• Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16 

      Pakdaman, Yasaman; Berland, Siren; Bustad, Helene J.; Erdal, Sigrid; Thompson, Bryony A.; James, Paul A.; Power, Kjersti; Ellingsen, Ståle; Krooni, Martin; Berge, Line Iden; Sexton, Adrienne; Bindoff, Laurence Albert; Knappskog, Per Morten; Johansson, Stefan; Aukrust, Ingvild (Journal article; Peer reviewed, 2021)
      Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar ...
    • 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 ...