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Material Type: Artigo
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The Contribution of Low-Frequency and Rare Coding Variation to Susceptibility to Type 2 DiabetesFlannick, JasonCurrent diabetes reports, 2019-05, Vol.19 (5), p.25-10, Article 25 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysisUdler, Miriam S ; Kim, Jaegil ; von Grotthuss, Marcin ; Bonàs-Guarch, Sílvia ; Cole, Joanne B ; Chiou, Joshua ; Boehnke, Michael ; Laakso, Markku ; Atzmon, Gil ; Glaser, Benjamin ; Mercader, Josep M ; Gaulton, Kyle ; Flannick, Jason ; Getz, Gad ; Florez, Jose C Langenberg, ClaudiaPLoS medicine, 2018-09, Vol.15 (9), p.e1002654-e1002654 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Age-Related Clonal Hematopoiesis Associated with Adverse OutcomesJaiswal, Siddhartha ; Fontanillas, Pierre ; Flannick, Jason ; Manning, Alisa ; Grauman, Peter V ; Mar, Brenton G ; Lindsley, R. Coleman ; Mermel, Craig H ; Burtt, Noel ; Chavez, Alejandro ; Higgins, John M ; Moltchanov, Vladislav ; Kuo, Frank C ; Kluk, Michael J ; Henderson, Brian ; Kinnunen, Leena ; Koistinen, Heikki A ; Ladenvall, Claes ; Getz, Gad ; Correa, Adolfo ; Banahan, Benjamin F ; Gabriel, Stacey ; Kathiresan, Sekar ; Stringham, Heather M ; McCarthy, Mark I ; Boehnke, Michael ; Tuomilehto, Jaakko ; Haiman, Christopher ; Groop, Leif ; Atzmon, Gil ; Wilson, James G ; Neuberg, Donna ; Altshuler, David ; Ebert, Benjamin LThe New England journal of medicine, 2014-12, Vol.371 (26), p.2488-2498 [Periódico revisado por pares]Waltham, MA: Massachusetts Medical SocietyTexto completo disponível |
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Material Type: Artigo
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Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypesFlannick, Jason ; Johansson, Stefan ; Njølstad, Pål RNature reviews. Endocrinology, 2016-07, Vol.12 (7), p.394-406 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Leveraging type 1 diabetes human genetic and genomic data in the T1D knowledge portalKudtarkar, Parul ; Costanzo, Maria C ; Sun, Ying ; Jang, Dongkeun ; Koesterer, Ryan ; Mychaleckyj, Josyf C ; Nayak, Uma ; Onengut-Gumuscu, Suna ; Rich, Stephen S ; Flannick, Jason A ; Gaulton, Kyle J ; Burtt, Noël PPLoS biology, 2023-08, Vol.21 (8), p.e3002233-e3002233 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Patterns and rates of exonic de novo mutations in autism spectrum disordersNEALE, Benjamin M ; YAN KOU ; POLAK, Paz ; YOON, Seungtai ; MAGUIRE, Jared ; CRAWFORD, Emily L ; CAMPBELL, Nicholas G ; GEHER, Evan T ; VALLADARES, Otto ; SCHAFER, Chad ; LIUL, Han ; TUO ZHAO ; LI LIU ; GUIQING CAI ; LIHM, Jayon ; DANNENFELSER, Ruth ; JABADO, Omar ; PERALTA, Zuleyma ; NAGASWAMY, Uma ; MUZNY, Donna ; REID, Jeffrey G ; NEWSHAM, Irene ; YUANQING WU ; MA'AYAN, Avi ; LEWIS, Lora ; YI HAN ; VOIGHT, Benjamin F ; LIM, Elaine ; ROSSIN, Elizabeth ; KIRBY, Andrew ; FLANNICK, Jason ; FROMER, Menachem ; SHAKIR, Khalid ; FENNELL, Tim ; SAMOCHA, Kaitlin E ; GARIMELLA, Kiran ; BANKS, Eric ; POPLIN, Ryan ; GABRIEL, Stacey ; DEPRISTO, Mark ; WIMBISH, Jack R ; BOONE, Braden E ; LEVY, Shawn E ; BETANCUR, Catalina ; SUNYAEV, Shamil ; SABO, Aniko ; BOERWINKLE, Eric ; BUXBAUM, Joseph D ; COOK, Edwin H ; DEVLIN, Bernie ; GIBBS, Richard A ; ROEDER, Kathryn ; SCHELLENBERG, Gerard D ; SUTCLIFFE, James S ; DALY, Mark J ; LIN, Chiao-Feng ; STEVENS, Christine ; WANG, Li-San ; MAKAROV, VladimirNature (London), 2012-05, Vol.485 (7397), p.242-245 [Periódico revisado por pares]London: Nature Publishing GroupTexto 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, Aarno Cutler, DavidPLoS genetics, 2014-07, Vol.10 (7), p.e1004494-e1004494 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Loss of ZnT8 function protects against diabetes by enhanced insulin secretionDwivedi, Om Prakash ; Lehtovirta, Mikko ; Hastoy, Benoit ; Chandra, Vikash ; Krentz, Nicole A J ; Kleiner, Sandra ; Jain, Deepak ; Richard, Ann-Marie ; Abaitua, Fernando ; Beer, Nicola L ; Grotz, Antje ; Prasad, Rashmi B ; Hansson, Ola ; Ahlqvist, Emma ; Krus, Ulrika ; Artner, Isabella ; Suoranta, Anu ; Gomez, Daniel ; Baras, Aris ; Champon, Benoite ; Payne, Anthony J ; Moralli, Daniela ; Thomsen, Soren K ; Kramer, Philipp ; Spiliotis, Ioannis ; Ramracheya, Reshma ; Chabosseau, Pauline ; Theodoulou, Andria ; Cheung, Rebecca ; van de Bunt, Martijn ; Flannick, Jason ; Trombetta, Maddalena ; Bonora, Enzo ; Wolheim, Claes B ; Sarelin, Leena ; Bonadonna, Riccardo C ; Rorsman, Patrik ; Davies, Benjamin ; Brosnan, Julia ; McCarthy, Mark I ; Otonkoski, Timo ; Lagerstedt, Jens O ; Rutter, Guy A ; Gromada, Jesper ; Gloyn, Anna L ; Tuomi, Tiinamaija ; Groop, LeifNature genetics, 2019-11, Vol.51 (11), p.1596-1606 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and diseaseRoberts, Angharad M ; Ware, James S ; Herman, Daniel S ; Schafer, Sebastian ; Baksi, John ; Bick, Alexander G ; Buchan, Rachel J ; Walsh, Roddy ; John, Shibu ; Wilkinson, Samuel ; Mazzarotto, Francesco ; Felkin, Leanne E ; Gong, Sungsam ; MacArthur, Jacqueline A L ; Cunningham, Fiona ; Flannick, Jason ; Gabriel, Stacey B ; Altshuler, David M ; Macdonald, Peter S ; Heinig, Matthias ; Keogh, Anne M ; Hayward, Christopher S ; Banner, Nicholas R ; Pennell, Dudley J ; O'Regan, Declan P ; San, Tan Ru ; de Marvao, Antonio ; Dawes, Timothy J W ; Gulati, Ankur ; Birks, Emma J ; Yacoub, Magdi H ; Radke, Michael ; Gotthardt, Michael ; Wilson, James G ; O'Donnell, Christopher J ; Prasad, Sanjay K ; Barton, Paul J R ; Fatkin, Diane ; Hubner, Norbert ; Seidman, Jonathan G ; Seidman, Christine E ; Cook, Stuart AScience translational medicine, 2015-01, Vol.7 (270), p.270ra6-270ra6 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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An effector index to predict target genes at GWAS lociForgetta, Vincenzo ; Jiang, Lai ; Vulpescu, Nicholas A. ; Hogan, Megan S. ; Chen, Siyuan ; Morris, John A. ; Grinek, Stepan ; Benner, Christian ; Jang, Dong-Keun ; Hoang, Quy ; Burtt, Noel ; Flannick, Jason A. ; McCarthy, Mark I. ; Fauman, Eric ; Greenwood, Celia M. T. ; Maurano, Matthew T. ; Richards, J. BrentHuman genetics, 2022-08, Vol.141 (8), p.1431-1447 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |