Thomas van Overeem Hansen

Thomas van Overeem Hansen

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 10 out of 48Page size: 10
  1. 2023
  2. E-pub ahead of print

    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, 19 Jun 2023, (E-pub ahead of print) In: Journal of Human Genetics. 4 p.

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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

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