A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

por Altaraihi, Mays, Gerdes, Anne-Marie, Wadt, Karin
Publicado 2019

Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

por Askaner, Gustav, Lei, Ulrikke, Bertelsen, Birgitte, Venzo, Alessandro, Wadt, Karin
Publicado 2019

Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

por Byrjalsen, Anna, Steffensen, Ane Y., Hansen, Thomas v. O., Wadt, Karin, Gerdes, Anne‐Marie
Publicado 2017

Molecular reclassification reveals low prevalence of germline predisposition in children with ependymoma

por Foss-Skiftesvik, Jon, Mathiasen, René, van Overeem Hansen, Thomas, Wadt, Karin, Schmiegelow, Kjeld, Stoltze, Ulrik Kristoffer
Publicado 2023

Risk of New Primary Cancer in Patients with Posterior Uveal Melanoma: A National Cohort Study

por Bagger, Mette, Albieri, Vanna, Hindso, Tine Gadegaard, Wadt, Karin, Heegaard, Steffen, Andersen, Klaus Kaae, Kiilgaard, Jens Folke
Publicado 2022

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

Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

por Bakhuizen, Jette J., Hanson, Helen, van der Tuin, Karin, Lalloo, Fiona, Tischkowitz, Marc, Wadt, Karin, Jongmans, Marjolijn C. J.
Publicado 2021

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

por Stoltze, Ulrik, Skytte, Anne-Bine, Roed, Henriette, Hasle, Henrik, Ejlertsen, Bent, van Overeem Hansen, Thomas, Schmiegelow, Kjeld, Gerdes, Anne-Marie, Wadt, Karin
Publicado 2018

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

por Jelsig, Anne Marie, Byrjalsen, Anna, Busk Madsen, Majbritt, Kuhlmann, Tine Plato, van Overeem Hansen, Thomas, Wadt, Karin A W, Karstensen, John Gásdal
Publicado 2021

Exploring the hereditary background of renal cancer in Denmark

por Christensen, Maria Bejerholm, Wadt, Karin, Jensen, Uffe Birk, Lautrup, Charlotte Kvist, Bojesen, Anders, Krogh, Lotte Nylandsted, van Overeem Hansen, Thomas, Gerdes, Anne-Marie
Publicado 2019

Danish guidelines for management of non-APC-associated hereditary polyposis syndromes

por Jelsig, Anne Marie, Karstensen, John Gásdal, Jespersen, Niels, Ketabi, Zohreh, Lautrup, Charlotte, Rønlund, Karina, Sunde, Lone, Wadt, Karin, Thorlacius-Ussing, Ole, Qvist, Niels
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

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome

por Lalloo, Fiona, Kulkarni, Anju, Chau, Cindy, Nielsen, Maartje, Sheaff, Michael, Steele, Jeremy, van Doorn, Remco, Wadt, Karin, Hamill, Monica, Torr, Beth, Tischkowitz, Marc, Hanson, Helen
Publicado 2023

A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers

por Aoude, Lauren G., Wadt, Karin, Bojesen, Anders, Crüger, Dorthe, Borg, Åke, Trent, Jeffrey M., Brown, Kevin M., Gerdes, Anne-Marie, Jönsson, Göran, Hayward, Nicholas K.
Publicado 2013

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

A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome

por Bache, Iben, Wadt, Karin, Mehrjouy, Mana M., Rossing, Maria, Østrup, Olga, Byrjalsen, Anna, Tommerup, Niels, Metzner, Marlen, Vyas, Paresh, Schmiegelow, Kjeld, Lausen, Birgitte, Andersen, Mette K.
Publicado 2020

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

por Djursby, Malene, Wadt, Karin, Frederiksen, Jane Hübertz, Madsen, Majbritt Busk, Berchtold, Lukas Adrian, Hasselby, Jane Preuss, Willemoe, Gro Linno, Hansen, Thomas v. O., Gerdes, Anne-Marie
Publicado 2020

The genetic evolution of metastatic uveal melanoma

por Shain, A. Hunter, Bagger, Mette M., Yu, Richard, Chang, Darwin, Liu, Shanshan, Vemula, Swapna, Weier, Jingly F., Wadt, Karin, Heegaard, Steffen, Bastian, Boris C., Kiilgaard, Jens F.
Publicado 2019

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