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Human Genome Variation|October 25, 2019
A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposisMays Altaraihi, Anne-Marie Gerdes, Karin Wadt
Case Reports in Genetics|September 6, 2019
Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin SyndromeGustav Askaner, Ulrikke Lei, Birgitte Bertelsen, et al.
Ugeskrift for Laeger|June 26, 2018
[A family with a congenital DICER1 mutation]Mays Altaraihi, Jens Pedersen, Maria Rossing, et al.
Ugeskrift for Laeger|May 30, 2012
[A new genetic diagnosis of familiar gastrointestinal stromal tumour]Karin Wadt, Mette Klarskov Andersen, Thomas V O Hansen, et al.
Ugeskrift for Laeger|October 9, 2014
[CDKN2A-mutation in a family with hereditary malignant melanoma]Malene Djursby, Karin Wadt, Henrik Lorentzen, et al.
Prenatal Diagnosis|October 16, 2012
Fetal ventriculomegaly due to familial submicroscopic terminal 6q deletionsKarin Wadt, Lisa Neerup Jensen, Lise Bjerglund, et al.
Clinical Case Reports|June 8, 2017
Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrierAnna Byrjalsen, Ane Y Steffensen, Thomas V O Hansen, et al.
European Journal of Human Genetics : EJHG|March 3, 2026
Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countriesKathrin Taxer, Katharina Wimmer, Karin Wadt, et al.
Ugeskrift for Laeger|August 11, 2021
[Genome research project detected TP53mutation in a girl with rhabdomyosarcoma]Ida Behrendt-Møller, Ulrik Stoltze, Lisa Lyngsie Hjalgrim, et al.
Journal of Gastrointestinal Oncology|November 18, 2024
Rare germline chromosome 1 duplication identified in young male with colon cancer: a case report investigating causalityAnna Byrjalsen, Sara L Garcia, Line Borgwardt, et al.
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