• 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 ...