Thomas van Overeem Hansen
Clinical Professor
- 2024
- E-pub ahead of print
Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort
Hammer-Hansen, S., Stoltze, U., Bartels, Emil Daniel, Hansen, Thomas van Overeem, Byrjalsen, A., Tybjærg-Hansen, Anne, Juul, K., Schmiegelow, Kjeld, Tfelt-Hansen, Jacob, Bundgård, Henning, Wadt, Karin Anna Wallentin & Diness, Birgitte Rode, 2024, (E-pub ahead of print) In: European Journal of Human Genetics. 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- 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, , 2024, In: Breast Cancer Research. 26, 1, 14 p., 6.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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, , 2024, (Accepted/In press) In: Human Genetics.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- 2023
- 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
- 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
- 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, , 2023, In: Clinical Cancer Research. 29, 16, p. 3037-3050 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 761-773Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 842-849Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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, , 2023, In: Journal of Medical Genetics. 60, 4, p. 317-326 10 p.Research output: Contribution to journal › Review › Research › peer-review
- 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
- 2022
- 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
- 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
- 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. 1925–1933Research output: Contribution to journal › Journal article › Research › peer-review
ID: 33972371
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IMP3 RNP safe houses prevent miRNA-directed HMGA2 mRNA decay in cancer and development
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
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Ancient human genome sequence of an extinct Palaeo-Eskimo
Research output: Contribution to journal › Journal article › Research › peer-review
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Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants
Research output: Contribution to journal › Journal article › Research › peer-review
Published