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1دورية أكاديمية
المؤلفون: Chen, SW, Francioli, LC, Goodrich, JK, Collins, RL, Kanai, M, Wang, QB, Alfoldi, J, Watts, NA, Vittal, C, Gauthier, LD, Poterba, T, Wilson, MW, Tarasova, Y, Phu, W, Grant, R, Yohannes, MT, Koenig, Z, Farjoun, Y, Banks, E, Donnelly, S, Gabriel, S, Gupta, N, Ferriera, S, Tolonen, C, Novod, S, Bergelson, L, Roazen, D, Ruano-Rubio, V, Covarrubias, M, Llanwarne, C, Petrillo, N, Wade, G, Jeandet, T, Munshi, R, Tibbetts, K, O'Donnell-Luria, A, Solomonson, M, Seed, C, Martin, AR, Talkowski, ME, Rehm, HL, Daly, MJ, Tiao, G, Neale, BM, MacArthur, DG, Karczewski, KJ, Abreu, M, Salinas, CAA, Ahmad, T, Albert, CM, Ardissino, D, Armean, IM, Atkinson, EG, Atzmon, G, Barnard, J, Baxter, SM, Beaugerie, L, Benjamin, EJ, Benjamin, D, Boehnke, M, Bonnycastle, LL, Bottinger, EP, Bowden, DW, Bown, MJ, Brand, H, Brant, S, Brookings, T, Bryant, S, Calvo, SE, Campos, H, Chambers, JC, Chan, JC, Chao, KR, Chapman, S, Chasman, DI, Chisholm, R, Cho, J, Chowdhury, R, Chung, MK, Chung, WK, Cibulskis, K, Cohen, B, Connolly, KM, Correa, A, Cummings, BB, Dabelea, D, Danesh, J, Darbar, D, Darnowsky, P, Denny, J, Duggirala, R, Dupuis, J, Ellinor, PT, Elosua, R, Emery, J, England, E, Erdmann, J, Esko, T, Evangelista, E, Fatkin, D, Florez, J, Franke, A, Fu, J, Farkkila, M, Garimella, K, Gentry, J, Getz, G, Glahn, DC, Glaser, B, Glatt, SJ, Goldstein, D, Gonzalez, C, Groop, L, Gudmundsson, S, Haessly, A, Haiman, C, Hall, I, Hanis, CL, Harms, M, Hiltunen, M, Holi, MM, Hultman, CM, Jalas, C, Kallela, M, Kaplan, D, Kaprio, J, Kathiresan, S, Kenny, EE, Kim, BJ, Kim, YJ, King, D, Kirov, G, Kooner, J, Koskinen, S, Krumholz, HM, Kugathasan, S, Kwak, SH, Laakso, M, Lake, N, Langsford, T, Laricchia, KM, Lehtimaki, T, Lek, M, Lipscomb, E, Loos, RJF, Lu, WH, Lubitz, SA, Luna, TT, Ma, RCW, Marcus, GM, Marrugat, J, Mattila, KM, McCarroll, S, McCarthy, MI, McCauley, JL, McGovern, D, McPherson, R, Meigs, JB, Melander, O, Metspalu, A, Meyers, D, Minikel, EV, Mitchell, BD, Mootha, VK, Naheed, A, Nazarian, S, Nilsson, PM, O'Donovan, MC, Okada, Y, Ongur, D, Orozco, L, Owen, MJ, Palmer, C, Palmer, ND, Palotie, A, Park, KS, Pato, C, Pulver, AE, Rader, D, Rahman, N, Reiner, A, Remes, AM, Rhodes, D, Rich, S, Rioux, JD, Ripatti, S, Roden, DM, Rotter, JI, Sahakian, N, Saleheen, D, Salomaa, V, Saltzman, A, Samani, NJ, Samocha, KE, Sanchis-Juan, A, Scharf, J, Schleicher, M, Schunkert, H, Schonherr, S, Seaby, EG, Shah, SH, Shand, M, Sharpe, T, Shoemaker, MB, Shyong, T, Silverman, EK, Singer-Berk, M, Sklar, P, Smith, JT, Smith, JG, Soininen, H, Sokol, H, Son, RG, Soto, J, Spector, T, Stevens, C, Stitziel, NO, Sullivan, PF, Suvisaari, J, Tai, ES, Taylor, KD, Teo, YY, Tsuang, M, Tuomi, T, Turner, D, Tusie-Luna, T, Vartiainen, E, Vawter, M, Wang, L, Wang, A, Ware, JS, Watkins, H, Weersma, RK, Weisburd, B, Wessman, M, Whiffin, N, Wilson, JG, Xavier, RJ
المصدر: Nature. 625(7993):92-100
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Whiffin, N, Armean, IM, Kleinman, A, Marshall, JL, Minikel, EV, Goodrich, JK, Quaife, NM, Cole, JB, Wang, QB, Karczewski, KJ, Cummings, BB, Francioli, L, Laricchia, K, Guan, AN, Alipanahi, B, Morrison, P, Baptista, MAS, Merchant, KM, Banks, E, Bergelson, L, Cibulskis, K, Collins, RL, Connolly, KM, Covarrubias, M, Cummings, B, Daly, MJ, Donnelly, S, Farjoun, Y, Ferriera, S, Gabriel, S, Gauthier, LD, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Laricchia, KM, Llanwarne, C, Munshi, R, Neale, BM, Novod, S, O'Donnell-Luria, AH, Petrillo, N, Poterba, T, Roazen, D, Ruano-Rubio, V, Saltzman, A, Samocha, KE, Schleicher, M, Seed, C, Solomonson, M, Soto, J, Tiao, GC, Tibbetts, K, Tolonen, C, Vittal, C, Wade, G, Wang, AR, Watts, NA, Weisburd, B, Aguilar-Salinas, CA, Ahmad, T, Albert, CM, Ardissino, D, Atzmon, G, Barnard, J, Beaugerie, L, Benjamin, EJ, Boehnke, M, Bonnycastle, LL, Bottinger, EP, Bowden, DW, Bown, MJ, Chambers, JC, Chan, JAC, Chasman, D, Cho, J, Chung, MAK, Cohen, B, Correa, A, Dabelea, D, Darbar, D, Duggirala, R, Dupuis, J, Ellinor, PT, Elosua, R, Erdmann, J, Farkkila, M, Florez, J, Franke, A, Getz, G, Glaser, B, Glatt, SJ, Goldstein, D, Gonzalez, C, Groop, L, Haiman, C, Hanis, C, Harms, M, Hiltunen, M, Holi, MM, Hultman, CM, Kallela, M, Kaprio, J, Kathiresan, S, Kim, BJ, Kim, YJ, Kirov, G, Kooner, J, Koskinen, S, Krumholz, HM, Kugathasan, S, Kwak, SH, Laakso, M, Lehtimaki, T, Loos, RJF, Lubitz, SA, Ma, RCW, MacArthur, DG, Marrugat, J, Mattila, KM, McCarroll, S, McCarthy, MI, McGovern, D, McPherson, R, Meigs, JB, Melander, O, Metspalu, A, Nilsson, PM, O'Donovan, MC, Ongur, D, Orozco, L, Owen, MJ, Palmer, CNA, Palotie, A, Park, KS, Pato, C, Pulver, AE, Rahman, N, Remes, AM, Riou, JD, Ripatti, S, Roden, DM, Saleheen, D, Salomaa, V, Samani, NJ, Scharf, J, Schunkert, H, Shoemaker, MB, Sklar, P, Soininen, H, Sokol, H, Spector, T, Sullivan, PF, Suvisaari, J, Tai, ES, Teo, YY, Tiinamaija, T, Tsuang, M, Turner, D, Tusie-Luna, T, Vartiainen, E, Vawter, MP, Ware, JS, Watkins, H, Weersma, RK, Wessman, M, Wilson, JG, Xavier, RJ, Havulinna, AS, Iliadou, B, Lee, JJ, Nadkarni, GN, Whiteman, C, Agee, M, Auton, A, Bell, RK, Bryc, K, Elson, SL, Fontanillas, P, Furlotte, NA, Hicks, B, Hinds, DA, Huber, KE, Jewett, EM, Jiang, YN, Lin, KH, Litterman, NK, McIntyre, MH, McManus, KF, Mountain, JL, Noblin, ES, Northover, CAM, Pitts, SJ, Poznik, GD, Sathirapongsasuti, JF, Shelton, JF, Shringarpure, S, Tian, C, Tung, JYY, Vacic, V, Wang, X, Wilson, CH, Daly, M, Esko, T, Hultman, C, Milani, L, Pato, M, Alfoldi, J, Cannon, P
المصدر: Nature medicine. 27(2):355-355
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Satterstrom, FK, Kosmicki, JA, Wang, JB, Breen, MS, De Rubeis, S, An, JY, Peng, MS, Collins, R, Grove, J, Klei, L, Stevens, C, Reichert, J, Mulhern, MS, Artomov, M, Gerges, S, Sheppard, B, Xu, XY, Bhaduri, A, Norman, U, Brand, H, Schwartz, G, Nguyen, R, Guerrero, EE, Dias, C, Betancur, C, Cook, EH, Gallagher, L, Gill, M, Sutcliffe, JS, Thurm, A, Zwick, ME, Borglum, AD, State, MW, Cicek, AE, Talkowski, ME, Cutler, DJ, Devlin, B, Sanders, SJ, Roeder, K, Daly, MJ, Buxbaum, JD, Aleksic, B, Anney, R, Barbosa, M, Bishop, S, Brusco, A, Bybjerg-Grauholm, J, Carracedo, A, Chan, MCY, Chiocchetti, AG, Chung, BHY, Coon, H, Cuccaro, ML, Curro, A, Dalla Bernardina, B, Doan, R, Domenici, E, Dong, S, Fallerini, C, Fernandez-Prieto, M, Ferrero, GB, Freitag, CM, Fromer, M, Gargus, JJ, Geschwind, D, Giorgio, E, Gonzalez-Penas, J, Guter, S, Halpern, D, Hansen-Kiss, E, He, X, Herman, GE, Hertz-Picciotto, I, Hougaard, DM, Hultman, CM, Ionita-Laza, I, Jacob, S, Jamison, J, Jugessur, A, Kaartinen, M, Knudsen, GP, Kolevzon, A, Kushima, I, Lee, SL, Lehtimaki, T, Lim, ET, Lintas, C, Lipkin, WI, Lopergolo, D, Lopes, F, Ludena, Y, Maciel, P, Magnus, P, Mahjani, B, Maltman, N, Manoach, DS, Meiri, G, Menashe, I, Miller, J, Minshew, N, Montenegro, EMS, Moreira, D, Morrow, EM, Mors, O, Mortensen, PB, Mosconi, M, Muglia, P, Neale, BM, Nordentoft, M, Ozaki, N, Palotie, A, Parellada, M, Passos-Bueno, MR, Pericak-Vance, M, Persico, AM, Pessah, I, Puura, K, Reichenberg, A, Renieri, A, Riberi, E, Robinson, EB, Samocha, KE, Sandin, S, Santangelo, SL, Schellenberg, G, Scherer, SW, Schlitt, S, Schmidt, R, Schmitt, L, Silva, IMW, Singh, T, Siper, PM, Smith, M, Soares, G, Stoltenberg, C, Suren, P, Susser, E, Sweeney, J, Szatmari, P, Tang, L, Tassone, F, Teufel, K, Trabetti, E, Trelles, MD, Walsh, CA, Weiss, LA, Werge, T, Werling, DM, Wigdor, EM, Wilkinson, E, Willsey, AJ, Yu, TW, Yu, MH, Yuen, R, Zachi, E, Agerbo, E, Als, TD, Appadurai, V, Baekvad-Hansen, M, Belliveau, R, Buil, A, Carey, CE, Cerrato, F, Chambert, K, Churchhouse, C, Dalsgaard, S, Demontis, D, Dumont, A, Goldstein, J, Hansen, CS, Hauberg, ME, Hollegaard, MV, Howrigan, DP, Huang, HL, Maller, J, Martin, AR, Martin, J, Mattheisen, M, Moran, J, Pallesen, J, Palmer, DS, Pedersen, CB, Pedersen, MG, Poterba, T, Poulsen, JB, Ripke, S, Schork, AJ, Thompson, WK, Turley, P, Walters, RK
المصدر: Cell. 180(3):568
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Minikel, EV, Vallabh, SM, Lek, M, Estrada, K, Samocha, KE, Sathirapongsasuti, JF, McLean, CY, Tung, JY, Yu, LPC, Gambetti, P, Blevins, J, Zhang, SL, Cohen, Y, Chen, W, Yamada, M, Hamaguchi, T, Sanjo, N, Mizusawa, H, Nakamura, Y, Kitamoto, T, Collins, SJ, Boyd, A, Will, RG, Knight, R, Ponto, C, Zerr, I, Kraus, TFJ, Eigenbrod, S, Giese, A, Calero, M, de Pedro-Cuesta, J, Haik, S, Laplanche, JL, Bouaziz-Amar, E, Brandel, JP, Capellari, S, Parchi, P, Poleggi, A, Ladogana, A, O'Donnell-Luria, AH, Karczewski, KJ, Marshall, JL, Boehnke, M, Laakso, M, Mohlke, KL, Kahler, A, Chambert, K, McCarroll, S, Sullivan, PF, Hultman, CM, Purcell, SM, Sklar, P, van der Lee, SJ, Rozemuller, A, Jansen, C, Hofman, A, Kraaij, R, van Rooij, JGJ, Ikram, MA, Uitterlinden, AG, van Duijn, CM, Daly, MJ, MacArthur, DG
المصدر: Science translational medicine. 8(322)
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Sanders, Stephan, Robinson, EB, St, B, Anttila, V, Kosmicki, JA, Bulik-Sullivan, B, Grove, J, Maller, J, Samocha, KE, Sanders, SJ, Ripke, S
URL الوصول: https://escholarship.org/uc/item/93q0f583
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6دورية أكاديمية
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7دورية أكاديمية
المؤلفون: Weiner, DJ, Wigdor, EM, Ripke, S, Walters, RK, Kosmicki, JA, Grove, J, Samocha, KE, Goldstein, JI, Okbay, A, Bybjerg-Grauholm, J, Werge, T, Hougaard, DM, Taylor, J, Skuse, D, Devlin, B, Anney, R, Sanders, SJ, Bishop, S, Mortensen, PB, Borglum, AD, Smith, GD, Daly, MJ, Robinson, EB, Baekvad-Hansen, M, Dumont, A, Hansen, C, Hansen, TF, Howrigan, D, Mattheisen, M, Moran, J, Mors, O, Nordentoft, M, Norgaard-Pedersen, B, Poterba, T, Poulsen, J, Stevens, C, Anttila, V, Holmans, P, Huang, HL, Klei, L, Lee, PH, Medland, SE, Neale, B, Weiss, LA, Zwaigenbaum, L, Yu, TW, Wittemeyer, K, Willsey, AJ, Wijsman, EM, Wassink, TH, Waltes, R, Walsh, CA, Wallace, S, Vorstman, JAS, Vieland, VJ, Vicente, AM, van Engeland, H, Tsang, K, Thompson, AP, Szatmari, P, Svantesson, O, Steinberg, S, Stefansson, K, Stefansson, H, State, MW, Soorya, L, Silagadze, T, Scherer, SW, Schellenberg, GD, Sandin, S, Saemundsen, E, Rouleau, GA, Roge, B, Roeder, K, Roberts, W, Reichert, J, Reichenberg, A, Rehnstrom, K, Regan, R, Poustka, F, Poultney, CS, Piven, J, Pinto, D, Pericak-Vance, MA, Pejovic-Milovancevic, M, Pedersen, MG, Pedersen, CB, Paterson, AD, Parr, JR, Pagnamenta, AT, Oliveira, G, Nurnberger, JI, Murtha, MT, Mouga, S, Morrow, EM, De Luca, DM, Monaco, AP, Minshew, N, Merikangas, A, McMahon, WM, McGrew, SG, Martsenkovsky, I, Martin, DM, Mane, SM, Magnusson, P, Magalhaes, T, Maestrini, E, Lowe, JK, Lord, C, Levitt, P, Martin, CL, Ledbetter, DH, Leboyer, M, Le Couteur, AS, Ladd-Acosta, C, Kolevzon, A, Klauck, SM, Jacob, S, Iliadou, B, Hultman, CM, Hertz-Picciotto, I, Hendren, R, Hansen, CS, Haines, JL, Guter, SJ, Grice, DE, Green, JM, Green, A, Goldberg, AP, Gillberg, C, Gilbert, J, Gallagher, L, Freitag, CM, Fombonne, E, Folstein, SE, Fernandez, B, Fallin, MD, Ercan-Sencicek, AG, Ennis, S, Duque, F, Duketis, E, Delorme, R, De Rubeis, S, De Jonge, MV, Dawson, G, Cuccaro, ML, Correia, CT, Conroy, J, Conceicao, IC, Chiocchetti, AG, Celestino-Soper, PBS, Casey, J, Cantor, RM, Cafe, C, Brennan, S, Bourgeron, T, Bolton, PF, Bolte, S, Bolshakova, N, Betancur, C, Bernier, R, Beaudet, AL, Battaglia, A, Bal, VH, Baird, G, Bailey, AJ, Bader, JS, Bacchelli, E, Anagnostou, E, Amaral, D, Almeida, J, Buxbaum, JD, Chakravarti, A, Cook, EH, Coon, H, Geschwind, DH, Gill, M, Hakonarson, H, Hallmayer, J, Palotie, A, Santangelo, S, Sutcliffe, JS, Arking, DE
المصدر: Nature genetics. 49(7):978
مصطلحات موضوعية: Medicin och hälsovetenskap
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8
المؤلفون: Wright, CF, Campbell, P, Eberhardt, RY, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, EJ, Chundru, VK, Lindsay, SJ, Andrews, K, Hampstead, J, Kaplanis, J, Samocha, KE, Middleton, A, Foreman, J, Hobson, RJ, Parker, MJ, Martin, HC, FitzPatrick, DR, Hurles, ME, Firth, HV
المساهمون: Study, DDD
المصدر: Wright, C F, Campbell, P, Eberhardt, R Y, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, E J, Chundru, V K, Lindsay, S J, Andrews, K A, Hampstead, J, Kaplanis, J, Samocha, K E, Middleton, A, Foreman, J, Hobson, R J, Parker, M, Martin, H C, FitzPatrick, D R, Hurles, M E & Firth, H V 2023, ' Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland ', New England Journal of Medicine . https://doi.org/https://www.nejm.org/doi/10.1056/NEJMoa2209046?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
N Engl J Medمصطلحات موضوعية: General Medicine, Article
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44ca125a2f1e2095a7c5c211987eca09
https://doi.org/10.1056/nejmoa2209046 -
9دورية أكاديمية
المؤلفون: Lek, M, Karczewski, KJ, Minikel, EV, Samocha, KE, Banks, E, Fennell, T, O'Donnell-Luria, AH, Ware, JS, Hill, AJ, Cummings, BB, Tukiainen, T, Birnbaum, DP, Kosmicki, JA, Duncan, LE, Estrada, K, Zhao, FM, Zou, J, Pierce-Hollman, E, Berghout, J, Cooper, DN, Deflaux, N, DePristo, M, Do, R, Flannick, J, Fromer, M, Gauthier, L, Goldstein, J, Gupta, N, Howrigan, D, Kiezun, A, Kurki, MI, Moonshine, AL, Natarajan, P, Orozeo, L, Peloso, GM, Poplin, R, Rivas, MA, Ruano-Rubio, V, Rose, SA, Ruderfer, DM, Shakir, K, Stenson, PD, Stevens, C, Thomas, BP, Tiao, G, Tusie-Luna, MT, Weisburd, B, Won, HH, Yu, DM, Altshuler, DM, Ardissino, D, Boehnke, M, Danesh, J, Donnelly, S, Elosua, R, Florez, JC, Gabriel, SB, Getz, G, Glatt, SJ, Hultman, CM, Kathiresan, S, Laakso, M, NcCarroll, S, McCarthy, MI, McGovern, D, McPherson, R, Neale, BM, Palotie, A, Purcell, SM, Saleheen, D, Scharf, JM, Sklar, P, Sullivan, PF, Tuomilehto, J, Tsuang, MT, Watkins, HC, Wilson, JG, Daly, MJ, MacArthur, DG
المصدر: Nature. 536(7616):285
مصطلحات موضوعية: Medicin och hälsovetenskap
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10
المؤلفون: Wright, CF, Quaife, NM, Ramos-Hernández, L, Danecek, P, Ferla, MP, Samocha, KE, Kaplanis, J, Gardner, EJ, Eberhardt, RY, Chao, KR, Karczewski, KJ, Morales, J, Gallone, G, Balasubramanian, M, Banka, S, Gompertz, L, Kerr, B, Kirby, A, Lynch, SA, Morton, JEV, Pinz, H, Sansbury, FH, Stewart, H, Zuccarelli, BD, Consortium, Genomics England Research, Cook, SA, Taylor, JC, Juusola, J, Retterer, K, Firth, HV, Hurles, ME, Lara-Pezzi, E, Barton, PJR, Whiffin, N
المساهمون: Leducq Foundation for Cardiovascular Research, Imperial College Healthcare NHS Trust- BRC Funding
المصدر: Am J Hum Genet
Genomics England Research Consortium 2021, ' Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1083-1094 . https://doi.org/10.1016/j.ajhg.2021.04.025مصطلحات موضوعية: Untranslated region, medicine.medical_specialty, DNA Copy Number Variations, Developmental Disabilities, Biology, Article, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, Exome Sequencing, Genetics, medicine, Coding region, Humans, Genetic Predisposition to Disease, Child, Exome, Gene, 11 Medical and Health Sciences, Genetics (clinical), Loss function, Exome sequencing, 030304 developmental biology, Genetics & Heredity, 0303 health sciences, MEF2 Transcription Factors, developmental disorders, clinical genetic testing, non-coding region variants, 5' UTR variants, 06 Biological Sciences, Genomics England Research Consortium, Medical genetics, Haploinsufficiency, 5' Untranslated Regions, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e16a87ad0288d35265ae7a6ad3db8b
https://europepmc.org/articles/PMC8206381/
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