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  • 7 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genome Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Proteins Medicine & Life Sciences
Population Medicine & Life Sciences
Transcription Factors Medicine & Life Sciences
DNA Sequence Analysis Medicine & Life Sciences

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Grants 1997 2022

Research Output 1982 2015

  • 5888 Citations
  • 29 h-Index
  • 44 Article
  • 2 Review article
  • 1 Comment/debate
  • 1 Letter
1178 Citations

A global reference for human genetic variation

Auton, A. , Abecasis, G. R. , Altshuler, D. M. , Durbin, R. M. , Bentley, D. R. , Chakravarti, A. , Clark, A. G. , Donnelly, P. , Eichler, E. E. , Flicek, P. , Gabriel, S. B. , Gibbs, R. A. , Green, E. D. , Hurles, M. E. , Knoppers, B. M. , Korbel, J. O. , Lander, E. S. , Lee, C. , Lehrach, H. , Mardis, E. R. & 457 others Marth, G. T., McVean, G. A., Nickerson, D. A., Schmidt, J. P., Sherry, S. T., Wang, J., Wilson, R. K., Boerwinkle, E., Doddapaneni, H., Han, Y., Korchina, V., Kovar, C., Lee, S., Muzny, D., Reid, J. G., Zhu, Y., Chang, Y., Feng, Q., Fang, X., Guo, X., Jian, M., Jiang, H., Jin, X., Lan, T., Li, G., Li, J., Li, Y., Liu, S., Liu, X., Lu, Y., Ma, X., Tang, M., Wang, B., Wang, G., Wu, H., Wu, R., Xu, X., Yin, Y., Zhang, D., Zhang, W., Zhao, J., Zhao, M., Zheng, X., Gupta, N., Gharani, N., Toji, L. H., Gerry, N. P., Resch, A. M., Barker, J., Clarke, L., Gil, L., Hunt, S. E., Kelman, G., Kulesha, E., Leinonen, R., McLaren, W. M., Radhakrishnan, R., Roa, A., Smirnov, D., Smith, R. E., Streeter, I., Thormann, A., Toneva, I., Vaughan, B., Zheng-Bradley, X., Grocock, R., Humphray, S., James, T., Kingsbury, Z., Sudbrak, R., Albrecht, M. W., Amstislavskiy, V. S., Borodina, T. A., Lienhard, M., Mertes, F., Sultan, M., Timmermann, B., Yaspo, M. L., Fulton, L., Ananiev, V., Belaia, Z., Beloslyudtsev, D., Bouk, N., Chen, C., Church, D., Cohen, R., Cook, C., Garner, J., Hefferon, T., Kimelman, M., Liu, C., Lopez, J., Meric, P., O'Sullivan, C., Ostapchuk, Y., Phan, L., Ponomarov, S., Schneider, V., Shekhtman, E., Sirotkin, K., Slotta, D., Zhang, H., Balasubramaniam, S., Burton, J., Danecek, P., Keane, T. M., Kolb-Kokocinski, A., McCarthy, S., Stalker, J., Quail, M., Davies, C. J., Gollub, J., Webster, T., Wong, B., Zhan, Y., Campbell, C. L., Kong, Y., Marcketta, A., Yu, F., Antunes, L., Bainbridge, M., Sabo, A., Huang, Z., Coin, L. J. M., Fang, L., Li, Q., Li, Z., Lin, H., Liu, B., Luo, R., Shao, H., Xie, Y., Ye, C., Yu, C., Zhang, F., Zheng, H., Zhu, H., Alkan, C., Dal, E., Kahveci, F., Garrison, E. P., Kural, D., Lee, W. P., Leong, W. F., Stromberg, M., Ward, A. N., Wu, J., Zhang, M., Daly, M. J., DePristo, M. A., Handsaker, R. E., Banks, E., Bhatia, G., Del Angel, G., Genovese, G., Li, H., Kashin, S., McCarroll, S. A., Nemesh, J. C., Poplin, R. E., Yoon, S. C., Lihm, J., Makarov, V., Gottipati, S., Keinan, A., Rodriguez-Flores, J. L., Rausch, T., Fritz, M. H., Stütz, A. M., Beal, K., Datta, A., Herrero, J., Ritchie, G. R. S., Zerbino, D., Sabeti, P. C., Shlyakhter, I., Schaffner, S. F., Vitti, J., Cooper, D. N., Ball, E. V., Stenson, P. D., Barnes, B., Bauer, M., Cheetham, R. K., Cox, A., Eberle, M., Kahn, S., Murray, L., Peden, J., Shaw, R., Kenny, E. E., Batzer, M. A., Konkel, M. K., Walker, J. A., MacArthur, D. G., Lek, M., Herwig, R., Ding, L., Koboldt, D. C., Larson, D., Ye, K., Gravel, S., Swaroop, A., Chew, E., Lappalainen, T., Erlich, Y., Gymrek, M., Willems, T. F., Simpson, J. T., Shriver, M. D., Rosenfeld, J. A., Bustamante, C. D., Montgomery, S. B., De La Vega, F. M., Byrnes, J. K., Carroll, A. W., DeGorter, M. K., Lacroute, P., Maples, B. K., Martin, A. R., Moreno-Estrada, A., Shringarpure, S. S., Zakharia, F., Halperin, E., Baran, Y., Cerveira, E., Hwang, J., Malhotra, A., Plewczynski, D., Radew, K., Romanovitch, M., Zhang, C., Hyland, F. C. L., Craig, D. W., Christoforides, A., Homer, N., Izatt, T., Kurdoglu, A. A., Sinari, S. A., Squire, K., Xiao, C., Sebat, J., Antaki, D., Gujral, M., Noor, A., Ye, K., Burchard, E. G., Hernandez, R. D., Gignoux, C. R., Haussler, D., Katzman, S. J., Kent, W. J., Howie, B., Ruiz-Linares, A., Dermitzakis, E. T., Devine, S. E., Kang, H. M., Kidd, J. M., Blackwell, T., Caron, S., Chen, W., Emery, S., Fritsche, L., Fuchsberger, C., Jun, G., Li, B., Lyons, R., Scheller, C., Sidore, C., Song, S., Sliwerska, E., Taliun, D., Tan, A., Welch, R., Wing, M. K., Zhan, X., Awadalla, P., Hodgkinson, A., Li, Y., Shi, X., Quitadamo, A., Lunter, G., Marchini, J. L., Myers, S., Churchhouse, C., Delaneau, O., Gupta-Hinch, A., Kretzschmar, W., Iqbal, Z., Mathieson, I., Menelaou, A., Rimmer, A., Xifara, D. K., Oleksyk, T. K., Fu, Y., Liu, X., Xiong, M., Jorde, L., Witherspoon, D., Xing, J., Browning, B. L., Browning, S. R., Hormozdiari, F., Sudmant, P. H., Khurana, E., Tyler-Smith, C., Albers, C. A., Ayub, Q., Chen, Y., Colonna, V., Jostins, L., Walter, K., Xue, Y., Gerstein, M. B., Abyzov, A., Balasubramanian, S., Chen, J., Clarke, D., Fu, Y., Harmanci, A. O., Jin, M., Lee, D., Liu, J., Mu, X. J., Zhang, J., Zhang, Y., Hartl, C., Shakir, K., Degenhardt, J., Meiers, S., Raeder, B., Casale, F. P., Stegle, O., Lameijer, E. W., Hall, I., Bafna, V., Michaelson, J., Gardner, E. J., Mills, R. E., Dayama, G., Chen, K., Fan, X., Chong, Z., Chen, T., Chaisson, M. J., Huddleston, J., Malig, M., Nelson, B. J., Parrish, N. F., Blackburne, B., Lindsay, S. J., Ning, Z., Zhang, Y., Lam, H., Sisu, C., Challis, D., Evani, U. S., Lu, J., Nagaswamy, U., Yu, J., Li, W., Habegger, L., Yu, H., Cunningham, F., Dunham, I., Lage, K., Jespersen, J. B., Horn, H., Kim, D., Desalle, R., Narechania, A., Sayres, M. A. W., Mendez, F. L., Poznik, G. D., Underhill, P. A., Mittelman, D., Banerjee, R., Cerezo, M., Fitzgerald, T. W., Louzada, S., Massaia, A., Yang, F., Kalra, D., Hale, W., Dan, X., Barnes, K. C., Beiswanger, C., Cai, H., Cao, H., Henn, B., Jones, D., Kaye, J. S., Kent, A., Kerasidou, A., Mathias, R., Ossorio, P. N., Parker, M., Rotimi, C. N., Royal, C. D., Sandoval, K., Su, Y., Tian, Z., Tishkoff, S., Via, M., Wang, Y., Yang, H., Yang, L., Zhu, J., Bodmer, W., Bedoya, G., Cai, Z., Gao, Y., Chu, J., Peltonen, L., Garcia-Montero, A., Orfao, A., Dutil, J., Martinez-Cruzado, J. C., Mathias, R. A., Hennis, A., Watson, H., McKenzie, C., Qadri, F., LaRocque, R., Deng, X., Asogun, D., Folarin, O., Happi, C., Omoniwa, O., Stremlau, M., Tariyal, R., Jallow, M., Joof, F. S., Corrah, T., Rockett, K., Kwiatkowski, D., Kooner, J., Hien, T. T., Dunstan, S. J., ThuyHang, N., Fonnie, R., Garry, R., Kanneh, L., Moses, L., Schieffelin, J., Grant, D. S., Gallo, C., Poletti, G., Saleheen, D., Rasheed, A., Brooks, L. D., Felsenfeld, A. L., McEwen, J. E., Vaydylevich, Y., Duncanson, A., Dunn, M. & Schloss, J. A. Sep 30 2015 In : Nature. 526, 7571, p. 68-74 7 p.

Research output: Research - peer-reviewReview article

Medical Genetics
Genome
Single Nucleotide Polymorphism
Population
Exome

Evaluation of commercially available RNA amplification kits for RNA sequencing using very low input amounts of total RNA

Shanker, S., Paulson, A., Edenberg, H. J., Peak, A., Perera, A., Alekseyev, Y. O., Beckloff, N., Bivens, N. J., Donnelly, R., Gillaspy, A. F., Grove, D., Gu, W., Jafari, N., Kerley-Hamilton, J. S., Lyons, R. H., Tepper, C. & Nicolet, C. M. Jan 1 2015 In : Journal of Biomolecular Techniques. 26, 1, p. 4-18 15 p.

Research output: Research - peer-reviewArticle

RNA Sequence Analysis
RNA
Libraries
Gene Expression Profiling
Complementary DNA
10 Citations

Evaluation of portability and cost of a fluorescent PCR ribotyping protocol for Clostridium difficile epidemiology

Martinson, J. N. V., Broadaway, S., Lohman, E., Johnson, C., Alam, M. J., Khaleduzzaman, M., Garey, K. W., Schlackman, J., Young, V. B., Santhosh, K., Raod, K., Lyons, R. H. & Walk, S. T. Apr 1 2015 In : Journal of Clinical Microbiology. 53, 4, p. 1192-1238 47 p.

Research output: Research - peer-reviewArticle

Ribotyping
Clostridium difficile
Epidemiology
Costs and Cost Analysis
Polymerase Chain Reaction
44 Citations

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

Sidore, C. , Busonero, F. , Maschio, A. , Porcu, E. , Naitza, S. , Zoledziewska, M. , Mulas, A. , Pistis, G. , Steri, M. , Danjou, F. , Kwong, A. , Del Vecchyo, V. D. O. , Chiang, C. W. K. , Bragg-Gresham, J. , Pitzalis, M. , Nagaraja, R. , Tarrier, B. , Brennan, C. , Uzzau, S. , Fuchsberger, C. & 20 others Atzeni, R., Reinier, F., Berutti, R., Huang, J., Timpson, N. J., Toniolo, D., Gasparini, P., Malerba, G., Dedoussis, G., Zeggini, E., Soranzo, N., Jones, C., Lyons, R., Angius, A., Kang, H. M., Novembre, J., Sanna, S., Schlessinger, D., Cucca, F. & Abecasis, G. R. Nov 1 2015 In : Nature Genetics. 47, 11, p. 1272-1281 10 p.

Research output: Research - peer-reviewArticle

Genome
Lipids
Biomarkers
Population
19 Citations

Height-reducing variants and selection for short stature in Sardinia

Zoledziewska, M. , Sidore, C. , Chiang, C. W. K. , Sanna, S. , Mulas, A. , Steri, M. , Busonero, F. , Marcus, J. H. , Marongiu, M. , Maschio, A. , Del Vecchyo, D. O. , Floris, M. , Meloni, A. , Delitala, A. , Concas, M. P. , Murgia, F. , Biino, G. , Vaccargiu, S. , Nagaraja, R. , Lohmueller, K. E. & 13 others Timpson, N. J., Soranzo, N., Tachmazidou, I., Dedoussis, G., Zeggini, E., Uzzau, S., Jones, C., Lyons, R., Angius, A., Abecasis, G. R., Novembre, J., Schlessinger, D. & Cucca, F. Nov 1 2015 In : Nature Genetics. 47, 11, p. 1352-1356 5 p.

Research output: Research - peer-reviewArticle

Italy
Islands
Genes
Laron Syndrome
Genetic Drift