• Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health 

      Johannessen, Jarle; Nærland, Terje; Hope, Sigrun; Torske, Tonje; Kaale, Anett; Wirgenes, Katrine V.; Malt, Eva; Djurovic, Srdjan; Rietschel, Marcella; Andreassen, Ole A. (Journal article; Peer reviewed, 2021)
      Clinical relevance of genetic testing is increasing in autism spectrum disorder (ASD). Information about genetic risk may contribute to improved diagnostics, treatment and family planning, but may also be perceived as a ...
    • The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance? 

      Vetti, Hildegunn Høberg; Ognedal, Elisabet; Buisson, Adrien; Vamre, Tone Bøe Aaman; Ariansen, Sarah; Hoover, Jacqueline M.; Eide, Geir Egil; Houge, Gunnar; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Bjorvatn, Cathrine; Knappskog, Per Morten (Peer reviewed; Journal article, 2020-03-20)
      Rare sequence variants in the non-coding part of the BRCA genes are often reported as variants of uncertain significance (VUS), which leave patients and doctors in a challenging position. The aim of this study was to ...
    • 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 ...
    • Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents 

      Smajlagic, Dinka; Lavrichenko, Ksenia; Berland, Siren; Helgeland, Øyvind; Knudsen, Gun Peggy Strømstad; Vaudel, Marc; Haavik, Jan; Knappskog, Per; Njølstad, Pål Rasmus; Houge, Gunnar; Johansson, Stefan (Journal article; Peer reviewed, 2020)
      Recurrent copy number variations (CNVs) are common causes of neurodevelopmental disorders (NDDs) and associated with a range of psychiatric traits. These CNVs occur at defined genomic regions that are particularly prone ...