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Improving Genetic Diagnosis in Mendelian Disease with Transcriptome Sequencing
AuthID
P-00M-Q75
P-00M-Q75
246
Author(s)
Cummings, BB
·Marshall, JL
·Tukiainen, T
·Lek, M
·Donkervoort, S
·Foley, AR
·Bolduc, V
·Waddell, LB
·Sandaradura, SA
·O'Grady, GL
·[+226]·
Li, G
·Yeger Lotem, E
·Maurano, MT
·Barshir, R
·Basha, O
·Xi, HS
·Quan, J
·Sammeth, M
·Zaugg, JB
Document Type
Article
Year published
2017
Published
in Science Translational Medicine, ISSN: 1946-6234
Volume: 9, Issue: 386, Pages: eaal5209
Indexing
Publication Identifiers
Scopus: 2-s2.0-85018570855
Source Identifiers
ISSN: 1946-6234
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Journal Factors
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| Name Order | Name | Name Order | Name | Name Order | Name | ||
|---|---|---|---|---|---|---|---|
| 1 | Cummings, BB; | 2 | Marshall, JL; | 3 | Tukiainen, T; | ||
| 4 | Lek, M; | 5 | Donkervoort, S; | 6 | Foley, AR; | ||
| 7 | Bolduc, V; | 8 | Waddell, LB; | 9 | Sandaradura, SA; | ||
| 10 | O'Grady, GL; | 11 | Estrella, E; | 12 | Reddy, HM; | ||
| 13 | Zhao, F; | 14 | Weisburd, B; | 15 | Karczewski, KJ; | ||
| 16 | O'Donnell Luria, AH; | 17 | Birnbaum, D; | 18 | Sarkozy, A; | ||
| 19 | Hu, Y; | 20 | Gonorazky, H; | 21 | Claeys, K; | ||
| 22 | Joshi, H; | 23 | Bournazos, A; | 24 | Oates, EC; | ||
| 25 | Ghaoui, R; | 26 | Davis, MR; | 27 | Laing, NG; | ||
| 28 | Topf, A; | 29 | Kang, PB; | 30 | Beggs, AH; | ||
| 31 | North, KN; | 32 | Straub, V; | 33 | Dowling, JJ; | ||
| 34 | Muntoni, F; | 35 | Clarke, NF; | 36 | Cooper, ST; | ||
| 37 | Bönnemann, CG; | 38 | MacArthur, DG; | 39 | Ardlie, KG; | ||
| 40 | Getz, G; | 41 | Gelfand, ET; | 42 | Segrè, AV; | ||
| 43 | Aguet, F; | 44 | Sullivan, TJ; | 45 | Li, X; | ||
| 46 | Nedzel, JL; | 47 | Trowbridge, CA; | 48 | Hadley, K; | ||
| 49 | Huang, KH; | 50 | Noble, MS; | 51 | Nguyen, DT; | ||
| 52 | Nobel, AB; | 53 | Wright, FA; | 54 | Shabalin, AA; | ||
| 55 | Palowitch, JJ; | 56 | Zhou, YH; | 57 | Dermitzakis, ET; | ||
| 58 | McCarthy, MI; | 59 | Payne, AJ; | 60 | Lappalainen, T; | ||
| 61 | Castel, S; | 62 | Kim Hellmuth, S; | 63 | Mohammadi, P; | ||
| 64 | Battle, A; | 65 | Parsana, P; | 66 | Mostafavi, S; | ||
| 67 | Brown, A; | 68 | Ongen, H; | 69 | Delaneau, O; | ||
| 70 | Panousis, N; | 71 | Howald, C; | 72 | Van De Bunt, M; | ||
| 73 | Guigo, R; | 74 | Monlong, J; | 75 | Reverter, F; | ||
| 76 | Garrido, D; | 77 | Munoz, M; | 78 | Bogu, G; | ||
| 79 | Sodaei, R; | 80 | Papasaikas, P; | 81 | Ndungu, AW; | ||
| 82 | Montgomery, SB; | 83 | Li, X; | 84 | Fresard, L; | ||
| 85 | Davis, JR; | 86 | Tsang, EK; | 87 | Zappala, Z; | ||
| 88 | Abell, NS; | 89 | Gloudemans, MJ; | 90 | Liu, B; | ||
| 91 | Damani, FN; | 92 | Saha, A; | 93 | Kim, Y; | ||
| 94 | Strober, BJ; | 95 | He, Y; | 96 | Stephens, M; | ||
| 97 | Pritchard, JK; | 98 | Wen, X; | 99 | Urbut, S; | ||
| 100 | Cox, NJ; | 101 | Nicolae, DL; | 102 | Gamazon, ER; | ||
| 103 | Im, HK; | 104 | Brown, CD; | 105 | Engelhardt, BE; | ||
| 106 | Park, Y; | 107 | Jo, B; | 108 | McDowell, IC; | ||
| 109 | Gewirtz, A; | 110 | Gliner, G; | 111 | Conrad, D; | ||
| 112 | Hall, I; | 113 | Chiang, C; | 114 | Scott, A; | ||
| 115 | Sabatti, C; | 116 | Eskin, E; | 117 | Peterson, C; | ||
| 118 | Hormozdiari, F; | 119 | Kang, EY; | 120 | Mangul, S; | ||
| 121 | Han, B; | 122 | Sul, JH; | 123 | Feinberg, AP; | ||
| 124 | Rizzardi, LF; | 125 | Hansen, KD; | 126 | Hickey, P; | ||
| 127 | Akey, J; | 128 | Kellis, M; | 129 | Li, JB; | ||
| 130 | Snyder, M; | 131 | Tang, H; | 132 | Jiang, L; | ||
| 133 | Lin, S; | 134 | Stranger, BE; | 135 | Fernando, M; | ||
| 136 | Oliva, M; | 137 | Stamatoyannopoulos, J; | 138 | Kaul, R; | ||
| 139 | Halow, J; | 140 | Sandstrom, R; | 141 | Haugen, E; | ||
| 142 | Johnson, A; | 143 | Lee, K; | 144 | Bates, D; | ||
| 145 | Diegel, M; | 146 | Pierce, BL; | 147 | Chen, L; | ||
| 148 | Kibriya, MG; | 149 | Jasmine, F; | 150 | Doherty, J; | ||
| 151 | Demanelis, K; | 152 | Smith, KS; | 153 | Li, Q; | ||
| 154 | Zhang, R; | 155 | Nierras, CR; | 156 | Moore, HM; | ||
| 157 | Rao, A; | 158 | Guan, P; | 159 | Vaught, JB; | ||
| 160 | Branton, PA; | 161 | Carithers, LJ; | 162 | Volpi, S; | ||
| 163 | Struewing, JP; | 164 | Martin, CG; | 165 | Nicole, LC; | ||
| 166 | Koester, SE; | 167 | Addington, AM; | 168 | Little, AR; | ||
| 169 | Leinweber, WF; | 170 | Thomas, JA; | 171 | Kopen, G; | ||
| 172 | McDonald, A; | 173 | Mestichelli, B; | 174 | Shad, S; | ||
| 175 | Lonsdale, JT; | 176 | Salvatore, M; | 177 | Hasz, R; | ||
| 178 | Walters, G; | 179 | Johnson, M; | 180 | Washington, M; | ||
| 181 | Brigham, LE; | 182 | Johns, C; | 183 | Wheeler, J; | ||
| 184 | Roe, B; | 185 | Hunter, M; | 186 | Myer, K; | ||
| 187 | Foster, BA; | 188 | Moser, MT; | 189 | Karasik, E; | ||
| 190 | Gillard, BM; | 191 | Kumar, R; | 192 | Bridge, J; | ||
| 193 | Miklos, M; | 194 | Jewell, SD; | 195 | Rohrer, DC; | ||
| 196 | Valley, D; | 197 | Montroy, RG; | 198 | Mash, DC; | ||
| 199 | Davis, DA; | 200 | Undale, AH; | 201 | Smith, AM; | ||
| 202 | Tabor, DE; | 203 | Roche, NV; | 204 | McLean, JA; | ||
| 205 | Vatanian, N; | 206 | Robinson, KL; | 207 | Sobin, L; | ||
| 208 | Barcus, ME; | 209 | Valentino, KM; | 210 | Qi, L; | ||
| 211 | Hunter, S; | 212 | Hariharan, P; | 213 | Singh, S; | ||
| 214 | Um, KS; | 215 | Matose, T; | 216 | Tomadzewski, MM; | ||
| 217 | Siminoff, LA; | 218 | Traino, HM; | 219 | Mosavel, M; | ||
| 220 | Barker, LK; | 221 | Zerbino, DR; | 222 | Juettmann, T; | ||
| 223 | Taylor, K; | 224 | Ruffier, M; | 225 | Sheppard, D; | ||
| 226 | Trevanion, S; | 227 | Flicek, P; | 228 | Kent, WJ; | ||
| 229 | Rosenbloom, KR; | 230 | Haeussler, M; | 231 | Lee, CM; | ||
| 232 | Paten, B; | 233 | Vivan, J; | 234 | Zhu, J; | ||
| 235 | Goldman, M; | 236 | Craft, B; | 237 | Li, G; | ||
| 238 | Ferreira, PG ; | 239 | Yeger Lotem, E; | 240 | Maurano, MT; | ||
| 241 | Barshir, R; | 242 | Basha, O; | 243 | Xi, HS; | ||
| 244 | Quan, J; | 245 | Sammeth, M; | 246 | Zaugg, JB; |
