pp.821-830. https://doi.org/10.1002/acn3.224Test.; http://hdl.handle.net/11343/257711Test

الإتاحة: https://doi.org/10.1002/acn3.224Test
http://hdl.handle.net/11343/257711Test

المؤلفون: Azaiez, H, Decker, AR, Booth, KT, Simpson, AC, Shearer, AE, Huygen, PLM, Bu, F, Hildebrand, MS, Ranum, PT, Shibata, SB, Turner, A, Zhang, Y, Kimberling, WJ, Cornell, RA, Smith, RJH

المساهمون: Avraham, KB

العلاقة: pii: PGENETICS-D-15-00136; Azaiez, H., Decker, A. R., Booth, K. T., Simpson, A. C., Shearer, A. E., Huygen, P. L. M., Bu, F., Hildebrand, M. S., Ranum, P. T., Shibata, S. B., Turner, A., Zhang, Y., Kimberling, W. J., Cornell, R. A. & Smith, R. J. H. (2015). HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice. PLOS GENETICS, 11 (3), https://doi.org/10.1371/journal.pgen.1005137Test.; http://hdl.handle.net/11343/261273Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1005137Test
http://hdl.handle.net/11343/261273Test

المؤلفون: Shearer, AE, Hildebrand, MS, Smith, RJH

العلاقة: pii: 1472-6750-12-20; Shearer, A. E., Hildebrand, M. S. & Smith, R. J. H. (2012). Solution-based targeted genomic enrichment for precious DNA samples. BMC BIOTECHNOLOGY, 12 (1), https://doi.org/10.1186/1472-6750-12-20Test.; http://hdl.handle.net/11343/264469Test

الإتاحة: https://doi.org/10.1186/1472-6750-12-20Test
http://hdl.handle.net/11343/264469Test

المؤلفون: Shearer, AE, Hildebrand, MS, Ravi, H, Joshi, S, Guiffre, AC, Novak, B, Happe, S, LeProust, EM, Smith, RJH

العلاقة: NHMRC/546493; pii: 1471-2164-13-618; Shearer, A. E., Hildebrand, M. S., Ravi, H., Joshi, S., Guiffre, A. C., Novak, B., Happe, S., LeProust, E. M. & Smith, R. J. H. (2012). Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment. BMC GENOMICS, 13 (1), https://doi.org/10.1186/1471-2164-13-618Test.; http://hdl.handle.net/11343/191425Test

الإتاحة: https://doi.org/10.1186/1471-2164-13-618Test
http://hdl.handle.net/11343/191425Test

المؤلفون: Smith, KR, Bromhead, CJ, Hildebrand, MS, Shearer, AE, Lockhart, PJ, Najmabadi, H, Leventer, RJ, McGillivray, G, Amor, DJ, Smith, RJ, Bahlo, M

العلاقة: pii: gb-2011-12-9-r85; Smith, K. R., Bromhead, C. J., Hildebrand, M. S., Shearer, A. E., Lockhart, P. J., Najmabadi, H., Leventer, R. J., McGillivray, G., Amor, D. J., Smith, R. J. & Bahlo, M. (2011). Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes. GENOME BIOLOGY, 12 (9), https://doi.org/10.1186/gb-2011-12-9-r85Test.; http://hdl.handle.net/11343/264176Test

الإتاحة: https://doi.org/10.1186/gb-2011-12-9-r85Test
http://hdl.handle.net/11343/264176Test