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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2023, 卷号: 110, 期号: 8, 页码: 1394+
作者:  Calame, DG;  Guo, TY;  Wang, C;  Garrett, L;  Jolly, A;  Dawood, M;  Kurolap, A;  Henig, NZ;  Fatih, JM;  Herman, I;  Du, HW;  Mitani, T;  Becker, L;  Rathkolb, B;  Gerlini, R;  Seisenberger, C;  Marschall, S;  Hunter, J;  Gerard, A;  Heidlebaugh, A;  Challman, T;  Spillmann, RC;  Jhangiani, SN;  Coban-Akdemir, Z;  Lalani, S;  Liu, LX;  Revah-Politi, A;  Iglesias, A;  Guzman, E;  Baugh, E;  Boddaert, N;  Rondeau, S;  Ormieres, C;  Barcia, G;  Tan, QKG;  Thiffault, SI;  Pastinen, T;  Sheikh, K;  Biliciler, S;  Mei, D;  Melani, F;  Shashi, V;  Yaron, Y;  Steele, M;  Wakeling, E;  Ostergaard, E;  Millan, F;  Santiago-Sim, T;  Thevenon, J;  Bruel, AL;  Thauvin-Robinet, C;  Popp, D;  Platzer, K;  Gawlinski, P;  Wiszniewski, W;  Marafi, D;  Pehlivan, D;  Posey, JE;  Gibbs, RA;  Gailus-Durner, V;  Guerrini, R;  Fuchs, H;  de Angelis, MH;  Hölter, SM;  Cheung, HH;  Gu, S;  Lupski, JR
Adobe PDF(4359Kb)  |  收藏  |  浏览/下载：10/0  |  提交时间：2024/06/21
The landscape of tolerated genetic variation in humans and primates 期刊论文
SCIENCE, 2023, 卷号: 380, 期号: 6648, 页码: 929+
作者:  Gao, H;  Hamp, T;  Ede, J;  Schraiber, JG;  McRae, J;  Singer-Berk, M;  Yang, YS;  Dietrich, ASD;  Fiziev, PP;  Kuderna, LFK;  Sundaram, L;  Wu, YB;  Adhikari, A;  Field, Y;  Chen, C;  Batzoglou, S;  Aguet, F;  Lemire, G;  Reimers, R;  Balick, D;  Janiak, MC;  Kuhlwilm, M;  Orkin, JD;  Manu, S;  Valenzuela, A;  Bergman, J;  Rousselle, M;  Silva, FE;  Agueda, L;  Blanc, J;  Gut, M;  de Vries, D;  Goodhead, I;  Harris, RA;  Raveendran, M;  Jensen, A;  Chuma, IS;  Horvath, JE;  Hvilsom, C;  Juan, DV;  Frandsen, P;  de Melo, FR;  Bertuol, F;  Byrne, H;  Sampaio, I;  Farias, I;  do Amaral, JV;  Messias, M;  da Silva, MNF;  Trivedi, M;  Rossi, R;  Hrbek, T;  Andriaholinirina, N;  Rabarivola, CJ;  Zaramody, A;  Jolly, CJ;  Phillips-Conroy, J;  Wilkerson, G;  Abee, C;  Simmons, JH;  Fernandez-Duque, E;  Kanthaswamy, S;  Shiferaw, F;  Wu, DD;  Zhou, L;  Shao, Y;  Zhang, GJ;  Keyyu, JD;  Knauf, S;  Le, MD;  Lizano, E;  Merker, S;  Navarro, A;  Bataillon, T;  Nadler, T;  Khor, CC;  Lee, J;  Tan, P;  Lim, WK;  Kitchener, AC;  Zinner, D;  Gut, I;  Melin, A;  Guschanski, K;  Schierup, MH;  Beck, RMD;  Umapathy, G;  Roos, C;  Boubli, JP;  Lek, M;  Sunyaev, S;  O'Donnell-Luria, A;  Rehm, HL;  Xu, JB;  Rogers, J;  Marques-Bonet, T;  Farh, KKH
Adobe PDF(6295Kb)  |  收藏  |  浏览/下载：195/0  |  提交时间：2024/06/21
On the origin and evolution of RNA editing in metazoans 期刊论文
CELL REPORTS, 2023, 卷号: 42, 期号: 2
作者:  Zhang, P;  Zhu, YZ;  Guo, QF;  Li, J;  Zhan, XY;  Yu, H;  Xie, NX;  Tan, HS;  Lundholm, N;  Garcia-Cuetos, L;  Martin, MD;  Subirats, MA;  Su, YH;  Ruiz-Trillo, I;  Martindale, MQ;  Yu, JK;  Gilbert, MTP;  Zhang, GJ;  Li, QY
Adobe PDF(3753Kb)  |  收藏  |  浏览/下载：76/0  |  提交时间：2024/06/21
Clinicopathological and immunological features of new onset kidney disease: a rare event after SARS-CoV-2 vaccination 期刊论文
NATIONAL SCIENCE REVIEW, 2023, 卷号: 10, 期号: 5
作者:  Zhang, YM;  Liu, XZ;  Zhang, Z;  Zhou, TC;  Zhang, X;  Yang, HY;  Tan, M;  Hu, N;  Shi, SF;  Wang, F;  Xu, R;  Liu, LJ;  Wang, SX;  Liu, G;  Zhou, FD;  Zhao, MH;  Zhang, H;  Lv, JC;  Zhang, YP;  Zhang, ZJ;  Yang, L
Adobe PDF(399Kb)  |  收藏  |  浏览/下载：241/0  |  提交时间：2024/06/21
Modeling SHANK3-associated autism spectrum disorder in Beagle dogs via CRISPR/Cas9 gene editing 期刊论文
MOLECULAR PSYCHIATRY, 2023
作者:  Tian, R;  Li, Y;  Zhao, H;  Lyu, W;  Zhao, JP;  Wang, XM;  Lu, H;  Xu, HJ;  Ren, W;  Tan, QQ;  Shi, Q;  Wang, GD;  Zhang, YP;  Lai, LX;  Mi, JD;  Jiang, YH;  Zhang, YQ
Adobe PDF(1672Kb)  |  收藏  |  浏览/下载：198/0  |  提交时间：2024/06/21
A global catalog of whole-genome diversity from 233 primate species 期刊论文
SCIENCE, 2023, 卷号: 380, 期号: 6648, 页码: 906-912
作者:  Kuderna, LFK;  Gao, H;  Janiak, MC;  Kuhlwilm, M;  Orkin, JD;  Bataillon, T;  Manu, S;  Valenzuela, A;  Bergman, J;  Rousselle, M;  Silva, FE;  Agueda, L;  Blanc, J;  Gut, M;  de Vries, D;  Goodhead, I;  Harris, RA;  Raveendran, M;  Jensen, A;  Chuma, IS;  Horvath, JE;  Hvilsom, C;  Juan, DV;  Frandsen, P;  Schraiber, JG;  de Melo, FR;  Bertuol, F;  Byrne, H;  Sampaio, I;  Farias, I;  Valsecchi, J;  Messias, M;  da Silva, MNF;  Trivedi, M;  Rossi, R;  Hrbek, T;  Andriaholinirina, N;  Rabarivola, CJ;  Zaramody, A;  Jolly, CJ;  Phillips-Conroy, J;  Wilkerson, G;  Abee, C;  Simmons, JH;  Fernandez-Duque, E;  Kanthaswamy, S;  Shiferaw, F;  Wu, DD;  Zhou, L;  Shao, Y;  Zhang, GJ;  Keyyu, JD;  Knauf, S;  Le, MD;  Lizano, E;  Merker, S;  Navarro, A;  Nadler, T;  Khor, CC;  Lee, J;  Tan, PT;  Lim, WK;  Kitchener, AC;  Zinner, D;  Gut, I;  Melin, AD;  Guschanski, K;  Schierup, MH;  Beck, RMD;  Umapathy, G;  Roos, C;  Boubli, JP;  Rogers, J;  Farh, KKH;  Bonet, TM
Adobe PDF(3340Kb)  |  收藏  |  浏览/下载：5/0  |  提交时间：2024/06/21
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2023, 卷号: 110, 期号: 3, 页码: 515-530
作者:  Liu, CY;  Si, W;  Tu, CF;  Tian, SX;  He, XJ;  Wang, SN;  Yang, XY;  Yao, CC;  Li, C;  Kherraf, ZE;  Ye, MS;  Zhou, ZX;  Ma, YH;  Gao, Y;  Li, Y;  Liu, QW;  Tang, SY;  Wang, JX;  Saiyin, HXG;  Zhao, LY;  Yang, LQ;  Meng, LL;  Chen, BB;  Tang, DD;  Zhou, YL;  Wu, H;  Lv, MR;  Tan, C;  Lin, G;  Kong, QP;  Shi, H;  Su, ZX;  Li, Z;  Yao, YG;  Jin, L;  Zheng, P;  Ray, PF;  Tan, YQ;  Cao, YX;  Zhang, F
Adobe PDF(6362Kb)  |  收藏  |  浏览/下载：194/0  |  提交时间：2024/06/21
Role of LL-37 in thrombotic complications in patients with COVID-19 期刊论文
CELLULAR AND MOLECULAR LIFE SCIENCES, 2022, 卷号: 79, 期号: 6
作者:  Duan, ZL;  Zhang, J;  Chen, X;  Liu, M;  Zhao, HW;  Jin, L;  Zhang, ZY;  Luan, N;  Meng, P;  Wang, J;  Tan, ZX;  Li, YX;  Deng, GH;  Lai, R
Adobe PDF(3785Kb)  |  收藏  |  浏览/下载：1063/0  |  提交时间：2023/04/11
Continuous subcellular resolution three-dimensional imaging on intact macaque brain 期刊论文
SCIENCE BULLETIN, 2022, 卷号: 67, 期号: 1, 页码: 85-96
作者:  Zhou, C;  Yang, XQ;  Wu, SA;  Zhong, QY;  Luo, T;  Li, AA;  Liu, GC;  Sun, QT;  Luo, P;  Deng, L;  Ni, H;  Tan, CZ;  Yuan, J;  Luo, QM;  Hu, XT;  Li, XN;  Gong, H
Adobe PDF(5248Kb)  |  收藏  |  浏览/下载：1497/0  |  提交时间：2023/04/11
Database Resources of the National Genomics Data Center, China National Center for Bioinformation in 2022 期刊论文
NUCLEIC ACIDS RESEARCH, 2022, 卷号: 50, 期号: D1, 页码: D27-D38
作者:  Xue, YB;  Bao, YM;  Zhang, Z;  Zhao, WM;  Xiao, JF;  He, SM;  Zhang, GQ;  Li, YX;  Zhao, GP;  Chen, RS;  Zeng, JY;  Zhang, YD;  Shang, YF;  Mai, JL;  Shi, S;  Lu, MM;  Bu, CF;  Zhang, ZW;  Du, ZL;  Wang, YY;  Kang, HE;  Xu, TY;  Hao, LL;  Jia, PL;  Jiang, S;  Qian, QH;  Zhu, TT;  Shang, YF;  Zong, WT;  Jin, T;  Zhang, YS;  Zou, D;  Zhang, Z;  Du, Q;  Feng, CR;  Ma, LN;  Zhang, SS;  Wang, AK;  Dong, LL;  Wang, YQ;  Liu, W;  Yan, X;  Ling, YC;  Zhao, GP;  Zhou, ZH;  Kang, W;  Zhang, T;  Ma, S;  Yan, HT;  Liu, ZP;  Ji, ZJ;  Cai, YS;  Wang, S;  Song, MS;  Ren, J;  Zhou, Q;  Qu, J;  Zhang, WQ;  Liu, GH;  Chen, X;  Chen, TT;  Zhang, SS;  Sun, YL;  Yu, CX;  Tang, BX;  Zhu, JW;  Zhai, S;  Sun, YB;  Chen, QC;  Yang, XY;  Zhang, X;  Sang, ZQ;  Wang, YG;  Zhao, YL;  Chen, HX;  Lan, L;  Wang, YQ;  Ma, YK;  Jia, YK;  Zheng, XC;  Chen, ML;  Zou, D;  Zhu, TT;  Chen, M;  Niu, GY;  Pan, R;  Jing, W;  Sang, J;  Liu, C;  Xiong, YJ;  Hao, LL;  Zhang, MC;  Wang, GL;  Yi, LZ;  Zhao, W;  Zong, WT;  Wu, S;  Xiong, Z;  Li, RJ;  Gong, Z;  Li, RJ;  Liu, L;  Li, Z;  Li, QP;  Wei, J;  Luo, SC;  Wang, JJ;  Shi, YR;  Zhou, HH;  Zhang, P;  Song, TR;  Li, YY;  Yang, F;  Li, MW;  Li, ZH;  Kang, HG;  Zheng, XC;  Li, RJ;  Tian, DM;  Liu, XN;  Li, CP;  Teng, XF;  Song, SH;  Zhang, Y;  Niu, GY;  Zhu, TT;  Zhang, YS;  Chen, RR;  Zhang, RQ;  Xu, F;  Wang, Y;  Ling, YC;  Zhou, CF;  Wang, HZ;  Teschendorff, AE;  He, YG;  Zhen, Y;  Li, CP;  Zhu, JW;  Li, L;  Li, N;  Gong, Z;  Chen, ML;  Ying, C;  Duan, GY;  Tong, J;  Wu, GG;  Huang, TH;  Jin, EH;  Zhao, W;  Kang, HL;  Wang, ZH;  Zeng, JY;  Chen, H;  Li, MK;  Zhao, WM;  Ning, WS;  Xue, Y;  Liu, YH;  Cui, Y;  Zhou, QJ;  Liu, XY;  Zhang, LL;  Mao, BY;  Zhang, SH;  Zhang, YP;  Wang, GD;  Zhu, QH;  Li, X;  Li, MH;  Liu, YM;  Luo, H;  Wu, XY;  Jing, HC;  Pan, YT;  Chen, M;  Ma, LN;  Shi, LS;  Li, MK;  Lan, L;  Bao, YM;  Zhao, WM;  Zuo, ZX;  Ren, J;  Zhang, XX;  Xiao, Y;  Li, X;  Liu, D;  Zhang, C;  Xue, Y;  Zhao, Z;  Jiang, T;  Wu, WY;  Zhao, FQ;  Meng, XW;  Peng, D;  Luo, H;  Gao, F;  Lin, SF;  Liu, CJ;  Guo, AY;  Yuan, H;  Su, TH;  Zhang, YE;  Zhou, YC;  Zhang, WZ;  Fu, SS;  Tan, XD;  Xie, YB;  Guo, GJ;  Wang, CW;  Liao, XY;  Gao, X;  Wang, JX;  Xie, GY;  Yuan, CH;  Tian, F;  Yang, DC;  Tang, DC;  Wu, WY;  Gou, YJ;  Han, C;  Cui, QH;  Li, XS;  Li, CY;  Luo, XT;  Ren, J;  Li, X
Adobe PDF(1112Kb)  |  收藏  |  浏览/下载：1506/0  |  提交时间：2023/04/12