دنبال کردن
Don Conrad
عنوان
نقل شده توسط
نقل شده توسط
سال
A map of human genome variation from population scale sequencing‏
1000 Genomes Project Consortium‏
Nature 467 (7319), 1061, 2010‏
90672010
Global variation in copy number in the human genome‏
R Redon, S Ishikawa, KR Fitch, L Feuk, GH Perry, TD Andrews, H Fiegler, ...‏
nature 444 (7118), 444-454, 2006‏
55292006
Genetic effects on gene expression across human tissues‏
GTEx Consortium Lead analysts: Aguet François 1 Brown Andrew A. 2 3 4 Castel ...‏
Nature 550 (7675), 204-213, 2017‏
36092017
The GTEx Consortium atlas of genetic regulatory effects across human tissues‏
GTEx Consortium‏
Science 369 (6509), 1318-1330, 2020‏
34672020
Origins and functional impact of copy number variation in the human genome‏
DF Conrad, D Pinto, R Redon, L Feuk, O Gokcumen, Y Zhang, J Aerts, ...‏
Nature 464 (7289), 704-712, 2010‏
23142010
Guidelines for investigating causality of sequence variants in human disease‏
DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ...‏
Nature 508 (7497), 469-476, 2014‏
14512014
A systematic survey of loss-of-function variants in human protein-coding genes‏
DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, ...‏
Science 335 (6070), 823-828, 2012‏
14282012
Mapping copy number variation by population-scale genome sequencing‏
RE Mills, K Walter, C Stewart, RE Handsaker, K Chen, C Alkan, A Abyzov, ...‏
Nature 470 (7332), 59-65, 2011‏
13332011
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls‏
Nature 464 (7289), 713-720, 2010‏
9412010
The impact of sex on gene expression across human tissues‏
M Oliva, M Muñoz-Aguirre, S Kim-Hellmuth, V Wucher, ADH Gewirtz, ...‏
Science 369 (6509), eaba3066, 2020‏
8952020
A high-resolution survey of deletion polymorphism in the human genome‏
DF Conrad, TD Andrews, NP Carter, ME Hurles, JK Pritchard‏
Nature genetics 38 (1), 75-81, 2006‏
8782006
Recurrent 16p11. 2 microdeletions in autism‏
RA Kumar, S KaraMohamed, J Sudi, DF Conrad, C Brune, JA Badner, ...‏
Human molecular genetics 17 (4), 628-638, 2008‏
8452008
Demographic history and rare allele sharing among human populations‏
S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ...‏
Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011‏
7472011
Variation in genome-wide mutation rates within and between human families‏
Nature genetics 43 (7), 712-714, 2011‏
7062011
A worldwide survey of haplotype variation and linkage disequilibrium in the human genome‏
DF Conrad, M Jakobsson, G Coop, X Wen, JD Wall, NA Rosenberg, ...‏
Nature genetics 38 (11), 1251-1260, 2006‏
6222006
Dynamic landscape and regulation of RNA editing in mammals‏
MH Tan, Q Li, R Shanmugam, R Piskol, J Kohler, AN Young, KI Liu, ...‏
Nature 550 (7675), 249-254, 2017‏
6152017
The impact of structural variation on human gene expression‏
C Chiang, AJ Scott, JR Davis, EK Tsang, X Li, Y Kim, T Hadzic, ...‏
Nature genetics 49 (5), 692-699, 2017‏
4512017
Towards a comprehensive structural variation map of an individual human genome‏
AW Pang, JR MacDonald, D Pinto, J Wei, MA Rafiq, DF Conrad, H Park, ...‏
Genome biology 11, 1-14, 2010‏
4102010
A quantitative proteome map of the human body‏
L Jiang, M Wang, S Lin, R Jian, X Li, J Chan, G Dong, H Fang, ...‏
Cell 183 (1), 269-283. e19, 2020‏
3842020
Effect of predicted protein-truncating genetic variants on the human transcriptome‏
MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ...‏
Science 348 (6235), 666-669, 2015‏
3702015
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مقاله‌ها 1–20