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Material Type: Artigo
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A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of AutismArking, Dan E. ; Cutler, David J. ; Brune, Camille W. ; Teslovich, Tanya M. ; West, Kristen ; Ikeda, Morna ; Rea, Alexis ; Guy, Moltu ; Lin, Shin ; Cook, Edwin H. ; Chakravarti, AravindaAmerican journal of human genetics, 2008-01, Vol.82 (1), p.160-164 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Chronic CD4+ T-Cell Activation and Depletion in Human Immunodeficiency Virus Type 1 Infection: Type I Interferon-Mediated Disruption of T-Cell DynamicsSEDAGHAT, Ahmad R ; GERMAN, Jennifer ; TESLOVICH, Tanya M ; COFRANCESCO, Joseph ; JIE, Chunfa C ; CONOVER TALBOT, C ; SILICIANO, Robert FJournal of Virology, 2008-02, Vol.82 (4), p.1870-1883 [Periódico revisado por pares]Washington, DC: American Society for MicrobiologyTexto completo disponível |
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Material Type: Artigo
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Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran ProgramKlarin, Derek ; Damrauer, Scott M ; Cho, Kelly ; Sun, Yan V ; Teslovich, Tanya M ; Honerlaw, Jacqueline ; Gagnon, David R ; DuVall, Scott L ; Li, Jin ; Peloso, Gina M ; Chaffin, Mark ; Small, Aeron M ; Huang, Jie ; Tang, Hua ; Lynch, Julie A ; Ho, Yuk-Lam ; Liu, Dajiang J ; Emdin, Connor A ; Li, Alexander H ; Huffman, Jennifer E ; Lee, Jennifer S ; Natarajan, Pradeep ; Chowdhury, Rajiv ; Saleheen, Danish ; Vujkovic, Marijana ; Baras, Aris ; Pyarajan, Saiju ; Di Angelantonio, Emanuele ; Neale, Benjamin M ; Naheed, Aliya ; Khera, Amit V ; Danesh, John ; Chang, Kyong-Mi ; Abecasis, Gonçalo ; Willer, Cristen ; Dewey, Frederick E ; Carey, David J ; Concato, John ; Gaziano, J Michael ; O'Donnell, Christopher J ; Tsao, Philip S ; Kathiresan, Sekar ; Rader, Daniel J ; Wilson, Peter W F ; Assimes, Themistocles LNature genetics, 2018-11, Vol.50 (11), p.1514-1523 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 ExomesStaples, Jeffrey ; Maxwell, Evan K. ; Gosalia, Nehal ; Gonzaga-Jauregui, Claudia ; Snyder, Christopher ; Hawes, Alicia ; Penn, John ; Ulloa, Ricardo ; Bai, Xiaodong ; Lopez, Alexander E. ; Van Hout, Cristopher V. ; O’Dushlaine, Colm ; Teslovich, Tanya M. ; McCarthy, Shane E. ; Balasubramanian, Suganthi ; Kirchner, H. Lester ; Leader, Joseph B. ; Murray, Michael F. ; Ledbetter, David H. ; Shuldiner, Alan R. ; Yancoupolos, George D. ; Dewey, Frederick E. ; Carey, David J. ; Overton, John D. ; Baras, Aris ; Habegger, Lukas ; Reid, Jeffrey G.American journal of human genetics, 2018-05, Vol.102 (5), p.874-889 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart DiseasePeloso, Gina M ; Nomura, Akihiro ; Khera, Amit V ; Chaffin, Mark ; Won, Hong-Hee ; Ardissino, Diego ; Danesh, John ; Schunkert, Heribert ; Wilson, James G ; Samani, Nilesh ; Erdmann, Jeanette ; McPherson, Ruth ; Watkins, Hugh ; Saleheen, Danish ; McCarthy, Shane ; Teslovich, Tanya M ; Leader, Joseph B ; Lester Kirchner, H ; Marrugat, Jaume ; Nohara, Atsushi ; Kawashiri, Masa-Aki ; Tada, Hayato ; Dewey, Frederick E ; Carey, David J ; Baras, Aris ; Kathiresan, SekarCirculation. Cardiovascular genetics, 2019-05, Vol.12 (5), p.e002376-e002376 [Periódico revisado por pares]United States: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease GeneLi, Jin Billy ; Gerdes, Jantje M ; Haycraft, Courtney J ; Fan, Yanli ; Teslovich, Tanya M ; May-Simera, Helen ; Li, Haitao ; Blacque, Oliver E ; Li, Linya ; Leitch, Carmen C ; Lewis, Richard Allan ; Green, Jane S ; Parfrey, Patrick S ; Leroux, Michel R ; Davidson, William S ; Beales, Philip L ; Guay-Woodford, Lisa M ; Yoder, Bradley K ; Stormo, Gary D ; Katsanis, Nicholas ; Dutcher, Susan KCell, 2004-05, Vol.117 (4), p.541-552 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndromeKatsanis, Nicholas ; Ansley, Stephen J ; Badano, Jose L ; Blacque, Oliver E ; Hill, Josephine ; Hoskins, Bethan E ; Leitch, Carmen C ; Chul Kim, Jun ; Ross, Alison J ; Eichers, Erica R ; Teslovich, Tanya M ; Mah, Allan K ; Johnsen, Robert C ; Cavender, John C ; Alan Lewis, Richard ; Leroux, Michel R ; Beales, Philip LNature, 2003-10, Vol.425 (6958), p.628-633 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controlsMercader, Josep M ; Udler, Miriam S ; Wessel, Jennifer ; Teslovich, Tanya M ; Caulkins, Lizz ; Barajas-Olmos, Francisco ; Boerwinkle, Eric ; Chen, Ling ; Contreras-Cubas, Cecilia ; Córdova, Emilio ; Correa, Adolfo ; DeFronzo, Ralph A ; Dolan, Lawrence ; Elliott, Amanda ; Floyd, James S ; Garay-Sevilla, Maria Eugenia ; García-Ortiz, Humberto ; Heard-Costa, Nancy L ; Jørgensen, Marit E ; Kang, Hyun Min ; Kelsey, Megan ; Linneberg, Allan ; Liu, Ching-Ti ; Liu, Jianjun ; Lyssenko, Valeriya ; Marcketta, Anthony ; Martínez-Hernández, Angélica ; Mayer-Davis, Elizabeth ; Morrison, Alanna C ; Ndungu, Anne ; Ng, Maggie C Y ; O'Dushlaine, Colm ; Post, Wendy S ; Vasan, Ramachandran S ; Rayner, N William ; Revilla-Monsalve, Cristina ; Santoro, Nicola ; Schurmann, Claudia ; Soberón, Xavier ; Strom, Tim M ; Thameem, Farook ; Torres, Jason M ; Vujkovic, Marijana ; Witte, Daniel R ; Atzmon, Gil ; Blangero, John ; Bonnycastle, Lori L ; Chan, Edmund ; Cheng, Ching-Yu ; Collins, Francis S ; de Vries, Paul S ; Glaser, Benjamin ; Gonzalez, Ma Elena ; Groop, Leif ; Kooner, Jaspal Singh ; Kwak, Soo Heon ; Laakso, Markku ; Nilsson, Peter ; Spector, Timothy D ; Tai, E Shyong ; Tuomilehto, Jaakko ; Wilson, James G ; Burke, Brian ; Carey, David J ; Frossard, Philippe ; Hwang, Mi Yeong ; Kim, Young Jin ; Kirchner, H Lester ; Lee, Jong-Young ; Lee, Juyoung ; Loos, Ruth J F ; Ma, Ronald C W ; Morris, Andrew D ; Palmer, Colin N A ; Pankow, James ; Rasheed, Asif ; Saleheen, Danish ; Sim, Xueling ; Small, Kerrin S ; Teo, Yik Ying ; Haiman, Christopher ; Hanis, Craig L ; Dewey, Frederick E ; Baras, Aris ; Gieger, Christian ; Meitinger, Thomas ; Lange, Leslie ; Pedersen, Oluf ; Zeitler, Philip ; Dabelea, Dana ; Abecasis, Goncalo ; Cox, Nancy J ; Sladek, Rob ; Meigs, James B ; Rotter, Jerome I ; Altshuler, David ; Burtt, Noël P ; Morris, Andrew P ; Florez, Jose C ; Boehnke, MichaelNature (London), 2019-06, Vol.570 (7759), p.71-76 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver DiseaseAbul-Husn, Noura S ; Cheng, Xiping ; Li, Alexander H ; Xin, Yurong ; Schurmann, Claudia ; Stevis, Panayiotis ; Liu, Yashu ; Kozlitina, Julia ; Stender, Stefan ; Wood, G. Craig ; Stepanchick, Ann N ; Still, Matthew D ; McCarthy, Shane ; O’Dushlaine, Colm ; Packer, Jonathan S ; Balasubramanian, Suganthi ; Gosalia, Nehal ; Esopi, David ; Kim, Sun Y ; Mukherjee, Semanti ; Lopez, Alexander E ; Fuller, Erin D ; Penn, John ; Chu, Xin ; Luo, Jonathan Z ; Mirshahi, Uyenlinh L ; Carey, David J ; Still, Christopher D ; Feldman, Michael D ; Small, Aeron ; Damrauer, Scott M ; Rader, Daniel J ; Zambrowicz, Brian ; Olson, William ; Murphy, Andrew J ; Borecki, Ingrid B ; Shuldiner, Alan R ; Reid, Jeffrey G ; Overton, John D ; Yancopoulos, George D ; Hobbs, Helen H ; Cohen, Jonathan C ; Gottesman, Omri ; Teslovich, Tanya M ; Baras, Aris ; Mirshahi, Tooraj ; Gromada, Jesper ; Dewey, Frederick EThe New England journal of medicine, 2018-03, Vol.378 (12), p.1096-1106 [Periódico revisado por pares]United States: Massachusetts Medical SocietyTexto completo disponível |
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Material Type: Artigo
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Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular DiseaseDewey, Frederick E ; Gusarova, Viktoria ; Dunbar, Richard L ; O’Dushlaine, Colm ; Schurmann, Claudia ; Gottesman, Omri ; McCarthy, Shane ; Van Hout, Cristopher V ; Bruse, Shannon ; Dansky, Hayes M ; Leader, Joseph B ; Murray, Michael F ; Ritchie, Marylyn D ; Kirchner, H. Lester ; Habegger, Lukas ; Lopez, Alex ; Penn, John ; Zhao, An ; Shao, Weiping ; Stahl, Neil ; Murphy, Andrew J ; Hamon, Sara ; Bouzelmat, Aurelie ; Zhang, Rick ; Shumel, Brad ; Pordy, Robert ; Gipe, Daniel ; Herman, Gary A ; Sheu, Wayne H.H ; Lee, I-Te ; Liang, Kae-Woei ; Guo, Xiuqing ; Rotter, Jerome I ; Chen, Yii-Der I ; Kraus, William E ; Shah, Svati H ; Damrauer, Scott ; Small, Aeron ; Rader, Daniel J ; Wulff, Anders Berg ; Nordestgaard, Børge G ; Tybjærg-Hansen, Anne ; van den Hoek, Anita M ; Princen, Hans M.G ; Ledbetter, David H ; Carey, David J ; Overton, John D ; Reid, Jeffrey G ; Sasiela, William J ; Banerjee, Poulabi ; Shuldiner, Alan R ; Borecki, Ingrid B ; Teslovich, Tanya M ; Yancopoulos, George D ; Mellis, Scott J ; Gromada, Jesper ; Baras, ArisThe New England journal of medicine, 2017-07, Vol.377 (3), p.211-221 [Periódico revisado por pares]United States: Massachusetts Medical SocietyTexto completo disponível |