Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort

por Altaraihi, Mays, Hansen, Thomas van Overeem, Santoni-Rugiu, Eric, Rossing, Maria, Rasmussen, Åse Krogh, Gerdes, Anne-Marie, Wadt, Karin
Publicado 2021

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes

por Stoltze, Ulrik Kristoffer, Hansen, Thomas Van Overeem, Brok, Jesper Sune, Grønskov, Karen, Tumer, Asuman Z, Ahlborn, Lise Barlebo, Schmiegelow, Kjeld, Wadt, Karin A W
Publicado 2023

The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification

por Byrjalsen, Anna, Stoltze, Ulrik, Mehrjouy, Mana, Frederiksen, Jane Hübertz, Bak, Mads, Birkedal, Ulf, Hasle, Henrik, Gerdes, Anne‐Marie, Schmiegelow, Kjeld, Wadt, Karin, Hansen, Thomas van Overeem
Publicado 2023

Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

por Byrjalsen, Anna, Diets, Illja J., Bakhuizen, Jette, Hansen, Thomas van Overeem, Schmiegelow, Kjeld, Gerdes, Anne-Marie, Stoltze, Ulrik, Kuiper, Roland P., Merks, Johannes H. M., Wadt, Karin, Jongmans, Marjolijn
Publicado 2021

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort

por Stoltze, Ulrik Kristoffer, Hildonen, Mathis, Hansen, Thomas Van Overeem, Foss-Skiftesvik, Jon, Byrjalsen, Anna, Lundsgaard, Malene, Pignata, Laura, Grønskov, Karen, Tumer, Zeynep, Schmiegelow, Kjeld, Brok, Jesper Sune, Wadt, Karin A W
Publicado 2023

9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature

por Jensen, Marlene Richter, Stoltze, Ulrik, Hansen, Thomas Van Overeem, Bak, Mads, Sehested, Astrid, Rechnitzer, Catherine, Mathiasen, René, Scheie, David, Larsen, Karen Bonde, Olsen, Tina Elisabeth, Muhic, Aida, Skjøth-Rasmussen, Jane, Rossing, Maria, Schmiegelow, Kjeld, Wadt, Karin
Publicado 2022

Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994–2014: A Nationwide Study

por Mathiesen, Jes Sloth, Kroustrup, Jens Peter, Vestergaard, Peter, Stochholm, Kirstine, Poulsen, Per Løgstrup, Rasmussen, Åse Krogh, Feldt-Rasmussen, Ulla, Gaustadnes, Mette, Ørntoft, Torben Falck, Hansen, Thomas van Overeem, Nielsen, Finn Cilius, Brixen, Kim, Godballe, Christian, Frederiksen, Anja Lisbeth
Publicado 2017

Breast cancer survival in Nordic BRCA2 mutation carriers—unconventional association with oestrogen receptor status

por Olafsdottir, Elinborg J., Borg, Ake, Jensen, Maj-Britt, Gerdes, Anne-Marie, Johansson, Anna L. V., Barkardottir, Rosa B., Johannsson, Oskar T., Ejlertsen, Bent, Sønderstrup, Ida Marie Heeholm, Hovig, Eivind, Lænkholm, Anne-Vibeke, Hansen, Thomas van Overeem, Olafsdottir, Gudridur H., Rossing, Maria, Jonasson, Jon G., Sigurdsson, Stefan, Loman, Niklas, Nilsson, Martin P., Narod, Steven A., Tryggvadottir, Laufey
Publicado 2020

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

por Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D. Gareth R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Del Valle, Jesús, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, Kleibl, Zdenek
Publicado 2023