Department of Clinical Genetics

Research output

Research output per year 2007 2013 2019 2020 2021 2022 2023 2024 2025

• 110 Journal article
• 29 Conference abstract in journal
• 11 Poster
• 10 Review article
• 14 More
  • 5 Comment/debate
  • 4 Conference abstract for conference
  • 2 Book chapter
  • 1 Conference abstract in proceeding
  • 1 Letter
  • 1 PhD thesis

Research output per year

Research output per year

Search results

• 2022

  Erratum: Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants (Genetics in Medicine (2022) 24(1) (119–129), (S1098360021011308), (10.1016/j.gim.2021.08.016))

  Li, H., Engel, C., de la Hoya, M., Peterlongo, P., Yannoukakos, D., Livraghi, L., Radice, P., Thomassen, M., Hansen, T. V. O., Gerdes, A.-M., Nielsen, H. R., Caputo, S. M., Zambelli, A., Borg, A., Solano, A., Thomas, A., Parsons, M. T., Antoniou, A. C., Leslie, G. & Yang, X. & 42 others, Chenevix-Trench, G., Caldes, T., Kwong, A., Pedersen, I. S., Lautrup, C. K., John, E. M., Terry, M. B., Hopper, J. L., Southey, M. C., Andrulis, I. L., Tischkowitz, M., Janavicius, R., Boonen, S. E., Kroeldrup, L., Varesco, L., Hamann, U., Vega, A., Palmero, E. I., Garber, J., Montagna, M., Van Asperen, C. J., Foretova, L., Greene, M. H., Selkirk, T., Moller, P., Toland, A. E., Domchek, S. M., James, P. A., Thorne, H., Eccles, D. M., Nielsen, S. M., Manoukian, S., Pasini, B., Caligo, M. A., Lazaro, C., Kirk, J., Wappenschmidt, B., Spurdle, A. B., Couch, F. J., Schmutzler, R., Goldgar, D. E. & ENIGMA consortium, Oct 2022, In: Genetics in Medicine. 24, 10, p. 2208 1 p.

  Research output: Contribution to journal › Comment/debate › Communication

  Open Access

  • Genetic Divergence 100%
  • Missense 100%
  • BRCA1 100%
  • BRCA2 100%
  • Genetics 50%
  1 Citation (Scopus)
• 2021

  Correction to: Letter to the Editor—Recent advances in Lynch syndrome (Familial Cancer, (2021), 20, 2, (117-118), 10.1007/s10689-020-00200-6)

  Møller, P., Sampson, J., Dominguez-Valentin, M., Burn, J., Sunde, L., Möslein, G., Mecklin, J. P. & Seppälä, T., Apr 2021, In: Familial Cancer. 20, 2, p. 119 1 p.

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

  Open Access

  • Letter to the 100%
  • Lynch Syndrome 100%
  • Familial Cancer 100%
  • Hereditary Tumor Syndrome 100%
  • Hereditary Nonpolyposis Colorectal Cancer 100%

• Letter to the Editor—Recent advances in Lynch syndrome

  Møller, P., Sampson, J., Dominguez-Valentin, M., Burn, J., Sunde, L., Möslein, G., Mecklin, J.-P. & Seppälä, T., Apr 2021, In: Familial Cancer. 20, 2, p. 117–118 2 p.

  Research output: Contribution to journal › Comment/debate › Research › peer-review
• 2016

  A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis

  Lolas, I. B., Sommerlund, M., Okkels, H., Ramsing, M. & Petersen, M. B., 2016, In: European Academy of Dermatology and Venereology. Journal. 30, 11, p. e144-e145 2 p.

  Research output: Contribution to journal › Comment/debate › Research › peer-review
  3 Citations (Scopus)
• 2014

  New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

  Pohler, E., Huber, M., Boonen, S. E., Zamiri, M., Gregersen, P. A., Sommerlund, M., Ramsing, M., Hohl, D., McLean, W. H. I. & Smith, F. J. D., Aug 2014, In: British Journal of Dermatology. 171, 2, p. 433-436 4 p.

  Research output: Contribution to journal › Comment/debate › Research › peer-review
  10 Citations (Scopus)