Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital

Human Genetics, 0340-6717

Journal

  1. 2020
  2. Published

    Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Krab, L. C., Marcos-Alcalde, I., Assaf, M., Balasubramanian, M., Andersen, J. B., Bisgaard, A-M., Fitzpatrick, D. R., Gudmundsson, S., Huisman, S. A., Kalayci, T., Maas, S. M., Martinez, F., McKee, S., Menke, L. A., Mulder, P. A., Murch, O. D., Parker, M., Pie, J., Ramos, F. J., Rieubland, C., Rosenfeld Mokry, J. A., Scarano, E., Shinawi, M., Gómez-Puertas, P., Hennekam, R. C. & Tümer, Z., May 2020, In : Human Genetics. 139, 5, p. 575-592 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. E-pub ahead of print

    A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness

    Nudel, R., Appadurai, V., Schork, A. J., Buil, A., Bybjerg-Grauholm, J., Børglum, A. D., Daly, M. J., Mors, O., Hougaard, D. M., Mortensen, P. B., Werge, T., Nordentoft, M., Thompson, W. K. & Benros, M. E., 9 Mar 2020, In : Human Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. E-pub ahead of print

    Evaluating genetic causes of azoospermia: What can we learn from a complex cellular structure and single-cell transcriptomics of the human testis?

    Soraggi, S., Riera, M., Rajpert-De Meyts, E., Schierup, M. H. & Almstrup, K., 16 Jan 2020, In : Human Genetics.

    Research output: Contribution to journalReviewResearchpeer-review

  5. Published

    Variant in ERAP1 promoter region is associated with low expression in a patient with a Behçet-like MHC-I-opathy

    Dimopoulou, C., Lundgren, J. D., Sundal, J., Ullum, H., Aukrust, P., Nielsen, F. C. & Marvig, R. L., 2020, In : Human Genetics. 65, p. 325-335

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2018
  7. Published

    The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

    Tranebjærg, L., Strenzke, N., Lindholm, S., Rendtorff, N. D., Poulsen, H., Khandelia, H., Kopec, W., Lyngbye, T. J. B., Hamel, C., Delettre, C., Bocquet, B., Bille, M., Owen, H. H., Bek, T., Jensen, H., Østergaard, K., Möller, C., Luxon, L., Carr, L., Wilson, L., Rajput, K., Sirimanna, T., Harrop-Griffiths, K., Rahman, S., Vona, B., Doll, J., Haaf, T., Bartsch, O., Rosewich, H., Moser, T. & Bitner-Glindzicz, M., Feb 2018, In : Human Genetics. 137, 2, p. 111-127 17 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 2017
  9. Published

    Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation

    Rossing, M., Albrechtsen, A., Skytte, A-B., Jensen, U. B., Ousager, L. B., Gerdes, A-M., Nielsen, F. C. & Hansen, T. VO., 13 Oct 2017, In : Human Genetics. 62, 2, p. 151–157

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 2016
  11. Published

    Assessing the genetic architecture of epithelial ovarian cancer histological subtypes

    Cuellar-Partida, G., Lu, Y., Dixon, S. C., Fasching, P. A., Hein, A., Burghaus, S., Beckmann, M. W., Lambrechts, D., Van Nieuwenhuysen, E., Vergote, I., Vanderstichele, A., Doherty, J. A., Rossing, M. A., Chang-Claude, J., Rudolph, A., Wang-Gohrke, S., Goodman, M. T., Bogdanova, N., Dörk, T., Dürst, M., Hillemanns, P., Runnebaum, I. B., Antonenkova, N., Butzow, R., Leminen, A., Nevanlinna, H., Pelttari, L. M., Edwards, R. P., Kelley, J. L., Modugno, F., Moysich, K. B., Ness, R. B., Cannioto, R., Høgdall, E. V. S., Høgdall, C., Jensen, A., Giles, G. G., Bruinsma, F., Kjaer, S. K., Hildebrandt, M. A. T., Liang, D., Lu, K. H., Wu, X., Bisogna, M., Dao, F., Levine, D. A., Cramer, D. W., Terry, K. L., Tworoger, S. S., Stampfer, M. & Australian Ovarian Cancer Study, Jul 2016, In : Human Genetics. 135, 7, p. 741-56 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Phenotypic subregions within the split-hand/foot malformation 1 locus

    Rasmussen, M. B., Kreiborg, S., Jensen, P., Bak, M., Mang, Y., Lodahl, M., Budtz-Jørgensen, E., Tommerup, N., Tranebjærg, L. & Rendtorff, N. D., Mar 2016, In : Human Genetics. 135, 3, p. 345-57 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

    Lei, J., Rudolph, A., Moysich, K. B., Behrens, S., Goode, E. L., Bolla, M. K., Dennis, J., Dunning, A. M., Easton, D. F., Wang, Q., Benitez, J., Hopper, J. L., Southey, M. C., Schmidt, M. K., Broeks, A., Fasching, P. A., Haeberle, L., Peto, J., Dos-Santos-Silva, I., Sawyer, E. J., Tomlinson, I., Burwinkel, B., Marmé, F., Guénel, P., Truong, T., Bojesen, S. E., Flyger, H., Nielsen, S. F., Nordestgaard, B. G., González-Neira, A., Menéndez, P., Anton-Culver, H., Neuhausen, S. L., Brenner, H., Arndt, V., Meindl, A., Schmutzler, R. K., Brauch, H., Hamann, U., Nevanlinna, H., Fagerholm, R., Dörk, T., Bogdanova, N. V., Mannermaa, A., Hartikainen, J. M., Van Dijck, L., Smeets, A., Flesch-Janys, D., Eilber, U., Radice, P. & Australian Ovarian Study Group, Jan 2016, In : Human Genetics. 135, 1, p. 137-54 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 2014
  15. Published

    Validated context-dependent associations of coronary heart disease risk with genotype variation in the chromosome 9p21 region: the Atherosclerosis Risk in Communities study

    Lusk, C. M., Dyson, G., Clark, A., Ballantyne, C. M., Frikke-Schmidt, R., Tybjærg-Hansen, A., Boerwinkle, E. & Sing, C. F., Sep 2014, In : Human Genetics. 133, 9, p. 1105-16 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA

    Earp, M. A., Kelemen, L. E., Magliocco, A. M., Swenerton, K. D., Chenevix-Trench, G., Lu, Y., Hein, A., Ekici, A. B., Beckmann, M. W., Fasching, P. A., Lambrechts, D., Despierre, E., Vergote, I., Lambrechts, S., Doherty, J. A., Rossing, M. A., Chang-Claude, J., Rudolph, A., Friel, G., Moysich, K. B., Odunsi, K., Sucheston-Campbell, L., Lurie, G., Goodman, M. T., Carney, M. E., Thompson, P. J., Runnebaum, I. B., Dürst, M., Hillemanns, P., Dörk, T., Antonenkova, N., Bogdanova, N., Leminen, A., Nevanlinna, H., Pelttari, L. M., Butzow, R., Bunker, C. H., Modugno, F., Edwards, R. P., Ness, R. B., du Bois, A., Heitz, F., Schwaab, I., Harter, P., Karlan, B. Y., Jensen, A., Kjær, S. K., Høgdall, C. K., Høgdall, E., Lundvall, L. & Australian Cancer Study, May 2014, In : Human Genetics. 133, 5, p. 481-97 17 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

    Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, E. M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N. M., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjærgaard, S., Tümer, Z. & Kleefstra, T., 2014, In : Human Genetics. 133, 5, p. 625-638

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 2012
  19. Published

    Insight in glioma susceptibility through an analysis of 6p22.3, 12p13.33-12.1, 17q22-23.2 and 18q23 SNP genotypes in familial and non-familial glioma

    Gliogene Consortium, Sep 2012, In : Human Genetics. 131, 9, p. 1507-17 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. 2011
  21. Published

    Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

    Im, K. M., Kirchhoff, T., Wang, X., Green, T., Chow, C. Y., Vijai, J., Korn, J., Gaudet, M. M., Fredericksen, Z., Shane Pankratz, V., Guiducci, C., Crenshaw, A., McGuffog, L., Kartsonaki, C., Morrison, J., Healey, S., Sinilnikova, O. M., Mai, P. L., Greene, M. H., Piedmonte, M., Rubinstein, W. S., Hogervorst, F. B., Rookus, M. A., Collée, J. M., Hoogerbrugge, N., van Asperen, C. J., Meijers-Heijboer, H. E. J., Van Roozendaal, C. E., Caldes, T., Perez-Segura, P., Jakubowska, A., Lubinski, J., Huzarski, T., Blecharz, P., Nevanlinna, H., Aittomäki, K., Lazaro, C., Blanco, I., Barkardottir, R. B., Montagna, M., D'Andrea, E., Devilee, P., Olopade, O. I., Neuhausen, S. L., Peissel, B., Bonanni, B., Peterlongo, P., Singer, C. F., Rennert, G., Hansen, T. V. O. & HEBON, 2011, In : Human Genetics. 130, 5, p. 685-99 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. 2007
  23. Published

    Quantitative linkage genome scan for atopy in a large collection of Caucasian families.

    Webb, BT., van den Oord, E., Akkari, A., Wilton, S., Ly, T., Duff, R., Barnes, KC., Carlsen, K., Gerritsen, J., Lenney, W., Silverman, M., Sly, P., Sundy, J., Tsanakas, J., von Berg, A., Whyte, M., Blumenthal, M., Vestbo, J., Middleton, L., Helms, PJ., Anderson, WH. & Pillai, SG., 2007, In : Hum Genet. 121, 1, p. 83-92

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. 2004
  25. Published
  26. Published

    The origin of the isolated population of the Faroe Islands investigated using Y chromosomal markers

    Jorgensen, T. H., Buttenschön, H. N., Wang, A. G., Als, T. D., Børglum, A. D. & Ewald, H., 2004, In : Human Genetics. 115, 1, p. 19-28 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. 1983
  28. Published

    Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother

    Tabor, A., Andersen, O., Lundsteen, C., Niebuhr, E. & Sardemann, H., 1983, In : Human Genetics. 64, 2, p. 196-9 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 11032