학술논문

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Document Type
Article
Author
Cummings, B.B.Marshall, J.L.Tukiainen, T.Lek, M.Zhao, F.Weisburd, B.Karczewski, K.J.O'Donnell-Luria, A.H.Birnbaum, D.MacArthur, D.G.Waddell, L.B.Sandaradura, S.A.O'Grady, G.L.Bournazos, A.Oates, E.C.Ghaoui, R.Clarke, N.F.Cooper, S.T.Joshi, H.Donkervoort, S.Foley, A.R.Bolduc, V.Hu, Y.Bönnemann, C.G.Estrella, E.Kang, P.B.Beggs, A.H.Reddy, H.M.Sarkozy, A.Muntoni, F.Gonorazky, H.Dowling, J.J.Claeys, K.Davis, M.R.Laing, N.G.Topf, A.Straub, V.North, K.N.Ardlie, K.G.Getz, G.Gelfand, E.T.Segrè, A.V.Aguet, F.Sullivan, T.J.Li, X.Nedzel, J.L.Trowbridge, C.A.Hadley, K.Huang, K.H.Noble, M.S.Nguyen, D.T.Kellis, M.Zaugg, J.B.Sammeth, M.Nobel, A.B.Wright, F.A.Lappalainen, T.Castel, S.Kim-Hellmuth, S.Mohammadi, P.Shabalin, A.A.Palowitch, J.J.Battle, A.Parsana, P.Zhou, Y.-H.Mostafavi, S.Dermitzakis, E.T.Brown, A.Ongen, H.Delaneau, O.Panousis, N.Howald, C.McCarthy, M.I.Van De Bunt, M.Ndungu, A.W.Payne, A.J.Montgomery, S.B.Xi, H.S.Damani, F.N.Saha, A.Kim, Y.Strober, B.J.Guigo, R.Monlong, J.Reverter, F.Garrido, D.Munoz, M.Bogu, G.Sodaei, R.Papasaikas, P.Li, X.Fresard, L.Davis, J.R.Tsang, E.K.Zappala, Z.Abell, N.S.Gloudemans, M.J.Liu, B.Smith, K.S.Nicolae, D.L.He, Y.Stephens, M.Pritchard, J.K.Urbut, S.Wen, X.Cox, N.J.Gamazon, E.R.Im, H.K.Brown, C.D.Park, Y.Engelhardt, B.E.Jo, B.Gewirtz, A.McDowell, I.C.Gliner, G.Conrad, D.Hall, I.Chiang, C.Scott, A.Sabatti, C.Eskin, E.Peterson, C.Hormozdiari, F.Kang, E.Y.Mangul, S.Han, B.Sul, J.H.Feinberg, A.P.Rizzardi, L.F.Hansen, K.D.Hickey, P.Akey, J.Li, J.B.Snyder, M.Tang, H.Jiang, L.Lin, S.Li, Q.Zhang, R.Stranger, B.E.Fernando, M.Oliva, M.Quan, J.Stamatoyannopoulos, J.Kaul, R.Halow, J.Sandstrom, R.Haugen, E.Johnson, A.Lee, K.Bates, D.Diegel, M.Pierce, B.L.Chen, L.Kibriya, M.G.Jasmine, F.Demanelis, K.Doherty, J.Nierras, C.R.Moore, H.M.Rao, A.Guan, P.Vaught, J.B.Branton, P.A.Carithers, L.J.Volpi, S.Struewing, J.P.Martin, C.G.Nicole, L.C.Koester, S.E.Addington, A.M.Little, A.R.Leinweber, W.F.Thomas, J.A.Kopen, G.McDonald, A.Mestichelli, B.Shad, S.Lonsdale, J.T.Salvatore, M.Hasz, R.Walters, G.Johnson, M.Washington, M.Brigham, L.E.Johns, C.Wheeler, J.Roe, B.Hunter, M.Myer, K.Foster, B.A.Moser, M.T.Karasik, E.Gillard, B.M.Kumar, R.Bridge, J.Miklos, M.Jewell, S.D.Rohrer, D.C.Valley, D.Montroy, R.G.Mash, D.C.Davis, D.A.Undale, A.H.Smith, A.M.Tabor, D.E.Roche, N.V.McLean, J.A.Vatanian, N.Robinson, K.L.Sobin, L.Valentino, K.M.Qi, L.Hunter, S.Hariharan, P.Singh, S.Um, K.S.Matose, T.Tomadzewski, M.M.Barcus, M.E.Siminoff, L.A.Barker, L.K.Traino, H.M.Mosavel, M.Zerbino, D.R.Juettmann, T.Taylor, K.Ruffier, M.Sheppard, D.Trevanion, S.Flicek, P.Kent, W.J.Rosenbloom, K.R.Haeussler, M.Lee, C.M.Paten, B.Vivan, J.Zhu, J.Goldman, M.Craft, B.Li, G.Ferreira, P.G.Yeger-Lotem, E.Maurano, M.T.Barshir, R.Basha, O.
Source
In: Science Translational Medicine. (Science Translational Medicine, 19 April 2017, 9(386))
Subject
Language
English
ISSN
19466242
19466234