Blar i Faculty of Medicine på tidsskrift "European Journal of Human Genetics"

Viser treff 1-8 av 8

    • 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 ...

    • Evidence for anticipation in Beckwith-Wiedemann syndrome 

      Berland, Siren; Appelbäck, Mia Sanby; Bruland, Ove; Beygo, Jasmin; Buiting, Karin; Mackay, Deborah J.G.; Temple, I. Karen; Houge, Gunnar (Journal article; Peer reviewed, 2013)
      Classical Beckwith–Wiedemann syndrome (BWS) was diagnosed in two sisters and their male cousin. The children’s mothers and a third sister were tall statured (178, 185 and 187 cm) and one had mild BWS features as a child. ...

    • Identity-by-descent mapping in a Scandinavian multiple sclerosis cohort 

      Westerlind, Helga; Imrell, Kerstin; Ramanujam, Ryan; Myhr, Kjell-Morten; Celius, Elisabeth Gulowsen; Harbo, Hanne Flinstad; Oturai, Annette Bang; Hamsten, Anders; Alfredsson, Lars; Olsson, Tomas; Kockum, Ingrid; Koski, Timo; Hillert, Jan (Peer reviewed; Journal article, 2015)
      In an attempt to map chromosomal regions carrying rare gene variants contributing to the risk of multiple sclerosis (MS), we identified segments shared identical-by-descent (IBD) using the software BEAGLE 4.0’s refined IBD ...

    • 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 ...

    • NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy 

      Mc Tiernan, Nina; Gill, Harinder; Prada, Carlos E.; Pachajoa, Harry; Lores, Juliana; Arnesen, Thomas (Journal article; Peer reviewed, 2020)
      Nearly half of all human proteins are acetylated at their N-termini by the NatA N-terminal acetyltransferase complex. NAA10 is evolutionarily conserved as the catalytic subunit of NatA in complex with NAA15, but may also ...

    • 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 ...

    • Surveillance of multiple congenital anomalies; searching for new associations 

      Morris, Joan K.; Bergman, Jorieke E. H.; Barisic, Ingeborg; Wellesley, Diana; Tucker, David; Limb, Elizabeth; Addor, Marie-Claude; Cavero-Carbonell, Clara; Matias Dias, Carlos; Draper, Elisabeth S.; Echevarría-González-de-Garibay, Luis Javier; Gatt, Miriam; Klungsøyr, Kari; Lelong, Nathalie; Luyt, Karen; Materna-Kiryluk, Anna; Nelen, Vera; Neville, Amanda; Perthus, Isabelle; Pierini, Anna; Randrianaivo-Ranjatoelina, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Sayers, Geraldine; Wertelecki, Wladimir; Kinsner-Ovaskainen, Agnieszka; Garne, Ester (Journal article; Peer reviewed, 2023)
      Many human teratogens are associated with a spectrum of congenital anomalies rather than a single defect, and therefore the identification of congenital anomalies occurring together more frequently than expected may improve ...