학술논문

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학술논문
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'학술논문' 에서의 검색결과 256건 | 목록 1~10

  • 7 . Academic Journal
    Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
    저자
    by Epi25 Collaborative; Feng YA; Howrigan DP; Abbott LE; Tashman K, et al. 
    소스
    American journal of human genetics (Online) 105 (2019): 267–282. doi:10.1016/j.ajhg.2019.05.020
    info:cnr-pdr/source/autori:Feng Y.-C.A.; Howrigan D.P.; Abbott L.E.; Tashman K.; Cerrato F.; Singh T.; Heyne H.; Byrnes A.; Churchhouse C.; Watts N.; Solomonson M.; Lal D.; Heinzen E.L.; Dhindsa R.S.; Stanley K.E.; Cavalleri G.L.; Hakonarson H.; Helbig I.; Krause R.; May P.; Weckhuysen S.; Petrovski S.; Kamalakaran S.; Sisodiya S.M.; Cossette P.; Cotsapas C.; De Jonghe P.; Dixon-Salazar T.; Guerrini R.; Kwan P.; Marson A.G.; Stewart R.; Depondt C.; Dlugos D.J.; Scheffer I.E.; Striano P.; Freyer C.; McKenna K.; Regan B.M.; Bellows S.T.; Leu C.; Bennett C.A.; Johns E.M.C.; Macdonald A.; Shilling H.; Burgess R.; Weckhuysen D.; Bahlo M.; O'Brien T.J.; Todaro M.; Stamberger H.; Andrade D.M.; Sadoway T.R.; Mo K.; Krestel H.; Gallati S.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Sterbova K.; Vlckova M.; Sedlackova L.; Lassuthova P.; Klein K.M.; Rosenow F.; Reif P.S.; Knake S.; Kunz W.S.; Zsurka G.; Elger C.E.; Bauer J.; Rademacher M.; Pendziwiat M.; Muhle H.; Rademacher A.; van Baalen A.; von Spiczak S.; Stephani U.; Afawi Z.; Korczyn A.D.; Kanaan M.; Canavati C.; Kurlemann G.; Muller-Schluter K.; Kluger G.; Hausler M.; Blatt I.; Lemke J.R.; Krey I.; Weber Y.G.; Wolking S.; Becker F.; Hengsbach C.; Rau S.; Maisch A.F.; Steinhoff B.J.; Schulze-Bonhage A.; Schubert-Bast S.; Schreiber H.; Borggrafe I.; Schankin C.J.; Mayer T.; Korinthenberg R.; Brockmann K.; Dennig D.; Madeleyn R.; Kalviainen R.; Auvinen P.; Saarela A.; Linnankivi T.; Lehesjoki A.-E.; Rees M.I.; Chung S.-K.; Pickrell W.O.; Powell R.; Schneider N.; Balestrini S.; Zagaglia S.; Braatz V.; Johnson M.R.; Auce P.; Sills G.J.; Baum L.W.; Sham P.C.; Cherny S.S.; Lui C.H.T.; Barisic N.; Delanty N.; Doherty C.P.; Shukralla A.; McCormack M.; El-Naggar H.; Canafoglia L.; Franceschetti S.; Castellotti B.; Granata T.; Zara F.; Iacomino M.; Madia F.; Vari M.S.; Mancardi M.M.; Salpietro V.; Bisulli F.; Tinuper P.; Licchetta L.; Pippucci T.; Stipa C.; Minardi R.; Gambardella A.; Labate A.; Annesi G.; Manna L.; Gagliardi M.; Parrini E.; Mei D.; Vetro A.; Bianchini C.; Montomoli M.; Doccini V.; Marini C.; Suzuki T.; Inoue Y.; Yamakawa K.; Tumiene B.; Sadleir L.G.; King C.; Mountier E.; Caglayan S.H.; Arslan M.; Yapici Z.; Yis U.; Topaloglu P.; Kara B.; Turkdogan D.; Gundogdu-Eken A.; Bebek N.; Ugur-Iseri S.; Baykan B.; Salman B.; Haryanyan G.; Yucesan E.; Kesim Y.; Ozkara C.; Poduri A.; Shiedley B.R.; Shain C.; Buono R.J.; Ferraro T.N.; Sperling M.R.; Lo W.; Privitera M.; French J.A.; Schachter S.; Kuzniecky R.I.; Devinsky O.; Hegde M.; Khankhanian P.; Helbig K.L.; Ellis C.A.; Spalletta G.; Piras F.; Piras F.; Gili T.; Ciullo V.; Reif A.; McQuillin A.; Bass N.; McIntosh A.; Blackwood D.; Johnstone M.; Palotie A.; Pato M.T.; Pato C.N.; Bromet E.J.; Carvalho C.B.; Achtyes E.D.; Azevedo M.H.; Kotov R.; Lehrer D.S.; Malaspina D.; Marder S.R.; Medeiros H.; Morley C.P.; Perkins D.O.; Sobell J.L.; Buckley P.F.; Macciardi F.; Rapaport M.H.; Knowles J.A.; Fanous A.H.; McCarroll S.A.; Gupta N.; Gabriel S.B.; Daly M.J.; Lander E.S.; Lowenstein D.H.; Goldstein D.B.; Lerche H.; Berkovic S.F.; Neale B.M./titolo:Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals/doi:10.1016%2Fj.ajhg.2019.05.020/rivista:American journal of human genetics (Online)/anno:2019/pagina_da:267/pagina_a:282/intervallo_pagine:267–282/volume:105
    The American Journal of Human Genetics
  • 7 . Academic Journal
    Skewed X-inactivation is common in the general female population
    저자
    by Shvetsova, E; Sofronova, A; Monajemi, R; Gagalova, K; Draisma, HHM, et al. 
    소스
    Eur J Hum Genet
    Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, H H M, White, S J, Santen, G W E, Chuva de Sousa Lopes, S M, Heijmans, B T, van Meurs, J, Jansen, R, Franke, L, Kiełbasa, S M, den Dunnen, J T, ‘t Hoen, P A C & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3
    European Journal of Human Genetics, 27, 3, pp. 455-465
  • 7 . Academic Journal
    Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases
    저자
    by Gusev, A; Lee, Sh; SWE SCZ, Consortium; O'Dushlaine, Cgusev; Trynka, G, et al. 
    소스
    The American Journal of Human Genetics
    Gusev, A, Trynka, G, Finucane, H, Vilhjálmsson, B J, Xu, H, Zang, C, Stahl, E, Daly, M, Pasaniuc, B, Raychaudhuri, S, Ripke, S, Neale, B M, Corvin, A, Walters, J T R, Farh, K-H, Holmans, P A, Lee, P, Bulik-Sullivan, B, Collier, D A, Huang, H, Pers, T H, Agartz, I, Agerbo, E, Albus, M, Alexander, M, Amin, F, Bacanu, S A, Begemann, M, Belliveau, R A, Bene, J, Bevilacqua, E, Bigdeli, T B, Black, D W, Børglum, A D, Bruggeman, R, Buccola, N G, Buckner, R L, Byerley, W, Cahn, W, Cai, G, Campion, D, Cantor, R M, Carr, V J, Carrera, N, Catts, S V, Chan, R C K, Chen, R Y L, Chen, E Y H, Cheng, W, Cheung, E F C, Chong, S A, Cloninger, C R, Cohen, D, Cohen, N, Cormican, P, Craddock, N, Crowley, J J, Curtis, D, Davidson, M, Davis, K L, Degenhardt, F, Del Favero, J, DeLisi, L E, Demontis, D, Dikeos, D, Dinan, T, Djurovic, S, Donohoe, G, Drapeau, E, Duan, J, Dudbridge, F, Durmishi, N, Eichhammer, P, Eriksson, J, Escott-Price, V, Essioux, L, Fanous, A H, Farrell, M S, Frank, J, Franke, L, Freedman, R, Freimer, N B, Friedl, M, Friedman, J I, Fromer, M, Genovese, G, Georgieva, L, Gershon, E S, Giegling, I, Giusti-Rodrguez, P, Godard, S, Goldstein, J I, Golimbet, V, Gopal, S, Gratten, J, Grove, J, de Haan, L, Hammer, C, Hamshere, M L, Hansen, M, Hansen, T, Haroutunian, V, Hartmann, A M, Henskens, F A, Herms, S, Hirschhorn, J N, Hoffmann, P, Hofman, A, Hollegaard, M V, Hougaard, D M, Ikeda, M, Joa, I, Julià, A, Kahn, R S, Kalaydjieva, L, Karachanak-Yankova, S, Karjalainen, J, Kavanagh, D, Keller, M C, Kelly, B J, Kennedy, J L, Khrunin, A, Kim, Y, Klovins, J, Knowles, J A, Konte, B, Kucinskas, V, Kucinskiene, Z A, Kuzelova-Ptackova, H, Kähler, A K, Laurent, C, Keong, J L C, Lee, S H, Legge, S E, Lerer, B, Li, M, Li, T, Liang, K-Y, Lieberman, J, Limborska, S, Loughland, C M, Lubinski, J, Lnnqvist, J, Macek, M, Magnusson, P K E, Maher, B S, Maier, W, Mallet, J, Marsal, S, Mattheisen, M, Mattingsdal, M, McCarley, R W, McDonald, C, McIntosh, A M, Meier, S, Meijer, C J, Melegh, B, Melle, I, Mesholam-Gately, R I, Metspalu, A, Michie, P T, Milani, L, Milanova, V, Mokrab, Y, Morris, D W, Mors, O, Mortensen, P B, Murphy, K C, Murray, R M, Myin-Germeys, I, Mller-Myhsok, B, Nelis, M, Nenadic, I, Nertney, D A, Nestadt, G, Nicodemus, K K, Nikitina-Zake, L, Nisenbaum, L, Nordin, A, O'Callaghan, E, O'Dushlaine, C, O'Neill, F A, Oh, S-Y, Olincy, A, Olsen, L, Van Os, J, Pantelis, C, Papadimitriou, G N, Papiol, S, Parkhomenko, E, Pato, M T, Paunio, T, Pejovic-Milovancevic, M, Perkins, D O, Pietilinen, O, Pimm, J, Pocklington, A J, Powell, J, Price, A, Pulver, A E, Quested, D, Rasmussen, H B, Reichenberg, A, Reimers, M A, Richards, A L, Roffman, J L, Roussos, P, Salomaa, V, Sanders, A R, Schall, U, Schubert, C R, Schulze, T G, Schwab, S G, Scott, R J, Seidman, L J, Shi, J, Sigurdsson, E, Silagadze, T, Silverman, J M, Sim, K, Slominsky, P, Smoller, J W, So, H-C, Spencer, C C A, Stahl, E A, Stefansson, H, Steinberg, S, Stogmann, E, Straub, R E, Strengman, E, Strohmaier, J, Stroup, T S, Subramaniam, M, Suvisaari, J, Svrakic, D M, Szatkiewicz, J P, Sderman, E, Thirumalai, S, Toncheva, D, Tooney, P A, Tosato, S, Veijola, J, Waddington, J, Walsh, D, Wang, D, Wang, Q, Webb, B T, Weiser, M, Wildenauer, D B, Williams, N M, Williams, S, Witt, S H, Wolen, A R, Wong, E H M, Wormley, B K, Wu, J Q, Xi, H S, Zai, C C, Zheng, X, Zimprich, F, Wray, N R, Stefansson, K, Visscher, P M, Adolfsson, R, Andreassen, O A, Blackwood, D H R, Bramon, E, Buxbaum, J D, Brglum, A D, Cichon, S, Darvasi, A, Domenici, E, Ehrenreich, H, Esko, T, Gejman, P V, Gill, M, Gurling, H, Hultman, C M, Iwata, N, Jablensky, A V, Jönsson, E G, Kendler, K S, Kirov, G, Knight, J, Lencz, T, Levinson, D F, Li, Q S, Liu, J, Malhotra, A K, McQuillin, A, Moran, J L, Mowry, B J, Nthen, M M, Ophoff, R A, Owen, M J, Palotie, A, Pato, C N, Petryshen, T L, Posthuma, D, Rietschel, M, Riley, B P, Rujescu, D, Sham, P C, Sklar, P, St Clair, D, Weinberger, D R, Wendland, J R, Werge, T, Daly, M J, Sullivan, P F, O'Donovan, M C, Chambert, K, Akterin, S, Bergen, S, Ruderfer, D, Scolnick, E, Purcell, S & McCarroll, S 2014, ' Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases. ', American Journal of Human Genetics, vol. 95, no. 5, pp. 535–552 . https://doi.org/10.1016/j.ajhg.2014.10.004
    Gusev, A, Lee, S H, Trynka, G, Finucane, H, Vilhjálmsson, B J, Xu, H, Zang, C, Ripke, S, Bulik-Sullivan, B, Stahl, E, Kähler, A K, Hultman, C M, Purcell, S M, McCarroll, S A, Daly, M, Pasaniuc, B, Sullivan, P F, Neale, B M, Wray, N R, Raychaudhuri, S, Price, A L & Schizophrenia Working Group of the Psychiatric Genomics Consortium (Manuel Mattheisen and Jakob Grove, members) 2014, ' Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases ', American Journal of Human Genetics, vol. 95, no. 5, pp. 535-52 . https://doi.org/10.1016/j.ajhg.2014.10.004
  • 7 . Academic Journal
    Defining the role of common variation in the genomic and biological architecture of adult human height
    저자
    by Wood, Andrew R; Esko, Tonu; Yang, Jian; Vedantam, Sailaja; Pers, Tune H, et al. 
    소스
    Nat Genet
    Wood, A R, Esko, T, Yang, J, Vedantam, S, Pers, T H, Gustafsson, S, Chu, A Y, Estrada, K, Luan, J, Kutalik, Z, Amin, N, Buchkovich, M L, Croteau-Chonka, D C, Day, F R, Duan, Y, Fall, T, Fehrmann, R S, Ferreira, T, Jackson, A U, Karjalainen, J, Lo, K S, Locke, A E, Mägi, R, Mihailov, E, Porcu, E, Randall, J C, Scherag, A, Vinkhuyzen, A A E, Westra, H J, Winkler, T W, Workalemahu, T, Zhao, J H, Absher, D, Albrecht, E, Anderson, D, Baron, J, Beekman, M, Demirkan, A, Ehret, G B, Feenstra, B, Feitosa, M F, Fischer, K, Fraser, R M, Goel, A, Gong, J, Justice, A E, Kanoni, S, Kleber, M E, Kristiansson, K, Lim, U, Helmer, Q, Boomsma, D I, Saleheen, D, Schlessinger, D, Slagboom, P E, Snieder, H, Spector, T D, Strauch, K, Stumvoll, M, Tuomilehto, J, Uusitupa, M, van der Harst, P, Völzke, H, Walker, M, Wareham, N J, Watkins, H, Wichmann, H E, Wilson, J F, Zanen, P, Deloukas, P, Heid, I M, Lindgren, C M, Mohlke, K L, Speliotes, E K, Thorsteinsdottir, U, Barroso, I, Fox, C S, North, K E, Strachan, D P, Beckmann, J S, Berndt, S I, Boehnke, M, Borecki, I B, McCarthy, M I, Metspalu, A, Smit, J H, Pilz, S, van Schoor, N M, Stefansson, K, Uitterlinden, A G, van Duijn, C M, Franke, L, Willer, C J, Price, A L, Lettre, G, Loos, R J F, Weedon, M N, Ingelsson, E, O'Connell, J R, Abecasis, G R, Chasman, D I, Goddard, M E, Visscher, P M, Hirschhorn, J N & Frayling, T M 2014, ' Defining the role of common variation in the genomic and biological architecture of adult human height ', Nature Genetics, vol. 46, no. 11, pp. 1173-1186 . https://doi.org/10.1038/ng.3097
    Nature Genetics, 46, 11, pp. 1173-86
    Nature Genetics, Vol. 46, No 11 (2014) pp. 1173-1186
    Nature genetics, vol. 46, no. 11 (2014) p. 1173-1186
    Nature Genetics, vol. 46, no. 11, pp. 1173-1186
    Nature Genetics, vol 46, iss 11
    Nature Genetics
    Nature genetics
  • 7 . Academic Journal
    Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
    저자
    by E. A. Stahl; D. Wegmann; G. Trynka; J. Gutierrez Achury; R. Do, et al. 
    소스
    Stahl, E A, Wegmann, D, Trynka, G, Gutierrez-Achury, J, Do, R, Voight, B F, Kraft, P, Chen, R, Kallberg, H J, Kurreeman, F A S, Kathiresan, S, Wijmenga, C, Gregersen, P K, Alfredsson, L, Siminovitch, K A, Worthington, J, De Bakker, P I W, Raychaudhuri, S & Plenge, R M 2012, ' Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis ', Nature Genetics, vol. 44, no. 5, pp. 483-489 . https://doi.org/10.1038/ng.2232
    Nature Genetics
  • 7 . Academic Journal
    LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
    저자
    by Bulik Sullivan, BK; Loh, P; Finucane, HK; Ripke, S; Yang, J, et al. 
    소스
    Nature Genetics, vol 47, iss 3
    Bulik-Sullivan, B K, Loh, P-R, Finucane, H K, Ripke, S, Yang, J, Patterson, N, Daly, M J, Price, A L, Neale, B M & Schizophrenia Working Group of the Psychiatric Genomics Consortium (Anders Børglum and Ole Mors, members of-) 2015, ' LD Score regression distinguishes confounding from polygenicity in genome-wide association studies ', Nature Genetics, vol. 47, no. 3, pp. 291–295 . https://doi.org/10.1038/ng.3211
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