Thomas van Overeem Hansen

Thomas van Overeem Hansen

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 57 out of 57Page size: 500
  1. 2024
  2. Published

    Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK

    Boelman, M. B., Hansen, Thomas van Overeem, Smith, M. N., Hammer-Hansen, S., Christensen, Alex Hørby & Diness, Birgitte Rode, 2024, In: American Journal of Medical Genetics, Part A. 194, 3, 6 p., e63458.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

    InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel, I. H. C. C. V. C. E. P., 2024, In: Genetics in Medicine. 26, 2, 21 p., 100992.

    Research output: Contribution to journal › Journal article › Research › peer-review

  4. Published

    Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

    Block, I., Mateu-Regué, À., Do, T. T. N., Miceikaite, I., Sdogati, D., Larsen, M. J., Hao, Q., Nielsen, H. R., Boonen, S. E., Skytte, A. B., Jensen, U. B., Høffding, L. K., De Nicolo, A., Viel, A., Tudini, E., Parsons, M. T., Hansen, T. V. O., Rossing, M., Kruse, T. A., Spurdle, A. B. & 1 others, Thomassen, M., 2024, In: Breast Cancer Research. 26, 1, 14 p., 6.

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. Accepted/In press

    Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome

    Barington, M., Bak, M., Kjartansdóttir, K. R., Hansen, Thomas van Overeem, Birkedal, U., Østergaard, Elsebet & Hove, H. B., 2024, (Accepted/In press) In: American Journal of Medical Genetics, Part A.

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. Accepted/In press

    Predicting the impact of rare variants on RNA splicing in CAGI6

    Lord, J., Oquendo, C. J., Wai, H. A., Douglas, A. G. L., Bunyan, D. J., Wang, Y., Hu, Z., Zeng, Z., Danis, D., Katsonis, P., Williams, A., Lichtarge, O., Chang, Y., Bagnall, R. D., Mount, S. M., Matthiasardottir, B., Lin, C., Hansen, T. V. O., Leman, R., Martins, A. & 7 others, Houdayer, C., Krieger, S., Bakolitsa, C., Peng, Y., Kamandula, A., Radivojac, P. & Baralle, D., 2024, (Accepted/In press) In: Human Genetics.

    Research output: Contribution to journal › Journal article › Research › peer-review

  7. Published

    Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study

    Karstensen, John Gásdal, Hansen, Thomas van Overeem, Burisch, J., Djursby, M., Højen, H., Madsen, M. B., Jespersen, N. & Jelsig, A. M., 2024, In: European Journal of Human Genetics. 32, 5, p. 588-592 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  8. Published

    The evolutionary impact of childhood cancer on the human gene pool

    Stoltze, U. K., Foss-Skiftesvik, J., Hansen, Thomas van Overeem, Rasmussen, Simon, Karczewski, K. J., Wadt, Karin Anna Wallentin & Schmiegelow, Kjeld, 2024, In: Nature Communications. 15, 15 p., 1881.

    Research output: Contribution to journal › Journal article › Research › peer-review

  9. 2023
  10. Published

    TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma

    Jensen, M. R., Jelsig, A. M., Gerdes, Anne-Marie Axø, Hølmich, Lisbet Rosenkrantz, mzt627, mzt627, Lorentzen, H. F., Hansen, M. H., Bak, M., Johansson, P. A., Hayward, N. K., Hansen, Thomas van Overeem & Wadt, Karin Anna Wallentin, 2023, In: Human Genetics and Genomics Advances. 4, 4, 12 p., 100225.

    Research output: Contribution to journal › Journal article › Research › peer-review

  11. Published

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

    Stoltze, U. K., Hagen, C. M., Hansen, Thomas van Overeem, Byrjalsen, A., Gerdes, Anne-Marie Axø, Yakimov, V., Rasmussen, Simon, Bækvad-Hansen, M., Hougaard, D. M., Schmiegelow, Kjeld, Hjalgrim, Henrik, Wadt, Karin Anna Wallentin & Bybjerg-Grauholm, J., 2023, In: Genome Medicine. 15, 12 p., 17.

    Research output: Contribution to journal › Journal article › Research › peer-review

  12. Published

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

    Stolarova, L., Kleiblova, P., Zemankova, P., Stastna, B., Janatova, M., Soukupova, J., Achatz, M. I., Ambrosone, C., Apostolou, P., Arun, B. K., Auer, P., Barnard, M., Bertelsen, B., Japan, B., Blok, M. J., Boddicker, N., Brunet, J., Burnside, E. S., Calvello, M., Campbell, I. & 92 others, Chan, S. H., Chen, F., Chiang, J. B., Coppa, A., Cortesi, L., Crujeiras-González, A., Czecanca, C., De Leeneer, K., De Putter, R., DePersia, A., Devereux, L., Domchek, S., Efremidis, A., Engel, C., Ernst, C., Evans, G. D. R., Feliubadaló, L., Fostira, F., Fuentes-Ríos, O., Gómez-García, E. B., González, S., Haiman, C., Hansen, Thomas van Overeem, Hauke, J., Hodge, J., Hu, C., Huang, H., Binte Ishak, N. D., Iwasaki, Y., Konstantopoulou, I., Kraft, P., Lacey, J., Lázaro, C., Li, N., Lim, W. K., Lindstrom, S., Lori, A., Martinez, E., Martins, A., Matsuda, K., Matullo, G., McInerny, S., Michailidou, K., Montagna, M., Monteiro, A. N. A., Mori, L., Nathanson, K., Neuhausen, S. L., Nevanlinna, H., Olson, J. E., Palmer, J., Pasini, B., Patel, A., Piane, M., Poppe, B., Radice, P., Renieri, A., Resta, N., Richardson, M. E., Rosseel, T., Ruddy, K. J., Santamariña, M., Dos Santos, E. S., Teras, L., Toland, A. E., Trentham-Dietz, A., Vachon, C. M., Volk, A. E., Weber-Lassalle, N., Weitzel, J. N., Wiesmuller, L., Winham, S., Yadav, S., Yannoukakos, D., Yao, S., Zampiga, V., Zethoven, M., Zhang, Z. W., Zima, T., Spurdle, A. B., Vega, A., Rossing, M., Valle, J. D., De Nicolo, A., Hahnen, E., Claes, K. B. M., Ngeow, J., Momozawa, Y., James, P. A., Couch, F. J., Macurek, L. & Kleibl, Z., 2023, In: Clinical Cancer Research. 29, 16, p. 3037-3050 14 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  13. Published

    Genetic predisposition & evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors

    Stoltze, U. K., Foss-Skiftesvik, J., Hansen, Thomas van Overeem, Byrjalsen, A., Sehested, A., Scheie, David, Mikkelsen, T. S., Rasmussen, Simon, Bak, M., Okkels, H., Callesen, M. T., Skjøth-Rasmussen, J., Gerdes, Anne-Marie Axø, Schmiegelow, Kjeld, Mathiasen, R. & Wadt, Karin Anna Wallentin, 2023, In: Neuro-Oncology. 25, 4, p. 761-773

    Research output: Contribution to journal › Journal article › Research › peer-review

  14. Published

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

    Stoltze, U. K., Hildonen, M., Hansen, Thomas van Overeem, Foss-Skiftesvik, J., Byrjalsen, A., Lundsgaard, M., Pignata, L., Grønskov, K., Tümer, Asuman Zeynep, Schmiegelow, Kjeld, Brok, J. S. & Wadt, Karin Anna Wallentin, 2023, In: Journal of Medical Genetics. 60, 9, p. 842-849

    Research output: Contribution to journal › Journal article › Research › peer-review

  15. Published

    Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy

    Barington, M., Dunø, M., Birkedal, U., Vissing, John, Born, A. P., Krag, T., Hansen, Thomas van Overeem & Østergaard, Elsebet, 2023, In: Neuromuscular Disorders. 33, 7, p. 539-545 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  16. Published

    Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps

    Jelsig, A. M., Rønlund, K., Gede, L. B., Frederiksen, J. H., Karstensen, John Gásdal, Birkedal, U. & Hansen, Thomas van Overeem, 2023, In: Journal of Human Genetics. 68, p. 721-724 4 p.

    Research output: Contribution to journal › Letter › Research › peer-review

  17. Published

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

    Stoltze, U. K., Hansen, Thomas van Overeem, Brok, J. S., Gronskov, K., Tümer, Asuman Zeynep, Ahlborn, L. B., Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 2023, In: Journal of Medical Genetics. 60, 2, p. 128-130 3 p., 108335.

    Research output: Contribution to journal › Journal article › Research › peer-review

  18. Published

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

    Foss-Skiftesvik, J., Mathiasen, René, Hansen, Thomas van Overeem, Wadt, Karin Anna Wallentin, Schmiegelow, Kjeld & Stoltze, U. K., 2023, In: Acta Neuropathologica Communications. 11, 1, 94.

    Research output: Contribution to journal › Comment/debate › Research › peer-review

  19. Published

    Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

    AOCS Group, A. G., CZECANCA Consortium, C. C., The Consortium of Investigators of Modifiers of BRCA1/2, T. C. O. I. O. M. O. B., Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium, E. N. F. T. I. O. G. M. A. C., HEBON Investigators, H. I. & GEMO Study Collaborators, G. S. C., 2023, In: British Journal of Cancer. 128, 12, p. 2283-2294 12 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  20. Published

    Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study

    Jelsig, A. M., Hansen, Thomas van Overeem, Gede, L. B., Qvist, N., Christensen, L. L., Lautrup, C. K., Frederiksen, J. H., Sunde, L., Ousager, L. B., Ljungmann, K., Bertelsen, B. & Karstensen, John Gásdal, 2023, In: Clinical Genetics. 104, 1, p. 81-89 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  21. Published

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

    Byrjalsen, A., Stoltze, U., Mehrjouy, M., Frederiksen, J. H., Bak, M., Birkedal, U., Hasle, H., Gerdes, Anne-Marie Axø, Schmiegelow, Kjeld, Wadt, Karin Anna Wallentin & Hansen, Thomas van Overeem, 2023, In: Molecular Genetics and Genomic Medicine. 11, 10, 7 p., e2232.

    Research output: Contribution to journal › Journal article › Research › peer-review

  22. Published

    Update of penetrance estimates in Birt-Hogg-Dubé syndrome

    Bruinsma, F. J., Dowty, J. G., Win, A. K., Goddard, L. C., Agrawal, P., Attina', D., Bissada, N., De Luise, M., Eisen, D. B., Furuya, M., Gasparre, G., Genuardi, M., Gerdes, A. M., Hansen, T. V. O., Houweling, A. C., Johannesma, P. C., Lencastre, A., Lim, D., Lindor, N. M., Luzzi, V. & 20 others, Lynch, M., Maffé, A., Menko, F. H., Michels, G., Pulido, J. S., Ryu, J. H., Sattler, E. C., Steinlein, O. K., Tomassetti, S., Tucker, K., Turchetti, D., Van De Beek, I., Van Riel, L., Van Steensel, M., Zenone, T., Zompatori, M., Walsh, J., Bondavalli, D., Maher, E. R. & Winship, I. M., 2023, In: Journal of Medical Genetics. 60, 4, p. 317-326 10 p.

    Research output: Contribution to journal › Review › Research › peer-review

  23. Published

    Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study

    Jelsig, A. M., Hansen, Thomas van Overeem, Gede, L. B., Qvist, N., Christensen, L. L., Lautrup, C. K., Ljungmann, K., Christensen, L. T., Rønlund, K., Tørring, P. M., Bertelsen, B., Sunde, Lone & Karstensen, John Gásdal, 2023, In: Familial Cancer. 22, p. 429–436 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  24. 2022
  25. Published

    Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

    GEMO Study Collaborators, G. S. C., EMBRACE Collaborators, E. C., kConFab Investigators, K. I., HEBON Investigators, H. I., BRCA1, B. & BRCA2, B., Jan 2022, In: National Cancer Institute. Journal (Online). 114, 1, p. 109-122 14 p., 147.

    Research output: Contribution to journal › Journal article › Research › peer-review

  26. Published

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

    Jensen, M. R., Stoltze, U., Hansen, Thomas van Overeem, Bak, M., Sehested, A., Rechnitzer, C., Mathiasen, René, Scheie, David, Larsen, K. B., Olsen, T. E., Muhic, A., Skjøth, Jane, Rossing, Caroline Maria, Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 2022, In: Cold Spring Harbor molecular case studies. 8, 4, a006164.

    Research output: Contribution to journal › Review › Research › peer-review

  27. Published

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

    Djursby, M., Hansen, Thomas van Overeem, Wadt, Karin Anna Wallentin, Madsen, M. B., Berchtold, L. A., Lautrup, C. K., Markholt, S., Jensen, U. B., Krogh, L. N., Lundsgaard, M., Gerdes, Anne-Marie Axø, Nilbert, Mef Christina & Therkildsen, C., 2022, In: Human Genetics. 141, p. 1925–1933

    Research output: Contribution to journal › Journal article › Research › peer-review

  28. Published

    Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

    Thomassen, M., Mesman, R. L. S., Hansen, T. V. O., Menendez, M., Rossing, M., Esteban-Sánchez, A., Tudini, E., Törngren, T., Parsons, M. T., Pedersen, I. S., Teo, S. H., Kruse, T. A., Møller, P., Borg, Å., Jensen, U. B., Christensen, L. L., Singer, C. F., Muhr, D., Santamarina, M., Brandao, R. & 30 others, Andresen, B. S., Feng, B., Canson, D., Richardson, M. E., Karam, R., Pesaran, T., LaDuca, H., Conner, B. R., Abualkheir, N., Hoang, L., Calléja, F. M. G. R., Andrews, L., James, P. A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D. E., Walker, L. C., Engel, C., Claes, K. B. M., Macháčková, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., Vreeswijk, M. P. G., de la Hoya, M., Spurdle, A. B. & ENIGMA Consortium, E. C., 2022, In: Human Mutation. 43, 12, p. 1921-1944

    Research output: Contribution to journal › Journal article › Research › peer-review

  29. Published

    Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

    The European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC), T. E. H. T. G. (. A. T. I. M. R. C. (., 2022, In: Hereditary Cancer in Clinical Practice. 20, 36.

    Research output: Contribution to journal › Journal article › Research › peer-review

  30. Published

    Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    Hakkaart, C., Pearson, J. F., Marquart, L., Dennis, J., Wiggins, G. A. R., Barnes, D. R., Robinson, B. A., Mace, P. D., Aittomäki, K., Andrulis, I. L., Arun, B. K., Azzollini, J., Balmaña, J., Barkardottir, R. B., Belhadj, S., Berger, L., Blok, M. J., Boonen, S. E., Borde, J., Bradbury, A. R. & 36 others, Brunet, J., Buys, S. S., Caligo, M. A., Campbell, I., Chung, W. K., Claes, K. B. M., Collonge-Rame, M., Cook, J., Cosgrove, C., Couch, F. J., Daly, M. B., Dandiker, S., Davidson, R., de la Hoya, M., de Putter, R., Delnatte, C., Dhawan, M., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Easton, D. F., Ehrencrona, H., Engel, C., Evans, D. G., Faust, U., Feliubadaló, L., Fostira, F., Hansen, Thomas van Overeem, Rossing, Caroline Maria, GEMO Study Collaborators, G. S. C., EMBRACE Collaborators, E. C., SWE-BRCA Investigators, S. I., kConFab Investigators, K. I. & HEBON Investigators, H. I., 2022, In: Communications Biology . 5, 15 p., 1061.

    Research output: Contribution to journal › Journal article › Research › peer-review

  31. Published

    Polygenic risk modeling for prediction of epithelial ovarian cancer risk

    Dareng, E. O., Tyrer, J. P., Barnes, D. R., Jones, M. R., Yang, X., Aben, K. K. H., Adank, M. A., Agata, S., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Aravantinos, G., Arun, B. K., Augustinsson, A., Balmaña, J., Bandera, E. V., Barkardottir, R. B., Barrowdale, D., Beckmann, M. W., Beeghly-Fadiel, A. & 39 others, Benitez, J., Bermisheva, M., Bernardini, M. Q., Bjorge, L., Black, A., Bogdanova, N. V., Bonanni, B., Borg, A., Brenton, J. D., Budzilowska, A., Butzow, R., Buys, S. S., Cai, H., Caligo, M. A., Campbell, I., Cannioto, R., Cassingham, H., Chang-Claude, J., Chanock, S. J., Chen, K., Chiew, Y. E., Chung, W. K., Claes, K. B. M., Colonna, S., Hansen, Thomas van Overeem, Høgdall, Estrid Vilma Solyom, Høgdall, Claus Kim, Jensen, A., Kjær, Susanne Krüger, Nielsen, Finn Cilius, GEMO Study Collaborators, G. S. C., GC-HBOC Study Collaborators, G. S. C., EMBRACE Collaborators, E. C., OPAL Study Group, O. S. G., AOCS Group, A. G., kConFab Investigators, K. I., HEBON Investigators, H. I., OCAC Consortium, O. C. & CIMBA Consortium, C. C., 2022, In: European journal of human genetics : EJHG. 30, 3, p. 349-362 14 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  32. Published

    Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort

    Foss-Skiftesvik, J., Stoltze, U. K., Hansen, Thomas van Overeem, Ahlborn, L. B., Sørensen, E., Ostrowski, Sisse Rye, Kullegaard, S. M. A., Laspiur, A. O., Melchior, L. C., Scheie, David, Kristensen, Bjarne Winther, Skjøth, Jane, Schmiegelow, Kjeld, Wadt, Karin Anna Wallentin & Mathiasen, René, 2022, In: Acta Neuropathologica Communications. 10, 123.

    Research output: Contribution to journal › Journal article › Research › peer-review

  33. Published

    Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

    ENIGMA Consortium, E. C. & CIMBA Consortium, C. C., 2022, In: Genetics in Medicine. 24, 1, p. 119-129 11 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  34. 2021
  35. Published

    Genomforskningsprojekt påviser TP53-mutation hos en pige med rabdomyosarkom

    Behrendt-Møller, I., Stoltze, U., Hjalgrim, L. L., Hansen, Thomas van Overeem, Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 9 Aug 2021, In: Ugeskrift for Laeger. 183, 32, 4 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  36. No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2: A prospective lynch syndrome database study

    Dominguez-Valentin, M., Plazzer, J. P., Sampson, J. R., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Macrae, F., Winship, I. M., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Nielsen, M., Bertario, L. & 69 others, Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Alvarez, K., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C. A., Nakken, S., Hovig, E., Green, K., Lalloo, F., Hill, J., Vasen, H. F. A., Perne, C., Büttner, R., Görgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Hüneburg, R., Doeberitz, M. V. K., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., Schmiegel, W., Vangala, D., Crosbie, E. J., Pineda, M., Navarro, M., Brunet, J., Moreira, L., Sánchez, A., Serra-Burriel, M., Mints, M., Kariv, R., Rosner, G., Piñero, T. A., Pavicic, W. H., Kalfayan, P., Ten Broeke, S. W., Mecklin, J. P., Pylvänäinen, K., Renkonen-Sinisalo, L., Lepistö, A., Peltomäki, P., Hopper, J. L., Win, A. K., Buchanan, D. D., Lindor, N. M., Gallinger, S., Marchand, L. L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Hansen, Thomas van Overeem, Lindberg, L., Rødland, E. A., Neffa, F., Esperon, P., Tjandra, D., Möslein, G., Seppälä, T. T. & Møller, P., 2021, In: Journal of Clinical Medicine. 10, 13, 12 p., 2856.

    Research output: Contribution to journal › Journal article › Research › peer-review

  37. Published

    Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

    Jelsig, A. M., Byrjalsen, A., Madsen, M. B., Kuhlmann, Tine Plato, Hansen, Thomas van Overeem, Wadt, Karin Anna Wallentin & Karstensen, John Gásdal, 2021, In: Application of Clinical Genetics. 14, p. 455-466 12 p.

    Research output: Contribution to journal › Review › Research › peer-review

  38. Published

    Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

    Byrjalsen, A., Diets, I. J., Bakhuizen, J., Hansen, Thomas van Overeem, Schmiegelow, Kjeld, Gerdes, Anne-Marie Axø, Stoltze, U., Kuiper, R. P., Merks, J. H. M., Wadt, Karin Anna Wallentin & Jongmans, M., 2021, In: Familial Cancer. 20, 4, p. 279-287 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  39. 2018
  40. Published

    MicroRNA dysregulation in adenoid cystic carcinoma of the salivary gland in relation to prognosis and gene fusion status: a cohort study

    Andreasen, S., Tan, Q., Agander, T. K., Hansen, Thomas van Overeem, Steiner, P., Bjørndal, K., Høgdall, Estrid Vilma Solyom, Larsen, S. R., Erentaite, D., Olsen, C. H., Ulhøi, B. P., Heegaard, Steffen, Wessel, Irene & Homøe, Preben, Sep 2018, In: Virchows Archiv. 473, 3, p. 329-340

    Research output: Contribution to journal › Journal article › Research › peer-review

  41. 2016
  42. Published

    Validation study of HPV DNA detection from stained FNA smears by polymerase chain reaction: Improving the diagnostic workup of patients with a tumor on the neck

    Channir, H. I., Grønhøj, Christian, Ahlborn, L. B., Hansen, Thomas van Overeem, Gerds, Thomas Alexander, Charabi, Birgitte Wittenborg, Vainer, B., von Buchwald, Christian, Lajer, C. B. & Kiss, K., Nov 2016, In: Cancer Cytopathology. 124, 11, p. 820-827 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  43. 2014
  44. Published

    IMP3 RNP safe houses prevent miRNA-directed HMGA2 mRNA decay in cancer and development

    Jønson, L., Christiansen, Jan, Hansen, Thomas van Overeem, Vikeså, J., Yamamoto, Y. & Nielsen, Finn Cilius, 2014, In: Cell Reports. 7, 2, p. 539-551 13 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  45. Published

    The genetic prehistory of the New World Arctic

    Raghavan, M., DeGiorgio, M., Albrechtsen, A., Moltke, I., Skoglund, P., Korneliussen, T. S., Grønnow, B., Appelt, M., Gulløv, H. C., Friesen, T. M., Fitzhugh, W., Malmström, H. S., Rasmussen, S., Olsen, J., Melchior, L. C., Fuller, B. T., Fahrni, S. M., Stafford jr., T., Grimes, V., Renouf, M. A. P. & 36 others, Cybulski, J., Lynnerup, Niels, Lahr, M. M., Britton, K., Knecht, R., Arneborg, J., Metspalu, M., Cornejo, O. E., Malaspinas, A. S., Wang, Y., Rasmussen, M., Raghavan, V., Hansen, Thomas van Overeem, Khusnutdinova, E., Pierre, T. L., Dneprovsky, K., Andreasen, C., Lange, H., Hayes, M. G., Coltrain, J., Spitsyn, V. A., Götherström, A., Orlando, L. A. A., Kivisild, T., Villems, R., Crawford, M. H., Nielsen, Finn Cilius, Dissing, J., Heinemeier, J., Meldgaard, Morten, Bustamante, C., O'Rourke, D. H., Jakobsson, M., Gilbert, M Thomas P, Nielsen, R. & Willerslev, Eske, 2014, In: Science. 345, 6200, 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  46. 2013
  47. Published

    Von Hippel-Lindau disease (vHL)

    Binderup, M. L. M., Bisgaard, S. M. L., Harbud, V., Møller, H. U., Gimsing, S., Friis-Hansen, Lennart Jan, Hansen, Thomas van Overeem, Bagi, P., Knigge, Ulrich, Kosteljanetz, M., Bøgeskov, L., Thomsen, C., Gerdes, Anne-Marie Axø, Ousager, L. B. & Sunde, L., Dec 2013, In: Danish Medical Journal. 60, 12, p. B4763

    Research output: Contribution to journal › Journal article › Research › peer-review

  48. Published

    Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling

    Larsen, M. J., Kruse, T. A., Tan, Q., Lænkholm, Anne-Vibeke, Bak, M., Lykkesfeldt, A. E., Sørensen, K. P., Hansen, Thomas van Overeem, Ejlertsen, Bent Laursen, Gerdes, Anne-Marie Axø & Thomassen, M., 2013, In: P L o S One. 8, 5, 12 p., e64268.

    Research output: Contribution to journal › Journal article › Research › peer-review

  49. Published

    Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

    Petersen, S. M., Dandanell, M., Rasmussen, Lene Juel, Gerdes, Anne-Marie Axø, Krogh, L. N., Bernstein, I., Okkels, H., Wikman, F., Nielsen, Finn Cilius & Hansen, Thomas van Overeem, 2013, In: BMC Medical Genetics. 14, p. 103

    Research output: Contribution to journal › Journal article › Research › peer-review

  50. Published

    Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31

    Permuth-Wey, J., Lawrenson, K., Shen, H. C., Velkova, A., Tyrer, J. P., Chen, Z., Lin, H-Y., Chen, Y. A., Tsai, Y-Y., Qu, X., Ramus, S. J., Karevan, R., Lee, J., Lee, N., Larson, M. C., Aben, K. K., Anton-Culver, H., Antonenkova, N., Antoniou, A. C., Armasu, S. M. & 160 others, Bacot, F., Baglietto, L., Bandera, E. V., Barnholtz-Sloan, J., Beckmann, M. W., Birrer, M. J., Bloom, G., Bogdanova, N., Brinton, L. A., Brooks-Wilson, A., Brown, R. J. (., Butzow, R., Cai, Q., Campbell, I., Chang-Claude, J., Chanock, S., Chenevix-Trench, G., Cheng, J. Q., Cicek, M. S., Coetzee, G. A., Cook, L. S., Couch, F. J., Cramer, D. W., Cunningham, J. M., Dansonka-Mieszkowska, A., Despierre, E., Doherty, J. A., Dörk, T., du Bois, A., Dürst, M., Easton, D. F., Eccles, D., Edwards, R., Ekici, A. B., Fasching, P. A., Fenstermacher, D. A., Flanagan, J. M., Garcia-Closas, M., Gentry-Maharaj, A., Giles, G. G., Glasspool, R. M., Gonzalez-Bosquet, J., Goodman, M. T., Gore, M., Górski, B., Gronwald, J., Hall, P., Halle, M. K., Harter, P., Heitz, F., Hillemanns, P., Hoatlin, M., Høgdall, Claus Kim, Høgdall, Estrid Vilma Solyom, Hosono, S., Jakubowska, A., Jensen, A., Jim, H., Kalli, K. R., Karlan, B. Y., Kaye, S. B., Kelemen, L. E., Kiemeney, L. A., Kikkawa, F., Konecny, G. E., Krakstad, C., Kjær, Susanne Krüger, Kupryjanczyk, J., Lambrechts, D., Lambrechts, S., Lancaster, J. M., Le, N. D., Leminen, A., Levine, D. A., Liang, D., Lim, B. K., Lin, J., Lissowska, J., Lu, K. H., Lubi?ski, J., Lurie, G., Massuger, L. F. A. G., Matsuo, K., McGuire, V., McLaughlin, J. R., Menon, U., Modugno, F., Moysich, K. B., Nakanishi, T., Narod, S. A., Nedergaard, L., Ness, R. B., Nevanlinna, H., Nickels, S., Noushmehr, H., Odunsi, K., Olson, S. H., Orlow, I., Paul, J., Pearce, C. L., Pejovic, T., Pelttari, L. M., Pike, M. C., Poole, E. M., Raska, P., Renner, S. P., Risch, H. A., Rodriguez-Rodriguez, L., Rossing, M. A., Rudolph, A., Runnebaum, I. B., Rzepecka, I. K., Salvesen, H. B., Schwaab, I., Severi, G., Shridhar, V., Shu, X., Shvetsov, Y. B., Sieh, W., Song, H., Southey, M. C., Spiewankiewicz, B., Stram, D., Sutphen, R., Teo, S., Terry, K. L., Tessier, D. C., Thompson, P. J., Tworoger, S. S., van Altena, A. M., Vergote, I., Vierkant, R. A., Vincent, D., Vitonis, A. F., Wang-Gohrke, S., Palmieri Weber, R., Wentzensen, N., Whittemore, A. S., Wik, E., Wilkens, L. R., Winterhoff, B., Woo, Y. L., Wu, A. H., Xiang, Y., Yang, H. P., Zheng, W., Ziogas, A., Zulkifli, F., Phelan, C. M., Iversen, E., Schildkraut, J. M., Berchuck, A., Fridley, B. L., Goode, E. L., Pharoah, P. D. P., Monteiro, A. N. A., Sellers, T. A., Gayther, S. A., Study, A. C. & Hansen, Thomas van Overeem, 2013, In: Nature Communications. 4, p. 1-12 1627.

    Research output: Contribution to journal › Journal article › Research › peer-review

  51. 2012
  52. Published

    Functional characterization of MLH1 missense variants identified in Lynch Syndrome patients

    Andersen, S. D., Liberti, S. E., Lützen, A., Drost, M., Bernstein, I., Nilbert, Mef Christina, Dominguez, M., Nyström, M., Hansen, Thomas van Overeem, Christoffersen, J. W., Jäger, A. C., de Wind, N., Nielsen, Finn Cilius, Tørring, P. M. & Rasmussen, Lene Juel, Dec 2012, In: Human Mutation. 33, 12, p. 1647-1655 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  53. 2011
  54. Published

    A method for detecting IBD regions simultaneously in multiple individuals--with applications to disease genetics

    Moltke, Ida, Albrechtsen, Anders, Hansen, Thomas van Overeem, Nielsen, Finn Cilius & Nielsen, Rasmus, 2011, In: Genome Research. 21, 7, p. 1168-80 13 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  55. Published

    Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

    Ramus, S. J., Kartsonaki, C., Gayther, S. A., Pharoah, P. D. P., Sinilnikova, O. M., Beesley, J., Chen, X., McGuffog, L., Healey, S., Couch, F. J., Wang, X., Fredericksen, Z., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Roversi, G., Barile, M., Viel, A., Allavena, A. & 31 others, Ottini, L., Papi, L., Gismondi, V., Capra, F., Radice, P., Greene, M. H., Mai, P. L., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Gerdes, Anne-Marie Axø, Kruse, T. A., Cruger, D., Jensen, U. B., Caligo, M. A., Olsson, H., Kristoffersson, U., Lindblom, A., Arver, B., Karlsson, P. W., Stenmark Askmalm, M., Borg, A., Neuhausen, S. L., Ding, Y. C., Nathanson, K. L., Domchek, S. M., Hansen, Thomas van Overeem, Jønson, L., Ejlertsen, Bent Laursen & OCGN, O., 2011, In: National Cancer Institute. Journal (Print). 103, 2, p. 105-16 12 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  56. 2010
  57. Published

    A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

    Antoniou, A. C., Wang, X., Fredericksen, Z. S., McGuffog, L., Tarrell, R., Sinilnikova, O. M., Healey, S., Morrison, J., Kartsonaki, C., Lesnick, T., Ghoussaini, M., Barrowdale, D., Peock, S., Cook, M., Oliver, C., Frost, D., Eccles, D., Evans, D. G., Eeles, R., Izatt, L. & 31 others, Chu, C., Douglas, F., Paterson, J., Stoppa-Lyonnet, D., Houdayer, C., Mazoyer, S., Giraud, S., Lasset, C., Remenieras, A., Caron, O., Hardouin, A., Berthet, P., Hogervorst, F. B. L., Rookus, M. A., Jager, A., van den Ouweland, A., Hoogerbrugge, N., van der Luijt, R. B., Meijers-Heijboer, H., Gómez García, E. B., Devilee, P., Vreeswijk, M. P. G., Lubinski, J., Jakubowska, A., Gronwald, J., Huzarski, T., Byrski, T., Gerdes, Anne-Marie Axø, Hansen, Thomas van Overeem, Nielsen, Finn Cilius & EMBRACE, E., 1 Oct 2010, In: Nature Genetics. 42, 10, p. 885-92 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  58. Published

    Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

    Gaudet, M. M., Kirchhoff, T., Green, T., Vijai, J., Korn, J. M., Guiducci, C., Segrè, A. V., McGee, K., McGuffog, L., Kartsonaki, C., Morrison, J., Healey, S., Sinilnikova, O. M., Stoppa-Lyonnet, D., Mazoyer, S., Gauthier-Villars, M., Sobol, H., Longy, M., Frenay, M., GEMO Study Collaborators & 31 others, Hogervorst, F. B. L., Rookus, M. A., Collée, J. M., Hoogerbrugge, N., van Roozendaal, K. E. P., Piedmonte, M., Rubinstein, W., Nerenstone, S., Van Le, L., Blank, S. V., Caldés, T., de la Hoya, M., Nevanlinna, H., Aittomäki, K., Lazaro, C., Blanco, I., Arason, A., Johannsson, O. T., Barkardottir, R. B., Devilee, P., Olopade, O. I., Neuhausen, S. L., Wang, X., Fredericksen, Z. S., Peterlongo, P., Manoukian, S., Barile, M., Viel, A., Hansen, Thomas van Overeem, Nielsen, Finn Cilius & HEBON Study Collaborators, H. S. C., 1 Oct 2010, In: P L o S Genetics. 6, 10, p. e1001183

    Research output: Contribution to journal › Journal article › Research › peer-review

  59. Published

    Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

    Steffensen, A. Y., Jønson, L., Ejlertsen, B., Gerdes, Anne-Marie Axø, Nielsen, Finn Cilius & Hansen, Thomas van Overeem, 1 Sep 2010, In: Familial Cancer. 9, 3, p. 283-7 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  60. Published

    Ancient human genome sequence of an extinct Palaeo-Eskimo

    Rasmussen, M., Li, Y., Lindgreen, S., Pedersen, J. S., Albrechtsen, A., Moltke, I., Metspalu, M., Metspalu, E., Kivisild, T., Gupta, R., Bertalan, M., Nielsen, K., Gilbert, T., Wang, Y., Raghavan, M., Campos, P., Kamp, H. L. M., Wilson, A. S., Gledhill, A., Tridico, S. & 32 others, Bunce, M., Lorenzen, Eline, Binladen, J. K. M. A., Guo, X., Zhao, J., Zhang, X., Zhang, H., Li, Z., Chen, M., Orlando, L. A. A., Kristiansen, Karsten, Bak, M., Tommerup, Niels, Bendixen, C., Pierre, T. L., Grønnow, B., Meldgaard, Morten, Andreasen, C., Fedorova, S. A., Osipova, L. P., Higham, T. F. G., Ramsey, C. B., Hansen, Thomas van Overeem, Nielsen, Finn Cilius, Crawford, M. H., Brunak, Søren, Sicheritz-Pontén, T., Villems, R., Nielsen, Rasmus, Krogh, Anders, Wang, J. & Willerslev, Eske, 11 Feb 2010, In: Nature. 463, 7282, p. 757-762 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  61. Published

    Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer

    Hansen, Thomas van Overeem, Jønson, L., Albrechtsen, Anders, Steffensen, A. Y., Bergsten, E. B., Myrhøj, T., Ejlertsen, Bent Laursen & Nielsen, Finn Cilius, 2010, In: Breast Cancer Research and Treatment. 124, 1, p. 259-264 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  62. 2009
  63. Published

    Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families

    Hansen, Thomas van Overeem, Jønson, L., Albrechtsen, Anders, Andersen, M. K., Ejlertsen, Bent Laursen & Nielsen, Finn Cilius, May 2009, In: Breast Cancer Research and Treatment. 115, 2, p. 315-323 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  64. 2007
  65. Published

    Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 (CARD 15) gene are not found in ethnic Danes with sarcoidosis

    Milman, N., Nielsen, Finn Cilius, Hviid, Thomas Vauvert F. & Hansen, Thomas van Overeem, Dec 2007, In: Clinical Respiratory Journal. 1, 2, p. 74-9 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  66. 2006
  67. Published

    Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation

    Milman, N., Andersen, C. B., Hansen, A., Hansen, Thomas van Overeem, Nielsen, Finn Cilius, Fledelius, H., Ahrens, P. & Nielsen, Ole Haagen, Dec 2006, In: APMIS : acta pathologica, microbiologica, et immunologica Scandinavica. 114, 12, p. 912-9 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  68. Published

    Characteristics of the Danish families with multiple endocrine neoplasia type 1

    Jäger, A. C., Friis-Hansen, Lennart Jan, Hansen, Thomas van Overeem, Eskildsen, P. C., Sølling, K., Knigge, Ulrich, Hansen, C. P., Andersen, P. H., Brixen, K., Feldt-Rasmussen, Ulla, Kroustrup, J. P., Mollerup, C. L., Rehfeld, Jens Frederik, Blichert-Toft, M. & Nielsen, Finn Cilius, 25 Apr 2006, In: Molecular and Cellular Endocrinology. 249, 1-2, p. 123-132 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  69. 2005
  70. Published

    Expression of IGF-II mRNA-binding proteins (IMPs) in gonads and testicular cancer

    Hammer, N. A., Hansen, Thomas van Overeem, Byskov, A. G., Rajpert-De Meyts, E., Grøndahl, M. L., Bredkjaer, H. E., Wewer, Ulla M., Christiansen, Jan & Nielsen, Finn Cilius, 2005, In: Reproduction. 130, 2, p. 203-12 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  71. 2004
  72. Published

    Dwarfism and impaired gut development in insulin-like growth factor II mRNA-binding protein 1-deficient mice

    Hansen, Thomas van Overeem, Hammer, N. A., Nielsen, J., Madsen, Mette, Dalbaeck, C., Wewer, Ulla M., Christiansen, Jan & Nielsen, Finn Cilius, 2004, In: Molecular and Cellular Biology. 24, 10, p. 4448-64 17 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  73. 1995
  74. Published

    A distal Sp 1-element is necessary for maximal activity of the human gastrin gene promoter

    R. Bundgaard, J., Hansen, Thomas van Overeem, Friis-Hansen, Lennart Jan, Rourke, I. J., van Solinge, W. W., Nielsen, Finn Cilius & Rehfeld, Jens Frederik, 7 Aug 1995, In: FEBS Letters. 369, 2-3, p. 225-228 4 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

ID: 33972371