Structural and Non-Coding Variants Increase the Diagnostic Yield of Clinical Whole Genome Sequencing for Rare Diseases

AuthID
P-00Z-C2F
97
Author(s)
Pagnamenta, AT
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Camps, C
·
Giacopuzzi, E
·
Hashim, M
·
[+8]·
[+11]·
[+5]·
[+17]·
[+4]·
[+1]·
[+6]·
[+10]·
[+7]·
[+8]·
Schuh, AH
·
Kini, U
·
Wilkie, AOM
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Popitsch, N
·
Taylor, JC
Document Type
Article
Year published
2023
Published
in GENOME MEDICINE, ISSN: 1756-994X
Volume: 15, Issue: 1
Indexing
Publication Identifiers
Pubmed: 37946251
SCOPUS: 2-s2.0-85176092612
Wos: WOS:001099214900001
Source Identifiers
ISSN: 1756-994X
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Name Order Name   Name Order Name   Name Order Name
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;