Novel Genetic Causes of Gastrointestinal Polyposis Syndromes by Jelsig AM, Byrjalsen A, Busk Madsen M, Kuhlmann TP, van Overeem Hansen T, Wadt KAW, Karstensen JG

Get full text

Molecular reclassification reveals low prevalence of germline predisposition in children with ependymoma by Jon Foss-Skiftesvik, René Mathiasen, Thomas van Overeem Hansen, Karin Wadt, Kjeld Schmiegelow, Ulrik Kristoffer Stoltze

Get full text

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the <i>BRCA1</i> and <i>BRCA2</i> Genes by Laura Caleca, Mara Colombo, Thomas van Overeem Hansen, Conxi Lázaro, Siranoush Manoukian, Michael T. Parsons, Amanda B. Spurdle, Paolo Radice

Get full text

Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort by Mays Altaraihi, Thomas van Overeem Hansen, Eric Santoni-Rugiu, Maria Rossing, Åse Krogh Rasmussen, Anne-Marie Gerdes, Karin Wadt

Get full text

The evolutionary impact of childhood cancer on the human gene pool by Ulrik Kristoffer Stoltze, Jon Foss-Skiftesvik, Thomas van Overeem Hansen, Simon Rasmussen, Konrad J. Karczewski, Karin A. W. Wadt, Kjeld Schmiegelow

Get full text

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark. by Ulrik Stoltze, Anne-Bine Skytte, Henriette Roed, Henrik Hasle, Bent Ejlertsen, Thomas van Overeem Hansen, Kjeld Schmiegelow, Anne-Marie Gerdes, Karin Wadt

Get full text

Exploring the hereditary background of renal cancer in Denmark. by Maria Bejerholm Christensen, Karin Wadt, Uffe Birk Jensen, Charlotte Kvist Lautrup, Anders Bojesen, Lotte Nylandsted Krogh, Thomas van Overeem Hansen, Anne-Marie Gerdes

Get full text

The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification by Anna Byrjalsen, Ulrik Stoltze, Mana Mehrjouy, Jane Hübertz Frederiksen, Mads Bak, Ulf Birkedal, Henrik Hasle, Anne‐Marie Gerdes, Kjeld Schmiegelow, Karin Wadt, Thomas van Overeem Hansen

Get full text

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants by Ulrik Kristoffer Stoltze, Christian Munch Hagen, Thomas van Overeem Hansen, Anna Byrjalsen, Anne-Marie Gerdes, Victor Yakimov, Simon Rasmussen, Marie Bækvad-Hansen, David Michael Hougaard, Kjeld Schmiegelow, Henrik Hjalgrim, Karin Wadt, Jonas Bybjerg-Grauholm

Get full text

Population-based whole-genome sequencing with constrained gene analysis identifies predisposing germline variants in children with central nervous system tumors by J. Foss-Skiftesvik, U. Stoltze, T. van Overeem Hansen, A. Byrjalsen, A. Sehested, D. Scheie, T. Stamm Mikkelsen, S. Rasmussen, M. Bak, H. Okkels, M.T. Callesen, J. Skjøth-Rasmussen, A.-M. Gerdes, K. Schmiegelow, R. Mathiasen, K. Wadt

Get full text

TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma by Marlene Richter Jensen, Anne Marie Jelsig, Anne-Marie Gerdes, Lisbet Rosenkrantz Hölmich, Kati Hannele Kainu, Henrik Frank Lorentzen, Mary Højgaard Hansen, Mads Bak, Peter A. Johansson, Nicholas K. Hayward, Thomas Van Overeem Hansen, Karin A.W. Wadt

Get full text

Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort by Jon Foss-Skiftesvik, Ulrik Kristoffer Stoltze, Thomas van Overeem Hansen, Lise Barlebo Ahlborn, Erik Sørensen, Sisse Rye Ostrowski, Solvej Margrete Aldringer Kullegaard, Adrian Otamendi Laspiur, Linea Cecilie Melchior, David Scheie, Bjarne Winther Kristensen, Jane Skjøth-Rasmussen, Kjeld Schmiegelow, Karin Wadt, René Mathiasen

Get full text

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families by Yang, Xin, Leslie, Goska, Doroszuk, Alicja, Schneider, Sandra, Allen, Jamie, Decker, Brennan, Dunning, Alison M., Redman, James, Scarth, James, Plaskocinska, Inga, Luccarini, Craig, Shah, Mitul, Pooley, Karen, Dorling, Leila, Lee, Andrew, Adank, Muriel A., Adlard, Julian, Aittomäki, Kristiina, Andrulis, Irene L., Ang, Peter, Barwell, Julian, Bernstein, Jonine L., Bobolis, Kristie, Borg, Åke, Blomqvist, Carl, Claes, Kathleen B.M., Concannon, Patrick, Cuggia, Adeline, Culver, Julie O., Damiola, Francesca, de Pauw, Antoine, Diez, Orland, Dolinsky, Jill S., Domchek, Susan M., Engel, Christoph, Evans, D. Gareth, Fostira, Florentia, Garber, Judy, Golmard, Lisa, Goode, Ellen L., Gruber, Stephen B., Hahnen, Eric, Hake, Christopher, Heikkinen, Tuomas, Hurley, Judith E., Janavicius, Ramunas, Kleibl, Zdenek, Kleiblova, Petra, Konstantopoulou, Irene, Kvist, Anders, Laduca, Holly, Lee, Ann S.G., Lesueur, Fabienne, Maher, Eamonn R., Mannermaa, Arto, Manoukian, Siranoush, McFarland, Rachel, McKinnon, Wendy, Meindl, Alfons, Metcalfe, Kelly, Mohd Taib, Nur Aishah, Moilanen, Jukka, Nathanson, Katherine L., Neuhausen, Susan, Ng, Pei Sze, Nguyen-Dumont, Tu, Nielsen, Sarah M., Obermair, Florian, Offit, Kenneth, Olopade, Olufunmilayo I., Ottini, Laura, Penkert, Judith, Pylkäs, Katri, Radice, Paolo, Ramus, Susan J., Rudaitis, Vilius, Side, Lucy, Silva-Smith, Rachel, Silvestri, Valentina, Skytte, Anne-Bine, Slavin, Thomas, Soukupova, Jana, Tondini, Carlo, Trainer, Alison H., Unzeitig, Gary, Usha, Lydia, van Overeem Hansen, Thomas, Whitworth, James, Wood, Marie, Yip, Cheng Har, Yoon, Sook-Yee, Yussuf, Amal, Zogopoulos, George, Goldgar, David, Hopper, John L., Chenevix-Trench, Georgia, Pharoah, Paul, George, Sophia H.L., Balmaña, Judith, Houdayer, Claude, James, Paul, El-Haffaf, Zaki, Ehrencrona, Hans, Janatova, Marketa, Peterlongo, Paolo, Nevanlinna, Heli, Schmutzler, Rita, Teo, Soo Hwang, Robson, Mark, Pal, Tuya, Couch, Fergus, Weitzel, Jeffrey N., Elliott, Aaron, Southey, Melissa, Winqvist, Robert, Easton, Douglas F., Foulkes, William D., Antoniou, Antonis C., Tischkowitz, Marc

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium by Pål Møller, Toni Seppälä, James G. Dowty, Saskia Haupt, Mev Dominguez-Valentin, Lone Sunde, Inge Bernstein, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capella, Dafydd Gareth Evans, John Burn, Elke Holinski-Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship, John-Paul Plazzer, Rolf Sijmons, Luigi Laghi, Adriana Della Valle, Karl Heinimann, Elizabeth Half, Francisco Lopez-Koestner, Karin Alvarez-Valenzuela, Rodney J. Scott, Lior Katz, Ido Laish, Elez Vainer, Carlos Alberto Vaccaro, Dirce Maria Carraro, Nathan Gluck, Naim Abu-Freha, Aine Stakelum, Rory Kennelly, Des Winter, Benedito Mauro Rossi, Marc Greenblatt, Mabel Bohorquez, Harsh Sheth, Maria Grazia Tibiletti, Leonardo S. Lino-Silva, Karoline Horisberger, Carmen Portenkirchner, Ivana Nascimento, Norma Teresa Rossi, Leandro Apolinário da Silva, Huw Thomas, Attila Zaránd, Jukka-Pekka Mecklin, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepisto, Päivi Peltomäki, Christina Therkildsen, Lars Joachim Lindberg, Ole Thorlacius-Ussing, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Verena Steinke-Lange, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Robert Hüneburg, Aída Falcón de Vargas, Andrew Latchford, Anne-Marie Gerdes, Ann-Sofie Backman, Carmen Guillén-Ponce, Carrie Snyder, Charlotte K. Lautrup, David Amor, Edenir Palmero, Elena Stoffel, Floor Duijkers, Michael J. Hall, Heather Hampel, Heinric Williams, Henrik Okkels, Jan Lubiński, Jeanette Reece, Joanne Ngeow, Jose G. Guillem, Julie Arnold, Karin Wadt, Kevin Monahan, Leigha Senter, Lene J. Rasmussen, Liselotte P. van Hest, Luigi Ricciardiello, Maija R. J. Kohonen-Corish, Marjolijn J. L. Ligtenberg, Melissa Southey, Melyssa Aronson, Mohd N. Zahary, N. Jewel Samadder, Nicola Poplawski, Nicoline Hoogerbrugge, Patrick J. Morrison, Paul James, Grant Lee, Rakefet Chen-Shtoyerman, Ravindran Ankathil, Rish Pai, Robyn Ward, Susan Parry, Tadeusz Dębniak, Thomas John, Thomas van Overeem Hansen, Trinidad Caldés, Tatsuro Yamaguchi, Verónica Barca-Tierno, Pilar Garre, Giulia Martina Cavestro, Jürgen Weitz, Silke Redler, Reinhard Büttner, Vincent Heuveline, John L. Hopper, Aung Ko Win, Noralane Lindor, Steven Gallinger, Loïc Le Marchand, Polly A. Newcomb, Jane Figueiredo, Daniel D. Buchanan, Stephen N. Thibodeau, Sanne W. ten Broeke, Eivind Hovig, Sigve Nakken, Marta Pineda, Nuria Dueñas, Joan Brunet, Kate Green, Fiona Lalloo, Katie Newton, Emma J. Crosbie, Miriam Mints, Douglas Tjandra, Florencia Neffa, Patricia Esperon, Revital Kariv, Guy Rosner, Walter Hernán Pavicic, Pablo Kalfayan, Giovana Tardin Torrezan, Thiago Bassaneze, Claudia Martin, Gabriela Moslein, Aysel Ahadova, Matthias Kloor, Julian R. Sampson, Mark A. Jenkins, The European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC)

Get full text