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Material Type: Artigo
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Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemiaHegele, Robert A ; Johansen, Christopher T ; Wang, Jian ; Lanktree, Matthew B ; Cao, Henian ; McIntyre, Adam D ; Ban, Matthew R ; Martins, Rebecca A ; Kennedy, Brooke A ; Hassell, Reina G ; Visser, Maartje E ; Schwartz, Stephen M ; Voight, Benjamin F ; Elosua, Roberto ; Salomaa, Veikko ; O'Donnell, Christopher J ; Dallinga-Thie, Geesje M ; Anand, Sonia S ; Yusuf, Salim ; Huff, Murray W ; Kathiresan, SekarNature genetics, 2010-08, Vol.42 (8), p.684-687 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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South Asian medical cohorts reveal strong founder effects and high rates of homozygosityWall, Jeffrey D ; Sathirapongsasuti, J Fah ; Gupta, Ravi ; Rasheed, Asif ; Venkatesan, Radha ; Belsare, Saurabh ; Menon, Ramesh ; Phalke, Sameer ; Mittal, Anuradha ; Fang, John ; Tanneeru, Deepak ; Deshmukh, Manjari ; Bassi, Akshi ; Robinson, Jacqueline ; Chaudhary, Ruchi ; Murugan, Sakthivel ; Ul-Asar, Zameer ; Saleem, Imran ; Ishtiaq, Unzila ; Fatima, Areej ; Sheikh, Saqib Shafi ; Hameed, Shahid ; Ishaq, Mohammad ; Rasheed, Syed Zahed ; Memon, Fazal-Ur-Rehman ; Jalal, Anjum ; Abbas, Shahid ; Frossard, Philippe ; Fuchsberger, Christian ; Forer, Lukas ; Schoenherr, Sebastian ; Bei, Qixin ; Bhangale, Tushar ; Tom, Jennifer ; Gadde, Santosh Gopi Krishna ; B V, Priya ; Naik, Naveen Kumar ; Wang, Minxian ; Kwok, Pui-Yan ; Khera, Amit V ; Lakshmi, B R ; Butterworth, Adam S ; Chowdhury, Rajiv ; Danesh, John ; di Angelantonio, Emanuele ; Naheed, Aliya ; Goyal, Vinay ; Kandadai, Rukmini M ; Kumar, Hrishikesh ; Borgohain, Rupam ; Mukherjee, Adreesh ; Wadia, Pettarusp M ; Yadav, Ravi ; Desai, Soaham ; Kumar, Niraj ; Biswas, Atanu ; Pal, Pramod Kumar ; Muthane, Uday B ; Das, Shymal K ; Ramprasad, Vedam L ; Kukkle, Prashanth L ; Seshagiri, Somasekar ; Kathiresan, Sekar ; Ghosh, Arkasubhra ; Mohan, V ; Saleheen, Danish ; Stawiski, Eric W ; Peterson, Andrew SNature communications, 2023-06, Vol.14 (1), p.3377-3377, Article 3377 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studiesKeating, Brendan J ; Tischfield, Sam ; Murray, Sarah S ; Bhangale, Tushar ; Price, Thomas S ; Glessner, Joseph T ; Galver, Luana ; Barrett, Jeffrey C ; Grant, Struan F A ; Farlow, Deborah N ; Chandrupatla, Hareesh R ; Hansen, Mark ; Ajmal, Saad ; Papanicolaou, George J ; Guo, Yiran ; Li, Mingyao ; Derohannessian, Stephanie ; de Bakker, Paul I W ; Bailey, Swneke D ; Montpetit, Alexandre ; Edmondson, Andrew C ; Taylor, Kent ; Gai, Xiaowu ; Wang, Susanna S ; Fornage, Myriam ; Shaikh, Tamim ; Groop, Leif ; Boehnke, Michael ; Hall, Alistair S ; Hattersley, Andrew T ; Frackelton, Edward ; Patterson, Nick ; Chiang, Charleston W K ; Kim, Cecelia E ; Fabsitz, Richard R ; Ouwehand, Willem ; Price, Alkes L ; Munroe, Patricia ; Caulfield, Mark ; Drake, Thomas ; Boerwinkle, Eric ; Reich, David ; Whitehead, A Stephen ; Cappola, Thomas P ; Samani, Nilesh J ; Lusis, A Jake ; Schadt, Eric ; Wilson, James G ; Koenig, Wolfgang ; McCarthy, Mark I ; Kathiresan, Sekar ; Gabriel, Stacey B ; Hakonarson, Hakon ; Anand, Sonia S ; Reilly, Muredach ; Engert, James C ; Nickerson, Deborah A ; Rader, Daniel J ; Hirschhorn, Joel N ; Fitzgerald, Garret A Reitsma, Pieter H.PloS one, 2008-10, Vol.3 (10), p.e3583-e3583 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder PopulationLim, Elaine T ; Würtz, Peter ; Havulinna, Aki S ; Palta, Priit ; Tukiainen, Taru ; Rehnström, Karola ; Esko, Tõnu ; Mägi, Reedik ; Inouye, Michael ; Lappalainen, Tuuli ; Chan, Yingleong ; Salem, Rany M ; Lek, Monkol ; Flannick, Jason ; Sim, Xueling ; Manning, Alisa ; Ladenvall, Claes ; Bumpstead, Suzannah ; Hämäläinen, Eija ; Aalto, Kristiina ; Maksimow, Mikael ; Salmi, Marko ; Blankenberg, Stefan ; Ardissino, Diego ; Shah, Svati ; Horne, Benjamin ; McPherson, Ruth ; Hovingh, Gerald K ; Reilly, Muredach P ; Watkins, Hugh ; Goel, Anuj ; Farrall, Martin ; Girelli, Domenico ; Reiner, Alex P ; Stitziel, Nathan O ; Kathiresan, Sekar ; Gabriel, Stacey ; Barrett, Jeffrey C ; Lehtimäki, Terho ; Laakso, Markku ; Groop, Leif ; Kaprio, Jaakko ; Perola, Markus ; McCarthy, Mark I ; Boehnke, Michael ; Altshuler, David M ; Lindgren, Cecilia M ; Hirschhorn, Joel N ; Metspalu, Andres ; Freimer, Nelson B ; Zeller, Tanja ; Jalkanen, Sirpa ; Koskinen, Seppo ; Raitakari, Olli ; Durbin, Richard ; MacArthur, Daniel G ; Salomaa, Veikko ; Ripatti, Samuli ; Daly, Mark J ; Palotie, AarnoPublic Library of Science 2014Texto completo disponível |
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Material Type: Artigo
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Best Practices and Joint Calling of the HumanExome BeadChip: The CHARGE ConsortiumGrove, Megan L ; Yu, Bing ; Cochran, Barbara J ; Haritunians, Talin ; Bis, Joshua C ; Taylor, Kent D ; Hansen, Mark ; Borecki, Ingrid B ; Cupples, L. Adrienne ; Fornage, Myriam ; Gudnason, Vilmundur ; Harris, Tamara B ; Kathiresan, Sekar ; Kraaij, Robert ; Launer, Lenore J ; Levy, Daniel ; Liu, Yongmei ; Mosley, Thomas ; Peloso, Gina M ; Psaty, Bruce M ; Rich, Stephen S ; Rivadeneira, Fernando ; Siscovick, David S ; Smith, Albert V ; Uitterlinden, Andre ; van Duijn, Cornelia M ; Wilson, James G ; O’Donnell, Christopher J ; Rotter, Jerome I ; Boerwinkle, EricPublic Library of Science 2013Texto completo disponível |
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Material Type: Artigo
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Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarctionLucas, Gavin ; Lluís-Ganella, Carla ; Subirana, Isaac ; Musameh, Muntaser D ; Gonzalez, Juan Ramon ; Nelson, Christopher P ; Sentí, Mariano ; Schwartz, Stephen M ; Siscovick, David ; O'Donnell, Christopher J ; Melander, Olle ; Salomaa, Veikko ; Purcell, Shaun ; Altshuler, David ; Samani, Nilesh J ; Kathiresan, Sekar ; Elosua, Roberto Xiong, MomiaoPloS one, 2012-08, Vol.7 (8), p.e41730-e41730 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Hypothesis-Based Analysis of Gene-Gene Interactions and Risk of Myocardial InfarctionLucas, Gavin ; Lluís-Ganella, Carla ; Subirana, Isaac ; Musameh, Muntaser D ; Gonzalez, Juan Ramon ; Nelson, Christopher P ; Sentí, Mariano ; Schwartz, Stephen M ; Siscovick, David ; O’Donnell, Christopher J ; Melander, Olle ; Salomaa, Veikko ; Samani, Nilesh J ; Kathiresan, Sekar ; Elosua, Roberto ; Purcell, Shaun ; Altshuler, David MatthewPublic Library of Science 2012Texto completo disponível |
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Material Type: Artigo
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Multi-Ethnic Analysis of Lipid-Associated Loci: The NHLBI CARe ProjectRomaine, Simon P. R ; Lettre, Guillaume ; Wilson, James G ; Volcik, Kelly A ; Tsai, Michael Y ; Taylor, Herman A ; Schreiner, Pamela J ; Rotter, Jerome I ; Rich, Stephen S ; Psaty, Bruce M ; Papanicolaou, George J ; Ordovas, Jose M ; Liu, Kiang ; Krauss, Ronald M ; Glazer, Nicole L ; Gabriel, Stacey B ; Fornage, Myriam ; Cupples, L. Adrienne ; Buxbaum, Sarah G ; Boerwinkle, Eric ; Ballantyne, Christie M ; Kathiresan, Sekar ; Rader, Daniel J ; Musunuru, Kiran ; Redline, SusanPublic Library of Science 2012Texto completo disponível |
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Material Type: Artigo
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A brief history of human disease geneticsClaussnitzer, Melina ; Cho, Judy H ; Collins, Rory ; Cox, Nancy J ; Dermitzakis, Emmanouil T ; Hurles, Matthew E ; Kathiresan, Sekar ; Kenny, Eimear E ; Lindgren, Cecilia M ; MacArthur, Daniel G ; North, Kathryn N ; Plon, Sharon E ; Rehm, Heidi L ; Risch, Neil ; Rotimi, Charles N ; Shendure, Jay ; Soranzo, Nicole ; McCarthy, Mark INature (London), 2020-01, Vol.577 (7789), p.179-189 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic VariantsIto, Kaoru ; Bick, Alexander G ; Flannick, Jason ; Friedman, David J ; Genovese, Giulio ; Parfenov, Michael G ; DePalma, Steven R ; Gupta, Namrata ; Gabriel, Stacey B ; Taylor, Herman A ; Fox, Ervin R ; Newton-Cheh, Christopher ; Kathiresan, Sekar ; Hirschhorn, Joel N ; Altshuler, David M ; Pollak, Martin R ; Wilson, James G ; Seidman, J.G ; Seidman, ChristineCirculation research, 2014-02, Vol.114 (5), p.845-850 [Periódico revisado por pares]United States: American Heart Association, IncTexto completo disponível |