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1.

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

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.

J Med Genet ; 60(9): 842-849, 2023 09.

Artículo en Inglés | MEDLINE | ID: mdl-37019617

2.

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen, Anna; Hansen, Thomas V O; Stoltze, Ulrik K; Mehrjouy, Mana M; Barnkob, Nanna Moeller; Hjalgrim, Lisa L; Mathiasen, René; Lautrup, Charlotte K; Gregersen, Pernille A; Hasle, Henrik; Wehner, Peder S; Tuckuviene, Ruta; Sackett, Peter Wad; Laspiur, Adrian O; Rossing, Maria; Marvig, Rasmus L; Tommerup, Niels; Olsen, Tina Elisabeth; Scheie, David; Gupta, Ramneek; Gerdes, Anne-Marie; Schmiegelow, Kjeld; Wadt, Karin.

PLoS Genet ; 16(12): e1009231, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-33332384

3.

Background sensitivity to chemotherapy-induced nausea and vomiting and response to antiemetics in paediatric patients: a genetic association study.

Eliasen, Astrid; Kornholt, Jonatan; Mathiasen, René; Wadt, Karin; Stoltze, Ulrik; Brok, Jesper; Rechnitzer, Catherine; Schmiegelow, Kjeld; Dalhoff, Kim.

Pharmacogenet Genomics ; 32(2): 72-78, 2022 02 01.

Artículo en Inglés | MEDLINE | ID: mdl-34750329

4.

Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer.

Djursby, Malene; Hansen, Thomas van Overeem; Wadt, Karin A W; Madsen, Majbritt Busk; Berchtold, Lukas Adrian; Lautrup, Charlotte Kvist; Markholt, Sara; Jensen, Uffe Birk; Krogh, Lotte Nylandsted; Lundsgaard, Malene; Gerdes, Anne Marie; Nilbert, Mef; Therkildsen, Christina.

Hum Genet ; 141(12): 1925-1933, 2022 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-35904628

5.

Risk of somatic hospitalization in parents after cancer in a child, a nationwide cohort study.

von Heymann, Annika; Alef-Defoe, Sierra; Salem, Hanin; Andersen, Elisabeth Anne Wreford; Dalton, Susanne Oksbjerg; Schmiegelow, Kjeld; Wadt, Karin A W; Winther, Jeanette Falck; Johansen, Christoffer; Bidstrup, Pernille Envold.

Psychooncology ; 31(7): 1196-1203, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35194898

6.

Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma.

Schedel, Anne; Friedrich, Ulrike Anne; Morcos, Mina N F; Wagener, Rabea; Mehtonen, Juha; Watrin, Titus; Saitta, Claudia; Brozou, Triantafyllia; Michler, Pia; Walter, Carolin; Försti, Asta; Baksi, Arka; Menzel, Maria; Horak, Peter; Paramasivam, Nagarajan; Fazio, Grazia; Autry, Robert J; Fröhling, Stefan; Suttorp, Meinolf; Gertzen, Christoph; Gohlke, Holger; Bhatia, Sanil; Wadt, Karin; Schmiegelow, Kjeld; Dugas, Martin; Richter, Daniela; Glimm, Hanno; Heinäniemi, Merja; Jessberger, Rolf; Cazzaniga, Gianni; Borkhardt, Arndt; Hauer, Julia; Auer, Franziska.

Int J Mol Sci ; 23(9)2022 May 05.

Artículo en Inglés | MEDLINE | ID: mdl-35563565

7.

Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families.

Lacson, John Charles A; Zamani, Shawn A; Froes, Luis Alberto Ribeiro; Mitra, Nandita; Qian, Lu; Doyle, Scarlet H; Azizi, Esther; Balestrini, Claudia; Bishop, D Timothy; Bruno, William; Carlos-Ortega, Blanca; Cuellar, Francisco; Cust, Anne E; Elder, David E; Gerdes, Anne-Marie; Ghiorzo, Paola; Grazziotin, Thais C; Gruis, Nelleke A; Hansson, Johan; Hocevar, Marko; Höiom, Veronica; Holland, Elizabeth A; Ingvar, Christian; Landman, Gilles; Larre-Borges, Alejandra; Mann, Graham J; Molgo, Montserrat; Moredo, Luciana Facure; Olsson, Håkan; Out-Luiting, Jacoba J; Peric, Barbara; Pjanova, Dace; Puig, Susana; Salas-Alanis, Julio; Schmid, Helen; Wadt, Karin A W; Newton-Bishop, Julia A; Kanetsky, Peter A.

BMC Public Health ; 21(1): 692, 2021 04 23.

Artículo en Inglés | MEDLINE | ID: mdl-33888076

8.

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

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

Hered Cancer Clin Pract ; 19(1): 41, 2021 Oct 07.

Artículo en Inglés | MEDLINE | ID: mdl-34620187

9.

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

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.

Hered Cancer Clin Pract ; 18: 8, 2020.

Artículo en Inglés | MEDLINE | ID: mdl-32292534

10.

Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.

Taylor, Nicholas J; Mitra, Nandita; Qian, Lu; Avril, Marie-Françoise; Bishop, D Timothy; Bressac-de Paillerets, Brigitte; Bruno, William; Calista, Donato; Cuellar, Francisco; Cust, Anne E; Demenais, Florence; Elder, David E; Gerdes, Anne-Marie; Ghiorzo, Paola; Goldstein, Alisa M; Grazziotin, Thais C; Gruis, Nelleke A; Hansson, Johan; Harland, Mark; Hayward, Nicholas K; Hocevar, Marko; Höiom, Veronica; Holland, Elizabeth A; Ingvar, Christian; Landi, Maria Teresa; Landman, Gilles; Larre-Borges, Alejandra; Mann, Graham J; Nagore, Eduardo; Olsson, Håkan; Palmer, Jane M; Peric, Barbara; Pjanova, Dace; Pritchard, Antonia L; Puig, Susana; Schmid, Helen; van der Stoep, Nienke; Tucker, Margaret A; Wadt, Karin A W; Yang, Xiaohong R; Newton-Bishop, Julia A; Kanetsky, Peter A.

J Am Acad Dermatol ; 81(2): 386-394, 2019 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-30731170

11.

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

Stoltze, Ulrik Kristoffer; Hansen, Thomas Van Overeem; Brok, Jesper Sune; Grønskov, Karen; Tumer, Zeynep; Ahlborn, Lise Barlebo; Schmiegelow, Kjeld; Wadt, Karin A W.

J Med Genet ; 60(2): 128-130, 2023 02.

Artículo en Inglés | MEDLINE | ID: mdl-35772845

12.

Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41.

Diness, Birgitte R; Risom, Lotte; Frandsen, Thomas L; Hansen, Bente; Andersen, Mette K; Schmiegelow, Kjeld; Wadt, Karin A W.

Genes Chromosomes Cancer ; 57(12): 670-674, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-30144193

13.

Pediatric cancer families' participation in whole-genome sequencing research in Denmark: Parent perspectives.

Byrjalsen, Anna; Stoltze, Ulrik; Wadt, Karin; Hjalgrim, Lisa Lyngsie; Gerdes, Anne-Marie; Schmiegelow, Kjeld; Wahlberg, Ayo.

Eur J Cancer Care (Engl) ; 27(6): e12877, 2018 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-30016002

14.

Melanoma genetics.

Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K.

J Med Genet ; 53(1): 1-14, 2016 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-26337759

15.

National Experiences from 30 Years of Provider-Mediated Cascade Testing in Lynch Syndrome Families-The Danish Model.

Lindberg, Lars Joachim; Wadt, Karin A W; Therkildsen, Christina; Petersen, Helle Vendel.

Cancers (Basel) ; 16(8)2024 Apr 20.

Artículo en Inglés | MEDLINE | ID: mdl-38672659

16.

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze, Ulrik Kristoffer; Foss-Skiftesvik, Jon; Hansen, Thomas van Overeem; Rasmussen, Simon; Karczewski, Konrad J; Wadt, Karin A W; Schmiegelow, Kjeld.

Nat Commun ; 15(1): 1881, 2024 Feb 29.

Artículo en Inglés | MEDLINE | ID: mdl-38424437

17.

Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.

Hammer-Hansen, Sophia; Stoltze, Ulrik; Bartels, Emil; Hansen, Thomas van Overeem; Byrjalsen, Anna; Tybjærg-Hansen, Anne; Juul, Klaus; Schmiegelow, Kjeld; Tfelt, Jacob; Bundgaard, Henning; Wadt, Karin; Diness, Birgitte Rode.

Eur J Hum Genet ; 2024 May 13.

Artículo en Inglés | MEDLINE | ID: mdl-38740897

18.

RosettaDDGPrediction for high-throughput mutational scans: From stability to binding.

Sora, Valentina; Laspiur, Adrian Otamendi; Degn, Kristine; Arnaudi, Matteo; Utichi, Mattia; Beltrame, Ludovica; De Menezes, Dayana; Orlandi, Matteo; Stoltze, Ulrik Kristoffer; Rigina, Olga; Sackett, Peter Wad; Wadt, Karin; Schmiegelow, Kjeld; Tiberti, Matteo; Papaleo, Elena.

Protein Sci ; 32(1): e4527, 2023 01.

Artículo en Inglés | MEDLINE | ID: mdl-36461907

19.

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.

Stoltze, Ulrik Kristoffer; Hagen, Christian Munch; van Overeem Hansen, Thomas; Byrjalsen, Anna; Gerdes, Anne-Marie; Yakimov, Victor; Rasmussen, Simon; Bækvad-Hansen, Marie; Hougaard, David Michael; Schmiegelow, Kjeld; Hjalgrim, Henrik; Wadt, Karin; Bybjerg-Grauholm, Jonas.

Genome Med ; 15(1): 17, 2023 03 14.

Artículo en Inglés | MEDLINE | ID: mdl-36918911

20.

New pathogenic germline variants identified in mesothelioma.

Belcaid, Laila; Bertelsen, Birgitte; Wadt, Karin; Tuxen, Ida; Spanggaard, Iben; Højgaard, Martin; Benn Sørensen, Jens; Ravn, Jesper; Lassen, Ulrik; Cilius Nielsen, Finn; Rohrberg, Kristoffer; Westmose Yde, Christina.

Lung Cancer ; 179: 107172, 2023 05.

Artículo en Inglés | MEDLINE | ID: mdl-36944283

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