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Structural and Non-Coding Variants Increase the Diagnostic Yield of Clinical Whole Genome Sequencing for Rare Diseases
AuthID
P-00Z-C2F
P-00Z-C2F
97
Author(s)
Pagnamenta, AT
·Camps, C
·Giacopuzzi, E
·Hashim, M
·[+8]·
[+11]·
[+5]·
[+17]·
[+4]·
[+1]·
[+6]·
[+10]·
[+7]·
[+8]·
Schuh, AH
·Kini, U
·Wilkie, AOM
·Popitsch, N
·Taylor, JC
Tipo de Documento
Article
Year published
2023
Publicado
in GENOME MEDICINE, ISSN: 1756-994X
Volume: 15, Número: 1
Indexing
Publication Identifiers
Pubmed: 37946251
SCOPUS: 2-s2.0-85176092612
Wos: WOS:001099214900001
Source Identifiers
ISSN: 1756-994X
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Journal Factors
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Full Text
| Name Order | Nome | Name Order | Nome | Name Order | Nome | ||
|---|---|---|---|---|---|---|---|
| 1 | Pagnamenta, AT; | 2 | Camps, C; | 3 | Giacopuzzi, E; | ||
| 4 | Taylor, JM; | 5 | Hashim, M; | 6 | Calpena, E; | ||
| 7 | Kaisaki, PJ; | 8 | Hashimoto, A; | 9 | Yu, J; | ||
| 10 | Sanders, E; | 11 | Schwessinger, R; | 12 | Hughes, JR; | ||
| 13 | Lunter, G; | 14 | Dreau, H; | 15 | Ferla, M; | ||
| 16 | Lange, L; | 17 | Kesim, Y; | 18 | Ragoussis, V; | ||
| 19 | Vavoulis, DV; | 20 | Allroggen, H; | 21 | Ansorge, O; | ||
| 22 | Babbs, C; | 23 | Banka, S; | 24 | Baños Piñero, B; | ||
| 25 | Beeson, D; | 26 | Ben Ami, T; | 27 | Bennett, DL; | ||
| 28 | Bento, C; | 29 | Blair, E; | 30 | Brasch Andersen, C; | ||
| 31 | Bull, KR; | 32 | Cario, H; | 33 | Cilliers, D; | ||
| 34 | Conti, V; | 35 | Davies, EG; | 36 | Dhalla, F; | ||
| 37 | Dacal, BD; | 38 | Dong, Y; | 39 | Dunford, JE; | ||
| 40 | Guerrini, R; | 41 | Harris, AL; | 42 | Hartley, J; | ||
| 43 | Hollander, G; | 44 | Javaid, K; | 45 | Kane, M; | ||
| 46 | Kelly, D; | 47 | Kelly, D; | 48 | Knight, SJL; | ||
| 49 | Kreins, AY; | 50 | Kvikstad, EM; | 51 | Langman, CB; | ||
| 52 | Lester, T; | 53 | Lines, KE; | 54 | Lord, SR; | ||
| 55 | Lu, X; | 56 | Mansour, S; | 57 | Manzur, A; | ||
| 58 | Maroofian, R; | 59 | Marsden, B; | 60 | Mason, J; | ||
| 61 | McGowan, SJ; | 62 | Mei, DVD; | 63 | Mlcochova, H; | ||
| 64 | Murakami, Y; | 65 | Németh, AH; | 66 | Okoli, S; | ||
| 67 | Ormondroyd, E; | 68 | Ousager, LB; | 69 | Palace, J; | ||
| 70 | Patel, SY; | 71 | Pentony, MM; | 72 | Pugh, C; | ||
| 73 | Rad, A; | 74 | Ramesh, A; | 75 | Riva, SG; | ||
| 76 | Roberts, I; | 77 | Roy, N; | 78 | Salminen, O; | ||
| 79 | Schilling, KD; | 80 | Scott, C; | 81 | Sen, A; | ||
| 82 | Smith, C; | 83 | Stevenson, M; | 84 | Thakker, RV; | ||
| 85 | Twigg, SRF; | 86 | Uhlig, HH; | 87 | van Wijk, R; | ||
| 88 | Vona, B; | 89 | Wall, S; | 90 | Wang, J; | ||
| 91 | Watkins, H; | 92 | Zak, J; | 93 | Schuh, AH; | ||
| 94 | Kini, U; | 95 | Wilkie, AOM; | 96 | Popitsch, N; | ||
| 97 | Taylor, JC; |
