| Title | Reanalysis of Clinical Exome Sequencing Data. |
| Publication Type | Journal Article |
| Year of Publication | 2019 |
| Authors | Liu, P, Meng, L, Normand, EA, Xia, F, Song, X, Ghazi, A, Rosenfeld, J, Magoulas, PL, Braxton, A, Ward, P, Dai, H, Yuan, B, Bi, W, Xiao, R, Wang, X, Chiang, T, Vetrini, F, He, W, Cheng, H, Dong, J, Gijavanekar, C, Benke, PJ, Bernstein, JA, Eble, T, Eroglu, Y, Erwin, D, Escobar, L, Gibson, JB, Gripp, K, Kleppe, S, Koenig, MK, Lewis, AM, Natowicz, M, Mancias, P, Minor, LK, Scaglia, F, Schaaf, CP, Streff, H, Vernon, H, Uhles, CL, Zackai, EH, Wu, N, V Sutton, R, Beaudet, AL, Muzny, D, Gibbs, RA, Posey, JE, Lalani, S, Shaw, C, Eng, CM, Lupski, JR, Yang, Y |
| Journal | N Engl J Med |
| Volume | 380 |
| Issue | 25 |
| Pagination | 2478-2480 |
| Date Published | 2019 06 20 |
| ISSN | 1533-4406 |
| Keywords | Exome, Genetic Diseases, Inborn, Genetic Testing, Humans, Mutation, Phenotype, Sequence Analysis, DNA, Whole Exome Sequencing |
| DOI | 10.1056/NEJMc1812033 |
| Alternate Journal | N. Engl. J. Med. |
| PubMed ID | 31216405 |
| Grant List | R35 NS105078 / NS / NINDS NIH HHS / United States
K08 HG008986 / HG / NHGRI NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States |
