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NTHL1 is a recessive cancer susceptibility gene Nurmi, Anna K.; Pelttari, Liisa M.; Kiiski, Johanna I.; Khan, Sofia; Nurmikolu, Mika; Suvanto, Maija; Aho, Niina; Tasmuth, Tiina; Kalso, Eija; Schleutker, Johanna; Kallioniemi, Anne; Heikkila, Paivi; Aittomaki, Kristiina; Blomqvist, Carl; Nevanlinna, Heli 分享 收藏
Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants 通过多祖先全基因组发现187种新的风险变异来表征前列腺癌风险 Wang, Anqi; Shen, Jiayi; Rodriguez, Alex A.; Saunders, Edward J.; Chen, Fei; Janivara, Rohini; Darst, Burcu F.; Sheng, Xin; Xu, Yili; Chou, Alisha J.; Benlloch, Sara; Dadaev, Tokhir; Brook, Mark N.; Plym, Anna; Sahimi, Ali; Hoffman, Thomas J.; Takahashi, Atushi; Matsuda, Koichi; Momozawa, Yukihide; Fujita, Masashi; Laisk, Triin; Figueredo, Jessica; Muir, Kenneth; Ito, Shuji; Liu, Xiaoxi; Uchio, Yuji; Kubo, Michiaki; Kamatani, Yoichiro; Lophatananon, Artitaya; Wan, Peggy; Andrews, Caroline; Lori, Adriana; Choudhury, Parichoy P.; Schleutker, Johanna; Tammela, Teuvo L. J.; Sipeky, Csilla; Auvinen, Anssi; Giles, Graham G.; Southey, Melissa C.; MacInnis, Robert J.; Cybulski, Cezary; Wokolorczyk, Dominika; Lubinski, Jan; Rentsch, Christopher T.; Cho, Kelly; Mcmahon, Benjamin H.; Neal, David E.; Donovan, Jenny L.; Hamdy, Freddie C.; Martin, Richard M.; Nordestgaard, Borge G.; Nielsen, Sune F.; Weischer, Maren; Bojesen, Stig E.; Roder, Andreas; Stroomberg, Hein V.; Batra, Jyotsna; Chambers, Suzanne; Horvath, Lisa; Clements, Judith A.; Tilly, Wayne; Risbridger, Gail P.; Gronberg, Henrik; Aly, Markus; Szulkin, Robert; Eklund, Martin; Nordstrom, Tobias; Pashayan, Nora; Dunning, Alison M.; Ghoussaini, Maya; Travis, Ruth C.; Key, Tim J.; Riboli, Elio; Park, Jong Y.; Sellers, Thomas A.; Lin, Hui-Yi; Albanes, Demetrius; Weinstein, Stephanie; Cook, Michael B.; Mucci, Lorelei A.; Giovannucci, Edward; Lindstrom, Sara; Kraft, Peter; Hunter, David J.; Penney, Kathryn L.; Turman, Constance; Tangen, Catherine M.; Goodman, Phyllis J.; Thompson, Ian M., Jr.; Hamilton, Robert J.; Fleshner, Neil E.; Finelli, Antonio; Parent, Marie-Elise; Stanford, Janet L.; Ostrander, Elaine A.; Koutros, Stella; Freeman, Laura E. Beane; Stampfer, Meir; Wolk, Alicja; Hakansson, Niclas; Andriole, Gerald L.; Hoover, Robert N.; Machiela, Mitchell J.; Sorensen, Karina Dalsgaard; Borre, Michael; Blot, William J.; Zheng, Wei; Yeboah, Edward D.; Mensah, James E.; Lu, Yong-Jie; Zhang, Hong-Wei; Feng, Ninghan; Mao, Xueying; Wu, Yudong; Zhao, Shan-Chao; Sun, Zan; Thibodeau, Stephen N.; McDonnell, Shannon K.; Schaid, Daniel J.; West, Catharine M. L.; Barnett, Gill; Maier, Christiane; Schnoeller, Thomas; Luedeke, Manuel; Kibel, Adam S.; Drake, Bettina F.; Cussenot, Olivier; Cancel-Tassin, Geraldine; Menegaux, Florence; Truong, Therese; Koudou, Yves Akoli; John, Esther M.; Grindedal, Eli Marie; Maehle, Lovise; Khaw, Kay-Tee; Ingles, Sue A.; Stern, Mariana C.; Vega, Ana; Gomez-Caamano, Antonio; Fachal, Laura; Rosenstein, Barry S.; Kerns, Sarah L.; Ostrer, Harry; Teixeira, Manuel R.; Paulo, Paula; Brandao, Andreia; Watya, Stephen; Lubwama, Alexander; Bensen, Jeannette T.; Butler, Ebonee N.; Mohler, James L.; Taylor, Jack A.; Kogevinas, Manolis; Dierssen-Sotos, Trinidad; Castano-Vinyals, Gemma; Cannon-Albright, Lisa; Teerlink, Craig C.; Huff, Chad D.; Pilie, Patrick; Yu, Yao; Bohlender, Ryan J.; Gu, Jian; Strom, Sara S.; Multigner, Luc; Blanchet, Pascal; Brureau, Laurent; Kaneva, Radka; Slavov, Chavdar; Mitev, Vanio; Leach, Robin J.; Brenner, Hermann; Chen, Xuechen; Holleczek, Bernd; Schoettker, Ben; Klein, Eric A.; Hsing, Ann W.; Kittles, Rick A.; Murphy, Adam B.; Logothetis, Christopher J.; Kim, Jeri; Neuhausen, Susan L.; Steele, Linda; Ding, Yuan Chun; Isaacs, William B.; Nemesure, Barbara; Hennis, Anselm J. M.; Carpten, John; Pandha, Hardev; Michael, Agnieszka; De Ruyck, Kim; De Meerleer, Gert; Ost, Piet; Xu, Jianfeng; Razack, Azad; Lim, Jasmine; Teo, Soo-Hwang; Newcomb, Lisa F.; Lin, Daniel W.; Fowke, Jay H.; Neslund-Dudas, Christine M.; Rybicki, Benjamin A.; Gamulin, Marija; Lessel, Davor; Kulis, Tomislav; Usmani, Nawaid; Abraham, Aswin; Singhal, Sandeep; Parliament, Matthew; Claessens, Frank; Joniau, Steven; Van den Broeck, Thomas; Gago-Dominguez, Manuela; Castelao, Jose Esteban; Martinez, Maria Elena; Larkin, Samantha; Townsend, Paul A.; Aukim-Hastie, Claire; Bush, William S.; Aldrich, Melinda C.; Crawford, Dana C.; Srivastava, Shiv; Cullen, Jennifer; Petrovics, Gyorgy; Casey, Graham; Wang, Ying; Tettey, Yao; Lachance, Joseph; Tang, Wei; Biritwum, Richard B.; Adjei, Andrew A.; Tay, Evelyn; Truelove, Ann; Niwa, Shelley; Yamoah, Kosj; Govindasami, Koveela; Chokkalingam, Anand P.; Keaton, Jacob M.; Hellwege, Jacklyn N.; Clark, Peter E.; Jalloh, Mohamed; Gueye, Serigne M.; Niang, Lamine; Ogunbiyi, Olufemi; Shittu, Olayiwola; Amodu, Olukemi; Adebiyi, Akindele O.; Aisuodionoe-Shadrach, Oseremen I.; Ajibola, Hafees O.; Jamda, Mustapha A.; Oluwole, Olabode P.; Nwegbu, Maxwell; Adusei, Ben; Mante, Sunny; Darkwa-Abrahams, Afua; Diop, Halimatou; Gundell, Susan M.; Roobol, Monique J.; Jenster, Guido; van Schaik, Ron H. N.; Hu, Jennifer J.; Sanderson, Maureen; Kachuri, Linda; Varma, Rohit; McKean-Cowdin, Roberta; Torres, Mina; Preuss, Michael H.; Loos, Ruth J. F.; Zawistowski, Matthew; Zollner, Sebastian; Lu, Zeyun; Van Den Eeden, Stephen K.; Easton, Douglas F.; Ambs, Stefan; Edwards, Todd L.; Magi, Reedik; Rebbeck, Timothy R.; Fritsche, Lars; Chanock, Stephen J.; Berndt, Sonja I.; Wiklund, Fredrik; Nakagawa, Hidewaki; Witte, John S.; Gaziano, J. Michael; Justice, Amy C.; Mancuso, Nick; Terao, Chikashi; Eeles, Rosalind A.; Kote-Jarai, Zsofia; Madduri, Ravi K.; Conti, David V.; Haiman, Christopher A. 分享 收藏
Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry 评估构建非洲和欧洲血统男性前列腺癌多基因风险评分的方法 Darst, Burcu F.; Shen, Jiayi; Madduri, Ravi K.; Rodriguez, Alexis A.; Xiao, Yukai; Sheng, Xin; Saunders, Edward J.; Dadaev, Tokhir; Brook, Mark N.; Hoffmann, Thomas J.; Muir, Kenneth; Wan, Peggy; Le Marchand, Loic; Wilkens, Lynne; Wang, Ying; Schleutker, Johanna; MacInnis, Robert J.; Cybulski, Cezary; Neal, David E.; Nordestgaard, Borge G.; Nielsen, Sune F.; Batra, Jyotsna; Clements, Judith A.; Gronberg, Henrik; Pashayan, Nora; Travis, Ruth C.; Park, Jong Y.; Albanes, Demetrius; Weinstein, Stephanie; Mucci, Lorelei A.; Hunter, David J.; Penney, Kathryn L.; Tangen, Catherine M.; Hamilton, Robert J.; Parent, Marie-Elise; Stanford, Janet L.; Koutros, Stella; Wolk, Alicja; Sorensen, Karina D.; Blot, William J.; Yeboah, Edward D.; Mensah, James E.; Lu, Yong-Jie; Schaid, Daniel J.; Thibodeau, Stephen N.; West, Catharine M.; Maier, Christiane; Kibel, Adam S.; Cancel-Tassin, Geraldine; Menegaux, Florence; John, Esther M.; Grindedal, Eli Marie; Khaw, Kay-Tee; Ingles, Sue A.; Vega, Ana; Rosenstein, Barry S.; Teixeira, Manuel R.; Kogevinas, Manoli; Cannon-Albright, Lisa; Huff, Chad; Multigner, Luc; Kaneva, Radka; Leach, Robin J.; Brenner, Hermann; Hsing, Ann W.; Kittles, Rick A.; Murphy, Adam B.; Logothetis, Christopher J.; Neuhausen, Susan L.; Isaacs, William B.; Nemesure, Barbara; Hennis, Anselm J.; Carpten, John; Pandha, Hardev; De Ruyck, Kim; Xu, Jianfeng; Razack, Azad; Teo, Soo-Hwang; Newcomb, Lisa F.; Fowke, Jay H.; Neslund-Dudas, Christine; Rybicki, Benjamin A.; Gamulin, Marija; Usmani, Nawaid; Claessens, Frank; Gago-Dominguez, Manuela; Castelao, Jose Esteban; Townsend, Paul A.; Crawford, Dana C.; Petrovics, Gyorgy; Casey, Graham; Roobol, Monique J.; Hu, Jennifer F.; Berndt, Sonja I.; van den Eeden, Stephen K.; Easton, Douglas F.; Chanock, Stephen J.; Cook, Michael B.; Wiklund, Fredrik; Witte, John S.; Eeles, Rosalind A.; Kote-Jarai, Zsofia; Watya, Stephen; Gaziano, John M.; Justice, Amy C.; Conti, David V.; Haiman, Christopher A. 分享 收藏
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TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients Foddis, Marco; Blumenau, Sonja; Holtgrewe, Manuel; Paquette, Kimberly; Westra, Kaitlyn; Alonso, Isabel; Macario, Maria do Carmo; Morgadinho, Ana Sofia; Velon, Ana Graca; Santo, Gustavo; Santana, Isabel; Monkare, Saana; Kuuluvainen, Liina; Schleutker, Johanna; Poyhonen, Minna; Myllykangas, Liisa; Pavlovic, Aleksandra; Kostic, Vladimir; Dobricic, Valerija; Lohmann, Ebba; Hanagasi, Hasmet; Santos, Mariana; Guven, Gamze; Bilgic, Basar; Bras, Jose; Beule, Dieter; Dirnagl, Ulrich; Guerreiro, Rita; Sassi, Celeste 分享 收藏
Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score 使用新的多基因风险评分改善多个祖先的前列腺癌风险分层 Minh-Phuong Huynh-Le; Karunamuni, Roshan; Fan, Chun Chieh; Asona, Lui; Thompson, Wesley K.; Martinez, Maria Elena; Eeles, Rosalind A.; Kote-Jarai, Zsofia; Muir, Kenneth R.; Lophatananon, Artitaya; Schleutker, Johanna; Pashayan, Nora; Batra, Jyotsna; Groenberg, Henrik; Neal, David E.; Nordestgaard, Borge G.; Tangen, Catherine M.; MacInnis, Robert J.; Wolk, Alicja; Albanes, Demetrius; Haiman, Christopher A.; Travis, Ruth C.; Blot, William J.; Stanford, Janet L.; Mucci, Lorelei A.; West, Catharine M. L.; Nielsen, Sune F.; Kibel, Adam S.; Cussenot, Olivier; Berndt, Sonja, I; Koutros, Stella; Sorensen, Karina Dalsgaard; Cybulski, Cezary; Grindedal, Eli Marie; Menegaux, Florence; Park, Jong Y.; Ingles, Sue A.; Maier, Christiane; Hamilton, Robert J.; Rosenstein, Barry S.; Lu, Yong-Jie; Watya, Stephen; Vega, Ana; Kogevinas, Manolis; Wiklund, Fredrik; Penney, Kathryn L.; Huff, Chad D.; Teixeira, Manuel R.; Multigner, Luc; Leach, Robin J.; Brenner, Hermann; John, Esther M.; Kaneva, Radka; Logothetis, Christopher J.; Neuhausen, Susan L.; De Ruyck, Kim; Ost, Piet; Razack, Azad; Newcomb, Lisa F.; Fowke, Jay H.; Gamulin, Marija; Abraham, Aswin; Claessens, Frank; Castelao, Jose Esteban; Townsend, Paul A.; Crawford, Dana C.; Petrovics, Gyorgy; van Schaik, Ron H. N.; Parent, Marie-Elise; Hu, Jennifer J.; Zheng, Wei; Mills, Ian G.; Andreassen, Ole A.; Dale, Anders M.; Seibert, Tyler M. 分享 收藏
The variant rs77559646 associated with aggressive prostate cancer disrupts ANO7 mRNA splicing and protein expression Wahlstrom, Gudrun; Heron, Samuel; Knuuttila, Matias; Kaikkonen, Elina; Tulonen, Nea; Metsala, Olli; Lof, Christoffer; Ettala, Otto; Bostrom, Peter J.; Taimen, Pekka; Poutanen, Matti; Schleutker, Johanna 分享 收藏
COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes Kuuluvainen, Liina; Monkare, Saana; Kokkonen, Hannaleena; Zhao, Fang; Verkkoniemi-Ahola, Auli; Schleutker, Johanna; Hakonen, Anna H.; Hartikainen, Paivi; Poyhonen, Minna; Myllykangas, Liisa 分享 收藏
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study Karlsson, Questa; Brook, Mark N.; Dadaev, Tokhir; Wakerell, Sarah; Saunders, Edward J.; Muir, Kenneth; Neal, David E.; Giles, Graham G.; MacInnis, Robert J.; Thibodeau, Stephen N.; McDonnell, Shannon K.; Cannon-Albright, Lisa; Teixeira, Manuel R.; Paulo, Paula; Cardoso, Marta; Huff, Chad; Li, Donghui; Yao, Yu; Scheet, Paul; Permuth, Jennifer B.; Stanford, Janet L.; Dai, James Y.; Ostrander, Elaine A.; Cussenot, Olivier; Cancel-Tassin, Geraldine; Hoegel, Josef; Herkommer, Kathleen; Schleutker, Johanna; Tammela, Teuvo L. J.; Rathinakannan, Venkat; Sipeky, Csilla; Wiklund, Fredrik; Gronberg, Henrik; Aly, Markus; Isaacs, William B.; Dickinson, Jo L.; FitzGerald, Liesel M.; Chua, Melvin L. K.; Nguyen-Dumont, Tu; Consortium, Practical; Schaid, Daniel J.; Southey, Melissa C.; Eeles, Rosalind A.; Kote-Jarai, Zsofia 分享 收藏
Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants Milligan, John N.; Larson, Jessica L.; Filipovic-Sadic, Stela; Laosinchai-Wolf, Walairat; Huang, Ya-Wen; Ko, Tsang-Ming; Abbott, Kristin M.; Lemmink, Henny H.; Toivonen, Minna; Schleutker, Johanna; Gentile, Caren; Van Deerlin, Vivianna M.; Zhu, Huiping; Latham, Gary J. 分享 收藏
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PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice Messerschmidt, Clemens; Foddis, Marco; Blumenau, Sonja; Mueller, Susanne; Bentele, Kajetan; Holtgrewe, Manuel; Kun-Rodrigues, Celia; Alonso, Isabel; Macario, Maria do Carmo; Morgadinho, Ana Sofia; Velon, Ana Graca; Santo, Gustavo; Santana, Isabel; Monkare, Saana; Kuuluvainen, Liina; Schleutker, Johanna; Poyhonen, Minna; Myllykangas, Liisa; Senatore, Assunta; Berchtold, Daniel; Winek, Katarzyna; Meisel, Andreas; Pavlovic, Aleksandra; Kostic, Vladimir; Dobricic, Valerija; Lohmann, Ebba; Hanagasi, Hasmet; Guven, Gamze; Bilgic, Basar; Bras, Jose; Guerreiro, Rita; Beule, Dieter; Dirnagl, Ulrich; Sassi, Celeste 分享 收藏
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