Clinical application of exome sequencing in undiagnosed genetic conditions
Need, Anna C, Shashi, Vandana, Hitomi, Yuki, Schoch, Kelly, Shianna, Kevin V, McDonald, Marie T, Meisler, Miriam H, Goldstein, David B
Published in Journal of medical genetics (01.06.2012)
Published in Journal of medical genetics (01.06.2012)
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Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis
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
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Natural selection on EPAS1 (HIF2α) associated with low hemoglobin concentration in Tibetan highlanders
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
Published in Proceedings of the National Academy of Sciences - PNAS (22.06.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (22.06.2010)
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Whole-Genome Association Study of Major Determinants for Host Control of HIV-1
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
Published in Science (American Association for the Advancement of Science) (17.08.2007)
Published in Science (American Association for the Advancement of Science) (17.08.2007)
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Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes
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.
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
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A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci
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
Published in PLoS genetics (01.03.2009)
Published in PLoS genetics (01.03.2009)
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Tibetans living at sea level have a hyporesponsive hypoxia-inducible factor system and blunted physiological responses to hypoxia
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
Published in Journal of applied physiology (1985) (01.04.2014)
Published in Journal of applied physiology (1985) (01.04.2014)
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Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction
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
Published in Gastroenterology (New York, N.Y. 1943) (01.10.2010)
Published in Gastroenterology (New York, N.Y. 1943) (01.10.2010)
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Long-Range LD Can Confound Genome Scans in Admixed Populations
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
Published in American journal of human genetics (01.07.2008)
Published in American journal of human genetics (01.07.2008)
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Host Determinants of HIV-1 Control in African Americans
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.
Published in The Journal of infectious diseases (15.04.2010)
Published in The Journal of infectious diseases (15.04.2010)
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Tissue-specific genetic control of splicing: implications for the study of complex traits
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
Published in PLoS biology (01.12.2008)
Published in PLoS biology (01.12.2008)
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Inosine Triphosphate Protects Against Ribavirin-Induced Adenosine Triphosphate Loss by Adenylosuccinate Synthase Function
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
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2011)
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2011)
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Hepatitis C pharmacogenetics: State of the art in 2010
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.
Published in Hepatology (Baltimore, Md.) (01.01.2011)
Published in Hepatology (Baltimore, Md.) (01.01.2011)
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Copy number variation of KIR genes influences HIV-1 control
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
Published in PLoS biology (01.11.2011)
Published in PLoS biology (01.11.2011)
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Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs
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
Published in Pharmacogenetics and genomics (01.11.2012)
Published in Pharmacogenetics and genomics (01.11.2012)
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Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals
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
Published in PLoS pathogens (01.02.2010)
Published in PLoS pathogens (01.02.2010)
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Geographical genomics of human leukocyte gene expression variation in southern Morocco
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
Published in Nature genetics (01.01.2010)
Published in Nature genetics (01.01.2010)
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A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans
Zhu, Qianqian, Ge, Dongliang, Maia, Jessica M., Zhu, Mingfu, Petrovski, Slave, Dickson, Samuel P., Heinzen, Erin L., Shianna, Kevin V., Goldstein, David B.
Published in American journal of human genetics (08.04.2011)
Published in American journal of human genetics (08.04.2011)
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Journal Article
Screening the human exome: a comparison of whole genome and whole transcriptome sequencing
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
Published in Genome biology (01.01.2010)
Published in Genome biology (01.01.2010)
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A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB
Need, Anna C., Attix, Deborah K., McEvoy, Jill M., Cirulli, Elizabeth T., Linney, Kristen L., Hunt, Priscilla, Ge, Dongliang, Heinzen, Erin L., Maia, Jessica M., Shianna, Kevin V., Weale, Michael E., Cherkas, Lynn F., Clement, Gail, Spector, Tim D., Gibson, Greg, Goldstein, David B.
Published in Human molecular genetics (01.12.2009)
Published in Human molecular genetics (01.12.2009)
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