• Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes 

      Goodrich, Julia K.; Singer-Berk, Moriel; Son, Rachel; Sveden, Abigail; Wood, Jordan; England, Eleina; Cole, Joanne B.; Weisburd, Ben; Watts, Nick; Caulkins, Lizz; Dornbos, Peter; Koesterer, Ryan; Zappala, Zachary; Zhang, Haichen; Maloney, Kristin A.; Dahl, Andy; Aguilar-Salinas, Carlos A.; Atzmon, Gil; Barajas-Olmos, Francisco; Barzilai, Nir; Blangero, John; Boerwinkle, Eric; Bonnycastle, Lori L.; Bottinger, Erwin; Bowden, Donald W.; Centeno-Cruz, Federico; Chambers, John C.; Chami, Nathalie; Chan, Edmund; Chan, Juliana; Cheng, Ching-Yu; Cho, Yoon Shin; Contreras-Cubas, Cecilia; Córdova, Emilio; Correa, Adolfo; DeFronzo, Ralph A.; Duggirala, Ravindranath; Dupuis, Josée; Garay-Sevilla, Ma Eugenia; García-Ortiz, Humberto; Gieger, Christian; Glaser, Benjamin; González-Villalpando, Clicerio; Gonzalez, Ma Elena; Grarup, Niels; Groop, L; Gross, Myron; Haiman, Christopher A.; Han, Sohee; Hanis, Craig L.; Hansen, Torben; Heard-Costa, Nancy L.; Henderson, Brian E.; Hernandez, Juan Manuel Malacara; Hwang, Mi Yeong; Islas-Andrade, Sergio; Jørgensen, Marit E.; Kang, Hyun Min; Kim, Bong-Jo; Kim, Young Jin; Koistinen, Heikki A.; Kooner, Jaspal Singh; Kuusisto, Johanna; Kwak, Soo-Heon; Laakso, Markku; Lange, Leslie; Lee, Jong-Young; Lee, Juyoung; Lehman, Donna M.; Linneberg, Allan; Liu, Jianjun; Loos, Ruth J. F.; Lyssenko, Valeriya; Ma, Ronald C. W.; Martínez-Hernández, Angélica; Meigs, James B.; Meitinger, Thomas; Mendoza-Caamal, Elvia; Mohlke, Karen L.; Morris, AD; Morrison, Alanna C.; Ng, Maggie C. Y.; Nilsson, Peter M.; O’Donnell, Christopher J.; Orozco, Lorena; Palmer, Colin N. A.; Park, Kyong Soo; Post, W; Pedersen, Oluf; Preuss, Michael; Psaty, Bruce M.; Reiner, Alexander P.; Revilla-Monsalve, Cristina; Rich, Stephen S.; Rotter, Jerome I.; Saleheen, Danish; Schurmann, Claudia; Sim, Xueling; Sladek, Rob; Small, Kerrin S.; So, Wing Yee; Spector, Timothy D.; Strauch, Konstantin; Strom, Tim M.; Tai, E. Shyong; Tam, Claudia H. T.; Teo, Yik Ying; Thameem, Farook; Tomlinson, Brian; Tracy, Russell P.; Tuomi, Tiinamaija; Tuomilehto, Jaakko; Tusié-Luna, Teresa; van Dam, Rob M.; Vasan, Ramachandran S.; Wilson, James G.; Witte, Daniel R.; Wong, Tien-Yin; Burtt, Noël P.; Zaitlen, Noah; McCarthy, Mark I.; Boehnke, Michael; Pollin, Toni I.; Flannick, Jason; Mercader, Josep M.; O’Donnell-Luria, Anne; Baxter, Samantha; Florez, Jose C.; MacArthur, Daniel G.; Udler, MS (Journal article; Peer reviewed, 2021)
      Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. ...
    • Identification of nine new susceptibility loci for endometrial cancer 

      O'Mara, Tracy A.; Glubb, Dylan M.; Amant, Frédéric; Annibali, Daniela; Ashton, Katie; Attia, John; Auer, Paul L.; Beckmann, Matthias W.; Black, Amanda; Bolla, Manjeet K.; Brauch, Hiltrud; Brenner, Hermann; Brinton, Louise; Buchanan, Daniel D.; Burwinkel, Barbara; Chang-Claude, Jenny; Chanock, Stephen J.; Chen, Chu; Chen, Maxine M.; Cheng, Timothy H.T.; Clarke, Christine L.; Clendenning, Mark; Cook, Linda S.; Couch, Fergus J.; Cox, Angela; Crous-Bous, Marta; Czene, Kamila; Day, Felix; Dennis, Joe; Depreeuw, Jeroen; Doherty, Jennifer Anne; Dörk, Thilo; Dowdy, Sean C.; Dürst, Matthias; Ekici, Arif B.; Fasching, Peter A.; Fridley, Brooke L.; Friedenreich, Christine M.; Fritschi, Lin; Fung, Jenny; García-Closas, Montserrat; Gaudet, Mia M.; Giles, Graham G.; Goode, Ellen L.; Gorman, Maggie; Haiman, Christopher A.; Hall, Per; Hankison, Susan E.; Healey, Catherine S.; Hein, Alexander; Hillemanns, Peter; Hodgson, Shirley; Høivik, Erling Andre; Holliday, Elizabeth G.; Hopper, John L.; Hunter, David J.; Jones, Angela; Krakstad, Camilla; Kristensen, Vessela N.; Lambrechts, Diether; Marchand, Loic Le; Liang, Xiaolin; Lindblom, Annika; Lissowska, Jolanta; Long, Jirong; Lu, Lingeng; Magliocco, Anthony M.; Martin, Lynn; McEvoy, Mark; Meindl, Alfons; Michailidou, Kyriaki; Milne, Roger L.; Mints, Miriam; Montgomery, Grant W.; Nassir, Rami; Olsson, Håkan; Orlow, Irene; Otton, Geoffrey; Palles, Claire; Perry, John R.B.; Peto, Julian; Pooler, Loreall; Prescott, Jennifer; Proietto, Tony; Rebbeck, Timothy R.; Risch, Harvey A.; Rogers, Peter A.W.; Rübner, Matthias; Runnebaum, Ingo; Sacerdote, Carlotta; Sarto, Gloria E.; Schumacher, Fredrick; Scott, Rodney J.; Setiawan, V. Wendy; Shah, Mitul; Sheng, Xin; Shu, Xiao-Ou; Southey, Melissa C.; Swerdlow, Anthony J.; Tham, Emma; Trovik, Jone; Turman, Constance; Tyrer, Jonathan P.; Vachon, Celine; VanDen Berg, David; Vanderstichele, Adriaan; Wang, Zhaoming; Webb, Penelope M.; Wentzensen, Nicolas; Werner, Henrica Maria Johanna; Winham, Stacey J.; Wolk, Alicja; Xia, Lucy; Xiang, Yong-Bing; Yang, Hannah P.; Yu, Herbert; Zheng, Wei; Pharoah, Paul D.P.; Dunning, Alison M.; Kraft, Peter; De Vivo, Immaculata; Tomlinson, Ian; Easton, Douglas F.; Spurdle, Amanda B.; Thompson, Deborah J. (Peer reviewed; Journal article, 2018-08-09)
      Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial ...
    • Polygenic risk modeling for prediction of epithelial ovarian cancer risk 

      Dareng, Eileen O.; Tyrer, Jonathan P.; Barnes, Daniel R.; Jones, Michelle R.; Yang, Xin; Aben, Katja K. H.; Adank, Muriel A.; Agata, Simona; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Aravantinos, Gerasimos; Arun, Banu K.; Augustinsson, Annelie; Balmaña, Judith; Bandera, Elisa V.; Barkardottir, Rosa B.; Barrowdale, Daniel; Beckmann, Matthias W.; Beeghly-Fadiel, Alicia; Benitez, Javier; Bermisheva, Marina; Bernardini, Marcus Q.; Bjørge, Line; Black, Amanda; Bogdanova, Natalia V.; Bonanni, Bernardo; Borg, Ake; Brenton, James D.; Budzilowska, Agnieszka; Butzow, Ralf; Buys, Saundra S.; Cai, Hui; Caligo, Maria A.; Campbell, Ian; Cannioto, Rikki; Cassingham, Hayley; Chang-Claude, Jenny; Chanock, Stephen J.; Chen, Kexin; Chiew, Yoke-Eng; Chung, Wendy K.; Claes, Kathleen B. M.; Colonna, Sarah; Cook, Linda S.; Couch, Fergus J.; Daly, Mary B.; Dao, Fanny; Davies, Eleanor; de la Hoya, Miguel; de Putter, Robin; Dennis, Joe; DePersia, Allison; Devilee, Peter; Diez, Orland; Ding, Yuan Chun; Doherty, Jennifer A.; Domchek, Susan M.; Dörk, Thilo; du Bois, Andreas; Dürst, Matthias; Eccles, Diana M.; Eliassen, Heather A.; Engel, Christoph; Evans, Gareth D.; Fasching, Peter A.; Flanagan, James M.; Fortner, Renée T.; Machackova, Eva; Friedman, Eitan; Ganz, Patricia A.; Garber, Judy; Gensini, Francesca; Giles, Graham G.; Glendon, Gord; Godwin, Andrew K.; Goodman, Marc T.; Greene, Mark H.; Gronwald, Jacek; Hahnen, Eric; Haiman, Christopher A.; Håkansson, Niclas; Hamann, Ute; Hansen, Thomas V. O.; Harris, Holly R.; Hartman, Mikael; Heitz, Florian; Hildebrandt, Michelle A. T.; Høgdall, Estrid; Høgdall, Claus K.; Hopper, John L.; Huang, Ruea-Yea; Huff, Chad; Hulick, Peter J.; Huntsman, David G.; Imyanitov, Evgeny N.; van der Hout, Annemieke H.; Isaacs, Claudine; Jakubowska, Anna; James, Paul A.; Janavicius, Ramunas; Jensen, Allan; Johannsson, Oskar Th.; John, Esther M.; Kang, Daehee; Karlan, Beth Y.; Karnezis, Anthony; Kelemen, Linda E.; Khusnutdinova, Elza; Kiemeney, Lambertus A.; Kim, Byoung-Gie; Kjaer, Susanne K.; Komenaka, Ian; Kupryjanczyk, Jolanta; Kurian, Allison W.; Kwong, Ava; Lambrechts, Diether; Larson, Melissa C.; Lazaro, Conxi; Le, Nhu D.; Leslie, Goska; Lester, Jenny; Lesueur, Fabienne; Levine, Douglas A.; Li, Lian; Li, Jingmei; Loud, Jennifer T.; Lu, Karen H.; Lubinski, Jan; Mai, Phuong L.; Manoukian, Siranoush; Marks, Jeffrey R.; Matsuno, Rayna Kim; Matsuo, Keitaro; May, Taymaa; McGuffog, Lesley; McLaughlin, John R.; McNeish, Iain A.; Mebirouk, Noura; Menon, Usha; Miller, Austin; Milne, Roger L.; Minlikeeva, Albina; Modugno, Francesmary; Montagna, Marco; Moysich, Kirsten B.; Munro, Elizabeth; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Yie, Joanne Ngeow Yuen; Nielsen, Henriette Roed; Nielsen, Finn C.; Nikitina-Zake, Liene; Odunsi, Kunle; Offit, Kenneth; Olah, Edith; Olbrecht, Siel; Olopade, Olufunmilayo I.; Olson, Sara H.; Olsson, Håkan; Osorio, Ana; Papi, Laura; Park, Sue K.; Parsons, Michael T.; Pathak, Harsha; Pedersen, Inge Sokilde; Peixoto, Ana; Pejovic, Tanja; Perez-Segura, Pedro; Permuth, Jennifer B.; Peshkin, Beth; Peterlongo, Paolo; Piskorz, Anna; Prokofyeva, Darya; Radice, Paolo; Rantala, Johanna; Riggan, Marjorie J.; Risch, Harvey A.; Rodriguez-Antona, Cristina; Ross, Eric; Rossing, Mary Anne; Runnebaum, Ingo; Sandler, Dale P.; Santamariña, Marta; Soucy, Penny; Schmutzler, Rita K.; Setiawan, V. Wendy; Shan, Kang; Sieh, Weiva; Simard, Jacques; Singer, Christian F.; Sokolenko, Anna P.; Song, Honglin; Southey, Melissa C.; Steed, Helen; Stoppa-Lyonnet, Dominique; Sutphen, Rebecca; Swerdlow, Anthony J.; Tan, Yen Yen; Teixeira, Manuel; Teo, Soo Hwang; Terry, Kathryn L.; Terry, Mary Beth; Thomsen, Liv Cecilie Vestrheim; Thull, Darcy L.; Tischkowitz, Marc; Titus, Linda; Toland, Amanda E.; Torres, Diana; Trabert, Britton; Travis, Ruth; Tung, Nadine; Tworoger, Shelley S.; Valen, Ellen; van Altena, Anne M.; van der Hout, Annemieke H.; Van Nieuwenhuysen, Els; van Rensburg, Elizabeth J.; Vega, Ana; Edwards, Digna Velez; Vierkant, Robert A.; Wang, Frances; Wappenschmidt, Barbara; Webb, Penelope M.; Weinberg, Clarice R.; Weitzel, Jeffrey N.; Wentzensen, Nicolas; White, Emily; Whittemore, Alice S.; Winham, Stacey J.; Wolk, Alicja; Woo, Yin-Ling; Wu, Anna H.; Yan, Li; Yannoukakos, Drakoulis; Zavaglia, Katia M.; Zheng, Wei; Ziogas, Argyrios; Zorn, Kristin K.; Kleibl, Zdenek; Easton, Douglas; Lawrenson, Kate; DeFazio, Anna; Sellers, Thomas A.; Ramus, Susan J.; Pearce, Celeste L.; Monteiro, Alvaro N.; Cunningham, Julie; Goode, Ellen L.; Schildkraut, Joellen M.; Berchuck, Andrew; Chenevix-Trench, Georgia; Gayther, Simon A.; Antoniou, Antonis C.; Pharoah, Paul D. P. (Journal article; Peer reviewed, 2022)
      Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance ...