Clinical application of exome sequencing in undiagnosed genetic conditions von Need, Anna C, Shashi, Vandana, Hitomi, Yuki, Schoch, Kelly, Shianna, Kevin V, McDonald, Marie T, Meisler, Miriam H, Goldstein, David B

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Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis von Oz-Levi, Danit, Ben-Zeev, Bruria, Ruzzo, Elizabeth K., Hitomi, Yuki, Gelman, Amir, Pelak, Kimberly, Anikster, Yair, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Olender, Tsviya, Alkelai, Anna, Weiss, Meira, Ben-Asher, Edna, Ge, Dongliang, Shianna, Kevin V., Elazar, Zvulun, Goldstein, David B., Pras, Elon, Lancet, Doron

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Natural selection on EPAS1 (HIF2α) associated with low hemoglobin concentration in Tibetan highlanders von Beall, Cynthia M, Cavalleri, Gianpiero L, Deng, Libin, Elston, Robert C, Gao, Yang, Knight, Jo, Li, Chaohua, Li, Jiang Chuan, Liang, Yu, McCormack, Mark, Montgomery, Hugh E, Pan, Hao, Robbins, Peter A, Shianna, Kevin V, Tam, Siu Cheung, Tsering, Ngodrop, Veeramah, Krishna R, Wang, Wei, Wangdui, Puchung, Weale, Michael E, Xu, Yaomin, Xu, Zhe, Yang, Ling, Zaman, M. Justin, Zeng, Changqing, Zhang, Li, Zhang, Xianglong, Zhaxi, Pingcuo, Zheng, Yong Tang

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Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes von Zhu, Mingfu, Need, Anna C., Han, Yujun, Ge, Dongliang, Maia, Jessica M., Zhu, Qianqian, Heinzen, Erin L., Cirulli, Elizabeth T., Pelak, Kimberly, He, Min, Ruzzo, Elizabeth K., Gumbs, Curtis, Singh, Abanish, Feng, Sheng, Shianna, Kevin V., Goldstein, David B.

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A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci von Pillai, Sreekumar G, Ge, Dongliang, Zhu, Guohua, Kong, Xiangyang, Shianna, Kevin V, Need, Anna C, Feng, Sheng, Hersh, Craig P, Bakke, Per, Gulsvik, Amund, Ruppert, Andreas, Lødrup Carlsen, Karin C, Roses, Allen, Anderson, Wayne, Rennard, Stephen I, Lomas, David A, Silverman, Edwin K, Goldstein, David B

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Whole-Genome Association Study of Major Determinants for Host Control of HIV-1 von Fellay, Jacques, Shianna, Kevin V, Ge, Dongliang, Colombo, Sara, Ledergerber, Bruno, Weale, Mike, Zhang, Kunlin, Gumbs, Curtis, Castagna, Antonella, Cossarizza, Andrea, Cozzi-Lepri, Alessandro, De Luca, Andrea, Easterbrook, Philippa, Francioli, Patrick, Mallal, Simon, Martinez-Picado, Javier, Miro, José M, Obel, Niels, Smith, Jason P, Wyniger, Josiane, Descombes, Patrick, Antonarakis, Stylianos E, Letvin, Norman L, McMichael, Andrew J, Haynes, Barton F, Telenti, Amalio, Goldstein, David B

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Tibetans living at sea level have a hyporesponsive hypoxia-inducible factor system and blunted physiological responses to hypoxia von Petousi, Nayia, Croft, Quentin P P, Cavalleri, Gianpiero L, Cheng, Hung-Yuan, Formenti, Federico, Ishida, Koji, Lunn, Daniel, McCormack, Mark, Shianna, Kevin V, Talbot, Nick P, Ratcliffe, Peter J, Robbins, Peter A

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Tissue-specific genetic control of splicing: implications for the study of complex traits von Heinzen, Erin L, Ge, Dongliang, Cronin, Kenneth D, Maia, Jessica M, Shianna, Kevin V, Gabriel, Willow N, Welsh-Bohmer, Kathleen A, Hulette, Christine M, Denny, Thomas N, Goldstein, David B

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Long-Range LD Can Confound Genome Scans in Admixed Populations von Price, Alkes L., Weale, Michael E., Patterson, Nick, Myers, Simon R., Need, Anna C., Shianna, Kevin V., Ge, Dongliang, Rotter, Jerome I., Torres, Esther, Taylor, Kent D., Goldstein, David B., Reich, David

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Host Determinants of HIV-1 Control in African Americans von Pelak, Kimberly, Goldstein, David B., Walley, Nicole M., Fellay, Jacques, Ge, Dongliang, Shianna, Kevin V., Gumbs, Curtis, Gao, Xiaojiang, Maia, Jessica M., Cronin, Kenneth D., Hussain, Shehnaz K., Carrington, Mary, Michael, Nelson L., Weintrob, Amy C.

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Variants in the ITPA Gene Protect Against Ribavirin-Induced Hemolytic Anemia and Decrease the Need for Ribavirin Dose Reduction von Thompson, Alexander J, Fellay, Jacques, Patel, Keyur, Tillmann, Hans L, Naggie, Susanna, Ge, Dongliang, Urban, Thomas J, Shianna, Kevin V, Muir, Andrew J, Fried, Michael W, Afdhal, Nezam H, Goldstein, David B, McHutchison, John G

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Copy number variation of KIR genes influences HIV-1 control von Pelak, Kimberly, Need, Anna C, Fellay, Jacques, Shianna, Kevin V, Feng, Sheng, Urban, Thomas J, Ge, Dongliang, De Luca, Andrea, Martinez-Picado, Javier, Wolinsky, Steven M, Martinson, Jeremy J, Jamieson, Beth D, Bream, Jay H, Martin, Maureen P, Borrow, Persephone, Letvin, Norman L, McMichael, Andrew J, Haynes, Barton F, Telenti, Amalio, Carrington, Mary, Goldstein, David B, Alter, Galit

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Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene von Sobreira, Nara L M, Cirulli, Elizabeth T, Avramopoulos, Dimitrios, Wohler, Elizabeth, Oswald, Gretchen L, Stevens, Eric L, Ge, Dongliang, Shianna, Kevin V, Smith, Jason P, Maia, Jessica M, Gumbs, Curtis E, Pevsner, Jonathan, Thomas, George, Valle, David, Hoover-Fong, Julie E, Goldstein, David B

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Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals von Rotger, Margalida, Dang, Kristen K, Fellay, Jacques, Heinzen, Erin L, Feng, Sheng, Descombes, Patrick, Shianna, Kevin V, Ge, Dongliang, Günthard, Huldrych F, Goldstein, David B, Telenti, Amalio

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Inosine Triphosphate Protects Against Ribavirin-Induced Adenosine Triphosphate Loss by Adenylosuccinate Synthase Function von Hitomi, Yuki, Cirulli, Elizabeth T, Fellay, Jacques, McHutchison, John G, Thompson, Alexander J, Gumbs, Curtis E, Shianna, Kevin V, Urban, Thomas J, Goldstein, David B

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Hepatitis C pharmacogenetics: State of the art in 2010 von Afdhal, Nezam H., McHutchison, John G., Zeuzem, Stefan, Mangia, Alessandra, Pawlotsky, Jean‐Michel, Murray, Jeffrey S., Shianna, Kevin V., Tanaka, Yasuhito, Thomas, David L., Booth, David R., Goldstein, David B.

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Screening the human exome: a comparison of whole genome and whole transcriptome sequencing von Cirulli, Elizabeth T, Singh, Abanish, Shianna, Kevin V, Ge, Dongliang, Smith, Jason P, Maia, Jessica M, Heinzen, Erin L, Goedert, James J, Goldstein, David B

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Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs von Urban, Thomas J, Shen, Yufeng, Stolz, Andrew, Chalasani, Naga, Fontana, Robert J, Rochon, James, Ge, Dongliang, Shianna, Kevin V, Daly, Ann K, Lucena, M Isabel, Nelson, Matthew R, Molokhia, Mariam, Aithal, Guruprasad P, Floratos, Aris, Pe’er, Itsik, Serrano, Jose, Bonkovsky, Herbert, Davern, Timothy J, Lee, William M, Navarro, Victor J, Talwalkar, Jayant A, Goldstein, David B, Watkins, Paul B

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Geographical genomics of human leukocyte gene expression variation in southern Morocco von Lee, Sang H, Jadallah, Sami J, Wolfinger, Russell D, Gibson, Greg, Visscher, Peter M, Miclaus, Kelci, Goldstein, David B, Martin, Hilary C, Idaghdour, Youssef, Czika, Wendy, Shianna, Kevin V

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A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans von Zhu, Qianqian, Ge, Dongliang, Maia, Jessica M., Zhu, Mingfu, Petrovski, Slave, Dickson, Samuel P., Heinzen, Erin L., Shianna, Kevin V., Goldstein, David B.

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