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1
The Cancer Genome Atlas Pan-Cancer analysis project
The Cancer Genome Atlas Pan-Cancer analysis project
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The Cancer Genome Atlas Pan-Cancer analysis project

Weinstein, John N ; Collisson, Eric A ; Mills, Gordon B ; Shaw, Kenna R Mills ; Ozenberger, Brad A ; Ellrott, Kyle ; Shmulevich, Ilya ; Sander, Chris ; Stuart, Joshua M

Nature genetics, 2013-10, Vol.45 (10), p.1113-1120 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
The mutational constraint spectrum quantified from variation in 141,456 humans
The mutational constraint spectrum quantified from variation in 141,456 humans
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The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, Konrad J ; Francioli, Laurent C ; Tiao, Grace ; Cummings, Beryl B ; Alföldi, Jessica ; Wang, Qingbo ; Collins, Ryan L ; Laricchia, Kristen M ; Ganna, Andrea ; Birnbaum, Daniel P ; Gauthier, Laura D ; Brand, Harrison ; Solomonson, Matthew ; Watts, Nicholas A ; Rhodes, Daniel ; Singer-Berk, Moriel ; England, Eleina M ; Seaby, Eleanor G ; Kosmicki, Jack A ; Walters, Raymond K ; Tashman, Katherine ; Farjoun, Yossi ; Banks, Eric ; Poterba, Timothy ; Wang, Arcturus ; Seed, Cotton ; Whiffin, Nicola ; Chong, Jessica X ; Samocha, Kaitlin E ; Pierce-Hoffman, Emma ; Zappala, Zachary ; O'Donnell-Luria, Anne H ; Minikel, Eric Vallabh ; Weisburd, Ben ; Lek, Monkol ; Ware, James S ; Vittal, Christopher ; Armean, Irina M ; Bergelson, Louis ; Cibulskis, Kristian ; Connolly, Kristen M ; Covarrubias, Miguel ; Donnelly, Stacey ; Ferriera, Steven ; Gabriel, Stacey ; Gentry, Jeff ; Gupta, Namrata ; Jeandet, Thibault ; Kaplan, Diane ; Llanwarne, Christopher ; Munshi, Ruchi ; Novod, Sam ; Petrillo, Nikelle ; Roazen, David ; Ruano-Rubio, Valentin ; Saltzman, Andrea ; Schleicher, Molly ; Soto, Jose ; Tibbetts, Kathleen ; Tolonen, Charlotte ; Wade, Gordon ; Talkowski, Michael E ; Neale, Benjamin M ; Daly, Mark J ; MacArthur, Daniel G

Nature (London), 2020-05, Vol.581 (7809), p.434-443 [Periódico revisado por pares]

England: Nature Publishing Group

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3
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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4
A genomic mutational constraint map using variation in 76,156 human genomes
A genomic mutational constraint map using variation in 76,156 human genomes
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A genomic mutational constraint map using variation in 76,156 human genomes

Chen, Siwei ; Francioli, Laurent C ; Goodrich, Julia K ; Collins, Ryan L ; Kanai, Masahiro ; Wang, Qingbo ; Alföldi, Jessica ; Watts, Nicholas A ; Vittal, Christopher ; Gauthier, Laura D ; Poterba, Timothy ; Wilson, Michael W ; Tarasova, Yekaterina ; Phu, William ; Grant, Riley ; Yohannes, Mary T ; Koenig, Zan ; Farjoun, Yossi ; Banks, Eric ; Donnelly, Stacey ; Gabriel, Stacey ; Gupta, Namrata ; Ferriera, Steven ; Tolonen, Charlotte ; Novod, Sam ; Bergelson, Louis ; Roazen, David ; Ruano-Rubio, Valentin ; Covarrubias, Miguel ; Llanwarne, Christopher ; Petrillo, Nikelle ; Wade, Gordon ; Jeandet, Thibault ; Munshi, Ruchi ; Tibbetts, Kathleen ; O'Donnell-Luria, Anne ; Solomonson, Matthew ; Seed, Cotton ; Martin, Alicia R ; Talkowski, Michael E ; Rehm, Heidi L ; Daly, Mark J ; Tiao, Grace ; Neale, Benjamin M ; MacArthur, Daniel G ; Karczewski, Konrad J

Nature (London), 2024-01, Vol.625 (7993), p.92-100 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Phelan, Catherine M ; Winham, Stacey J ; Riggan, Marjorie J ; Lecarpentier, Julie ; Anton-Culver, Hoda ; Bean, Yukie ; Chen, Xiao Qing ; Chiquette, Jocelyne ; Claes, Kathleen B M ; Damirovna, Sakaeva Dina ; Dao, Fanny ; Doherty, Jennifer Anne ; Dürst, Matthias ; Dworniczak, Bernd ; Eilber, Ursula ; Ekici, Arif B ; Ferrer, Sandra Fert ; Frost, Debra ; Ganz, Patricia A ; Gehrig, Andrea ; Gentry-Maharaj, Aleksandra ; Glasspool, Rosalind ; Glendon, Gord ; Goranova, Teodora ; Haiman, Christopher A ; Håkansson, Niclas ; Hauke, Jan ; Hildebrandt, Michelle A T ; Hodgson, Shirley ; Hooning, Maartje J ; Huntsman, David G ; Isaacs, Claudine ; Iversen, Edwin S ; Izatt, Louise ; Izquierdo, Angel ; James, Paul ; Jernetz, Mats ; Lambrechts, Diether ; Larrañaga, Nerea ; Lazaro, Conxi ; Lele, Shashikant B ; Lissowska, Jolanta ; Lundvall, Lene ; Mai, Phuong L ; May, Taymaa ; McLaughlin, John R ; McNeish, Iain ; Meindl, Alfons ; Merritt, Melissa A ; Montagna, Marco ; Ness, Roberta B ; Neuhausen, Susan L ; Niederacher, Dieter ; Nussbaum, Robert L ; Olopade, Olufunmilayo I ; Ong, Kai-Ren ; Palli, Domenico ; Peeters, Petra H M ; Pezzani, Lidia ; Piskorz, Anna M ; Pocza, Timea ; Porteous, Mary E ; Prieur, Fabienne ; Rantala, Johanna ; Rappaport-Fuerhauser, Christine ; Rennert, Gad ; Richardson, Andrea ; Robson, Mark ; Romm, Jane ; Rothstein, Joseph H ; Senter, Leigha ; Setiawan, V Wendy ; Severi, Gianluca ; Side, Lucy E ; Song, Honglin ; Spurdle, Amanda B ; Stadler, Zsofia ; Stoppa-Lyonnet, Dominique ; Sukiennicki, Grzegorz ; Szabo, Csilla I ; Szafron, Lukasz ; Teixeira, Manuel R ; Terry, Kathryn L ; Tinker, Anna V ; Tognazzo, Silvia ; Travis, Ruth C ; Tworoger, Shelley S ; Vijai, Joseph ; Walsh, Christine ; Wappenschmidt, Barbara ; Webb, Penelope M ; Weinberg, Clarice R ; Woo, Michelle ; Yang, Hannah ; Zorn, Kristin K ; Ramus, Susan J ; Goodman, Marc T ; Kelemen, Linda E ; Offit, Kenneth ; Gayther, Simon A

Nature genetics, 2017-05, Vol.49 (5), p.680-691 [Periódico revisado por pares]

United States: Nature Publishing Group

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6
Mosaicism in health and disease - clones picking up speed
Mosaicism in health and disease - clones picking up speed
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Mosaicism in health and disease - clones picking up speed

Forsberg, Lars A ; Gisselsson, David ; Dumanski, Jan P

Nature reviews. Genetics, 2017-02, Vol.18 (2), p.128-142 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Jin, Sheng Chih ; Lewis, Sara A ; Bakhtiari, Somayeh ; Zeng, Xue ; Sierant, Michael C ; Shetty, Sheetal ; Nordlie, Sandra M ; Elie, Aureliane ; Corbett, Mark A ; Norton, Bethany Y ; van Eyk, Clare L ; Haider, Shozeb ; Guida, Brandon S ; Magee, Helen ; Liu, James ; Pastore, Stephen ; Vincent, John B ; Brunstrom-Hernandez, Janice ; Papavasileiou, Antigone ; Fahey, Michael C ; Berry, Jesia G ; Harper, Kelly ; Zhou, Chongchen ; Zhang, Junhui ; Li, Boyang ; Zhao, Hongyu ; Heim, Jennifer ; Webber, Dani L ; Frank, Mahalia S B ; Xia, Lei ; Xu, Yiran ; Zhu, Dengna ; Zhang, Bohao ; Sheth, Amar H ; Knight, James R ; Castaldi, Christopher ; Tikhonova, Irina R ; López-Giráldez, Francesc ; Keren, Boris ; Whalen, Sandra ; Buratti, Julien ; Doummar, Diane ; Cho, Megan ; Retterer, Kyle ; Millan, Francisca ; Wang, Yangong ; Waugh, Jeff L ; Rodan, Lance ; Cohen, Julie S ; Fatemi, Ali ; Lin, Angela E ; Phillips, John P ; Feyma, Timothy ; MacLennan, Suzanna C ; Vaughan, Spencer ; Crompton, Kylie E ; Reid, Susan M ; Reddihough, Dinah S ; Shang, Qing ; Gao, Chao ; Novak, Iona ; Badawi, Nadia ; Wilson, Yana A ; McIntyre, Sarah J ; Mane, Shrikant M ; Wang, Xiaoyang ; Amor, David J ; Zarnescu, Daniela C ; Lu, Qiongshi ; Xing, Qinghe ; Zhu, Changlian ; Bilguvar, Kaya ; Padilla-Lopez, Sergio ; Lifton, Richard P ; Gecz, Jozef ; MacLennan, Alastair H ; Kruer, Michael C

Nature genetics, 2020-10, Vol.52 (10), p.1046-1056 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
Evaluating drug targets through human loss-of-function genetic variation
Evaluating drug targets through human loss-of-function genetic variation
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Evaluating drug targets through human loss-of-function genetic variation

Minikel, Eric Vallabh ; Karczewski, Konrad J ; Martin, Hilary C ; Cummings, Beryl B ; Whiffin, Nicola ; Rhodes, Daniel ; Alföldi, Jessica ; Trembath, Richard C ; van Heel, David A ; Daly, Mark J ; Schreiber, Stuart L ; MacArthur, Daniel G

Nature (London), 2020-05, Vol.581 (7809), p.459-464 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
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Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

Flannick, Jason ; Thorleifsson, Gudmar ; Beer, Nicola L ; Jacobs, Suzanne B R ; Grarup, Niels ; Burtt, Noël P ; Mahajan, Anubha ; Fuchsberger, Christian ; Atzmon, Gil ; Benediktsson, Rafn ; Blangero, John ; Bowden, Don W ; Brandslund, Ivan ; Brosnan, Julia ; Burslem, Frank ; Chambers, John ; Cho, Yoon Shin ; Christensen, Cramer ; Douglas, Desirée A ; Duggirala, Ravindranath ; Dymek, Zachary ; Farjoun, Yossi ; Fennell, Timothy ; Fontanillas, Pierre ; Forsén, Tom ; Gabriel, Stacey ; Glaser, Benjamin ; Gudbjartsson, Daniel F ; Hanis, Craig ; Hansen, Torben ; Hreidarsson, Astradur B ; Hveem, Kristian ; Ingelsson, Erik ; Isomaa, Bo ; Johansson, Stefan ; Jørgensen, Torben ; Jørgensen, Marit Eika ; Kathiresan, Sekar ; Kong, Augustine ; Kooner, Jaspal ; Kravic, Jasmina ; Laakso, Markku ; Lee, Jong-Young ; Lind, Lars ; Lindgren, Cecilia M ; Linneberg, Allan ; Masson, Gisli ; Meitinger, Thomas ; Mohlke, Karen L ; Molven, Anders ; Morris, Andrew P ; Potluri, Shobha ; Rauramaa, Rainer ; Ribel-Madsen, Rasmus ; Richard, Ann-Marie ; Rolph, Tim ; Salomaa, Veikko ; Segrè, Ayellet V ; Skärstrand, Hanna ; Steinthorsdottir, Valgerdur ; Stringham, Heather M ; Sulem, Patrick ; Tai, E Shyong ; Teo, Yik Ying ; Teslovich, Tanya ; Thorsteinsdottir, Unnur ; Trimmer, Jeff K ; Tuomi, Tiinamaija ; Tuomilehto, Jaakko ; Vaziri-Sani, Fariba ; Voight, Benjamin F ; Wilson, James G ; Boehnke, Michael ; McCarthy, Mark I ; Njølstad, Pål R ; Pedersen, Oluf ; Groop, Leif ; Cox, David R ; Stefansson, Kari ; Altshuler, David

Nature genetics, 2014-04, Vol.46 (4), p.357-363 [Periódico revisado por pares]

United States: Nature Publishing Group

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10
Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome
Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome
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Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome

Henström, Maria ; Diekmann, Lena ; Bonfiglio, Ferdinando ; Hadizadeh, Fatemeh ; Kuech, Eva-Maria ; von Köckritz-Blickwede, Maren ; Thingholm, Louise B ; Zheng, Tenghao ; Assadi, Ghazaleh ; Dierks, Claudia ; Heine, Martin ; Philipp, Ute ; Distl, Ottmar ; Money, Mary E ; Belheouane, Meriem ; Heinsen, Femke-Anouska ; Rafter, Joseph ; Nardone, Gerardo ; Cuomo, Rosario ; Usai-Satta, Paolo ; Galeazzi, Francesca ; Neri, Matteo ; Walter, Susanna ; Simrén, Magnus ; Karling, Pontus ; Ohlsson, Bodil ; Schmidt, Peter T ; Lindberg, Greger ; Dlugosz, Aldona ; Agreus, Lars ; Andreasson, Anna ; Mayer, Emeran ; Baines, John F ; Engstrand, Lars ; Portincasa, Piero ; Bellini, Massimo ; Stanghellini, Vincenzo ; Barbara, Giovanni ; Chang, Lin ; Camilleri, Michael ; Franke, Andre ; Naim, Hassan Y ; D'Amato, Mauro

Gut, 2018-02, Vol.67 (2), p.263-270 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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