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A structural variation reference for medical and population genetics
A structural variation reference for medical and population genetics
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A structural variation reference for medical and population genetics

Collins, Ryan L ; Brand, Harrison ; Karczewski, Konrad J ; Zhao, Xuefang ; Alföldi, Jessica ; Francioli, Laurent C ; Khera, Amit V ; Lowther, Chelsea ; Gauthier, Laura D ; Wang, Harold ; Watts, Nicholas A ; Solomonson, Matthew ; O'Donnell-Luria, Anne ; Baumann, Alexander ; Munshi, Ruchi ; Walker, Mark ; Whelan, Christopher W ; Huang, Yongqing ; Brookings, Ted ; Sharpe, Ted ; Stone, Matthew R ; Valkanas, Elise ; Fu, Jack ; Tiao, Grace ; Laricchia, Kristen M ; Ruano-Rubio, Valentin ; Stevens, Christine ; Gupta, Namrata ; Cusick, Caroline ; Margolin, Lauren ; Taylor, Kent D ; Lin, Henry J ; Rich, Stephen S ; Post, Wendy S ; Chen, Yii-Der Ida ; Rotter, Jerome I ; Nusbaum, Chad ; Philippakis, Anthony ; Lander, Eric ; Gabriel, Stacey ; Neale, Benjamin M ; Kathiresan, Sekar ; Daly, Mark J ; Banks, Eric ; MacArthur, Daniel G ; Talkowski, Michael E

Nature (London), 2020-05, Vol.581 (7809), p.444-451 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland
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Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

Martin, Alicia R. ; Karczewski, Konrad J. ; Kerminen, Sini ; Kurki, Mitja I. ; Sarin, Antti-Pekka ; Artomov, Mykyta ; Eriksson, Johan G. ; Esko, Tõnu ; Genovese, Giulio ; Havulinna, Aki S. ; Kaprio, Jaakko ; Konradi, Alexandra ; Korányi, László ; Kostareva, Anna ; Männikkö, Minna ; Metspalu, Andres ; Perola, Markus ; Prasad, Rashmi B. ; Raitakari, Olli ; Rotar, Oxana ; Salomaa, Veikko ; Groop, Leif ; Palotie, Aarno ; Neale, Benjamin M. ; Ripatti, Samuli ; Pirinen, Matti ; Daly, Mark J.

American journal of human genetics, 2018-05, Vol.102 (5), p.760-775 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes
Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes
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Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes

Dornbos, Peter ; Chaffin, Mark D. ; Liu, Dajiang J. ; Wang, Minxian ; Park, Joseph ; Aguilar-Salinas, Carlos A. ; Arnett, Donna K. ; Barajas-Olmos, Francisco ; Barzilai, Nir ; Bielak, Lawrence F. ; Bis, Joshua C. ; Blangero, John ; Boerwinkle, Eric ; Bottinger, Erwin ; Brody, Jennifer A. ; Broome, Jai G. ; Burtt, Noël P. ; Cade, Brian E. ; Chang, Yi-Cheng ; Chen, Yii-Der I. ; Choi, Won Jung ; Contreras-Cubas, Cecilia ; Curran, Joanne E. ; de Vries, Paul S. ; DeFronzo, Ralph A. ; Doddapaneni, Harsha ; Duggirala, Ravindranath ; Dutcher, Susan K. ; Emery, Leslie S. ; Freedman, Barry I. ; García-Ortiz, Humberto ; Gibbs, Richard A. ; Glaser, Benjamin ; Gonzalez, Clicerio ; Gonzalez-Villalpando, Maria Elena ; Graff, Mariaelisa ; Grarup, Niels ; Gupta, Namrata ; Hansen, Torben ; Hung, Yi-Jen ; Hwang, Mi Yeong ; Irvin, Marguerite R. ; Kang, Hyun Min ; Kardia, Sharon L.R. ; Kelly, Tanika ; Khan, Alyna T. ; Kim, Bong-Jo ; Kim, Young Jin ; Lange, Leslie A. ; Lee, Juyoung ; Lee, Seonwook ; Lehman, Donna M. ; Linneberg, Allan ; Liu, Jianjun ; Lyssenko, Valeriya ; Ma, Ronald C.W. ; Martínez-Hernández, Angélica ; Mathias, Rasika A. ; Meigs, James B. ; Meitinger, Thomas ; Metcalf, Ginger A. ; Mi, Xuenan ; Mohlke, Karen L. ; Montasser, May E. ; Moon, Jee-Young ; Morrison, Alanna C. ; Muzny, Donna M. ; Nelson, Sarah C. ; Nilsson, Peter M. ; O’Connell, Jeffrey R. ; Palmer, Nicholette D. ; Park, Cheol Joo ; Peralta, Juan M. ; Peyser, Patricia A. ; Preuss, Michael ; Qi, Qibin ; Rao, D.C. ; Reiner, Alexander P. ; Rich, Stephen S. ; Samani, Nilesh ; Schurmann, Claudia ; Seo, Daekwan ; Seo, Jeong-Sun ; Sim, Xueling ; Sladek, Rob ; So, Wing Yee ; Stilp, Adrienne M. ; Taylor, Kent D. ; Teo, Yik Ying ; Tsai, Michael Y. ; Vasan, Ramachandran S. ; Watkins, Hugh ; Weeks, Daniel E. ; Wilson, James G. ; Yanek, Lisa R. ; Rader, Daniel J. ; Rotter, Jerome I. ; McCarthy, Mark I. ; Flannick, Jason A. ; Khera, Amit V.

American journal of human genetics, 2022-01, Vol.109 (1), p.81-96 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Genomic imprinting analyses identify maternal effects as a cause of phenotypic variability in type 1 diabetes and rheumatoid arthritis
Genomic imprinting analyses identify maternal effects as a cause of phenotypic variability in type 1 diabetes and rheumatoid arthritis
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Genomic imprinting analyses identify maternal effects as a cause of phenotypic variability in type 1 diabetes and rheumatoid arthritis

Blunk, Inga ; Thomsen, Hauke ; Reinsch, Norbert ; Mayer, Manfred ; Försti, Asta ; Sundquist, Jan ; Sundquist, Kristina ; Hemminki, Kari

Scientific reports, 2020-07, Vol.10 (1), p.11562, Article 11562 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Tau haplotypes support the Asian ancestry of the Roma population settled in the Basque Country
Tau haplotypes support the Asian ancestry of the Roma population settled in the Basque Country
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Tau haplotypes support the Asian ancestry of the Roma population settled in the Basque Country

Alfonso-Sánchez, Miguel A ; Espinosa, Ibone ; Gómez-Pérez, Luis ; Poveda, Alaitz ; Rebato, Esther ; Peña, Jose A

Heredity, 2018-01, Vol.120 (2), p.91-99 [Periódico revisado por pares]

England: Springer Nature B.V

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6
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
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Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

Mahajan, Anubha ; Petty, Lauren E ; Chiou, Joshua ; Miguel-Escalada, Irene ; Nakatochi, Masahiro ; Huerta-Chagoya, Alicia ; Bielak, Lawrence F ; Hai, Yang ; Kals, Mart ; Grarup, Niels ; Wuttke, Matthias ; Nousome, Darryl ; Long, Jirong ; Ahmad, Meraj ; Jensen, Richard A ; An, Ping ; Cade, Brian E ; Abaitua, Fernando ; Akiyama, Masato ; Bertoni, Alain ; Bian, Zheng ; Brummett, Chad M ; Chee, Miao-Li ; Das, Swapan K ; Du, Shufa ; Duan, Qing ; Eckardt, Kai-Uwe ; Fischer, Krista ; Floyd, James S ; Genter, Pauline ; González-Villalpando, Maria Elena ; Gordon-Larsen, Penny ; Gorkin, David ; Herder, Christian ; Hung, Yi-Jen ; Hwu, Chii-Min ; Ikram, Mohammad Arfan ; Ingelsson, Martin ; Islam, Md Tariqul ; Isono, Masato ; Kamatani, Yoichiro ; Katsuya, Tomohiro ; Khor, Chiea-Chuen ; Kohara, Katsuhiko ; Kriebel, Jennifer ; Kuusisto, Johanna ; Läll, Kristi ; Leong, Aaron ; Luan, Jian'an ; Lv, Jun ; Lyssenko, Valeriya ; Meitinger, Thomas ; Morris, Andrew D ; Nadkarni, Girish N ; Nayak, Uma ; Ntalla, Ioanna ; Peters, Annette ; Preissl, Sebastian ; Rasmussen-Torvik, Laura J ; Roden, Michael ; Sabanayagam, Charumathi ; Schönherr, Sebastian ; Shahriar, Mohammad ; Shi, Jinxiu ; Stančáková, Alena ; Strauch, Konstantin ; Thorleifsson, Gudmar ; Thorsteinsdottir, Unnur ; Tsai, Fuu-Jen ; Tusie-Luna, Teresa ; Udler, Miriam S ; Valladares-Salgado, Adan ; Yajnik, Chittaranjan S ; Yoon, Kyungheon ; Igase, Michiya ; Hanis, Craig L ; Ingelsson, Erik ; Zeggini, Eleftheria ; Rich, Stephen S ; Kooperberg, Charles ; Engert, James C ; Wilson, James G ; Kardia, Sharon L R ; Groop, Leif ; Bharadwaj, Dwaipayan ; Sale, Michèle M ; Cruz, Miguel ; Tai, E-Shyong ; Kato, Norihiro ; Laakso, Markku ; Köttgen, Anna ; Loos, Ruth J F ; Saleheen, Danish ; Hansen, Torben ; Kadowaki, Takashi ; Walters, Robin G ; Stefansson, Kari ; Meigs, James B ; Gloyn, Anna L ; Chambers, John C

Nature genetics, 2022-05, Vol.54 (5), p.560-572 [Periódico revisado por pares]

United States: Nature Publishing Group

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7
The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population
The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population
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The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population

Lundtoft, Christian ; Knight, Ann ; Meadows, Jennifer R S ; Karlsson, Åsa ; Rantapää-Dahlqvist, Solbritt ; Berglin, Ewa ; Palm, Øyvind ; Haukeland, Hilde ; Gunnarsson, Iva ; Bruchfeld, Annette ; Segelmark, Mårten ; Ohlsson, Sophie ; Mohammad, Aladdin J ; Eriksson, Per ; Söderkvist, Peter ; Ronnblom, Lars ; Omdal, Roald ; Jonsson, Roland ; Lindblad-Toh, Kerstin ; Dahlqvist, Johanna

Rheumatic & musculoskeletal diseases open, 2024-04, Vol.10 (2), p.e004039 [Periódico revisado por pares]

England: EULAR

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8
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

Gao, He ; Ntritsos, Georgios ; Ng, Fu Liang ; Evangelou, Marina ; Hellwege, Jacklyn N ; Gaziano, J Michael ; Wilson, Peter W F ; Tsao, Philip S ; Milani, Lili ; Boutin, Thibaud ; Holliday, Elizabeth G ; Jackson, Anne U ; Lin, Wei-Yu ; Mangino, Massimo ; Prins, Bram Peter ; Willems, Sara M ; Farrall, Martin ; Morris, Andrew D ; Paré, Guillaume ; Thom, Simon ; Arking, Dan E ; Ayers, Kristin L ; Blake, Tineka ; Bochud, Murielle ; Campbell, Archie ; Campbell, Harry ; Cocca, Massimiliano ; Deary, Ian J ; Deelen, Joris ; Enroth, Stefan ; Ferreira, Teresa ; Franco, Oscar H ; Gandin, Ilaria ; Gudnason, Vilmundur ; Gyllensten, Ulf ; Harris, Tamara B ; Harris, Sarah E ; Havulinna, Aki S ; Hofer, Edith ; Hottenga, Jouke-Jan ; Hwang, Shih-Jen ; Ingelsson, Erik ; Jansen, Rick ; Joshi, Peter K ; Jousilahti, Pekka ; Khaw, Kay-Tee ; Knekt, Paul ; Kolcic, Ivana ; Kooner, Jaspal S ; Koskinen, Seppo ; Larson, Marty ; Launer, Lenore J ; Lin, Li ; Lind, Lars ; Lu, Yingchang ; Lyytikäinen, Leo-Pekka ; Morgan, Anna ; Oldehinkel, Albertine J ; Palotie, Aarno ; Penninx, Brenda W J H ; Polasek, Ozren ; Pramstaller, Peter P ; Rice, Kenneth ; Ridker, Paul M ; Ried, Janina S ; Ripatti, Samuli ; Rudan, Igor ; Samani, Nilesh J ; Sarin, Antti-Pekka ; Schmidt, Reinhold ; Schmidt, Helena ; Shrine, Nick ; Siscovick, David ; Sorice, Rossella ; Stott, David J ; Sundström, Johan ; Taylor, Kent D ; Tomaszewski, Maciej ; Toniolo, Daniela ; Vergnaud, Anne-Claire ; Vitart, Veronique ; Vuckovic, Dragana ; Yao, Jie ; Zhang, Weihua ; Chasman, Daniel I ; Conen, David ; Danesh, John ; Hayward, Caroline ; Howson, Joanna M M ; Laakso, Markku ; Palmer, Colin N A ; Risch, Lorenz ; Scott, Robert A ; Scott, Rodney J ; Wareham, Nicholas J ; Zeggini, Eleftheria ; Newton-Cheh, Christopher ; Brown, Morris J ; Hung, Adriana M ; Psaty, Bruce M

Nature genetics, 2018-10, Vol.50 (10), p.1412-1425 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity
Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity
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Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity

Akbari, Parsa ; Gilani, Ankit ; Sosina, Olukayode ; Kosmicki, Jack A ; Khrimian, Lori ; Fang, Yi-Ya ; Persaud, Trikaldarshi ; Garcia, Victor ; Sun, Dylan ; Li, Alexander ; Mbatchou, Joelle ; Locke, Adam E ; Benner, Christian ; Verweij, Niek ; Lin, Nan ; Hossain, Sakib ; Agostinucci, Kevin ; Pascale, Jonathan V ; Dirice, Ercument ; Dunn, Michael ; Kraus, William E ; Shah, Svati H ; Chen, Yii-Der I ; Rotter, Jerome I ; Rader, Daniel J ; Melander, Olle ; Still, Christopher D ; Mirshahi, Tooraj ; Carey, David J ; Berumen-Campos, Jaime ; Kuri-Morales, Pablo ; Alegre-Díaz, Jesus ; Torres, Jason M ; Emberson, Jonathan R ; Collins, Rory ; Balasubramanian, Suganthi ; Hawes, Alicia ; Jones, Marcus ; Zambrowicz, Brian ; Murphy, Andrew J ; Paulding, Charles ; Coppola, Giovanni ; Overton, John D ; Reid, Jeffrey G ; Shuldiner, Alan R ; Cantor, Michael ; Kang, Hyun M ; Abecasis, Goncalo R ; Karalis, Katia ; Economides, Aris N ; Marchini, Jonathan ; Yancopoulos, George D ; Sleeman, Mark W ; Altarejos, Judith ; Della Gatta, Giusy ; Tapia-Conyer, Roberto ; Schwartzman, Michal L ; Baras, Aris ; Ferreira, Manuel A R ; Lotta, Luca A

Science (American Association for the Advancement of Science), 2021-07, Vol.373 (6550) [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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10
Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness
Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness
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Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

Willems, Sara M ; Wright, Daniel J ; Day, Felix R ; Trajanoska, Katerina ; Joshi, Peter K ; Morris, John A ; Matteini, Amy M ; Garton, Fleur C ; Grarup, Niels ; Oskolkov, Nikolay ; Thalamuthu, Anbupalam ; Mangino, Massimo ; Liu, Jun ; Demirkan, Ayse ; Lek, Monkol ; Xu, Liwen ; Wang, Guan ; Oldmeadow, Christopher ; Gaulton, Kyle J ; Lotta, Luca A ; Miyamoto-Mikami, Eri ; Rivas, Manuel A ; White, Tom ; Loh, Po-Ru ; Aadahl, Mette ; Amin, Najaf ; Attia, John R ; Austin, Krista ; Benyamin, Beben ; Brage, Søren ; Cheng, Yu-Ching ; Cięszczyk, Paweł ; Derave, Wim ; Eriksson, Karl-Fredrik ; Eynon, Nir ; Linneberg, Allan ; Lucia, Alejandro ; Massidda, Myosotis ; Mitchell, Braxton D ; Miyachi, Motohiko ; Murakami, Haruka ; Padmanabhan, Sandosh ; Pandey, Ashutosh ; Papadimitriou, Ioannis ; Rajpal, Deepak K ; Sale, Craig ; Schnurr, Theresia M ; Sessa, Francesco ; Shrine, Nick ; Tobin, Martin D ; Varley, Ian ; Wain, Louise V ; Wray, Naomi R ; Lindgren, Cecilia M ; MacArthur, Daniel G ; Waterworth, Dawn M ; McCarthy, Mark I ; Pedersen, Oluf ; Khaw, Kay-Tee ; Kiel, Douglas P ; Pitsiladis, Yannis ; Fuku, Noriyuki ; Franks, Paul W ; North, Kathryn N ; van Duijn, Cornelia M ; Mather, Karen A ; Hansen, Torben ; Hansson, Ola ; Spector, Tim ; Murabito, Joanne M ; Richards, J Brent ; Rivadeneira, Fernando ; Langenberg, Claudia ; Perry, John R B ; Wareham, Nick J ; Scott, Robert A

Nature communications, 2017-07, Vol.8 (1), p.16015-12, Article 16015 [Periódico revisado por pares]

England: Nature Publishing Group

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