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Center for Genomic Medicine - a part of Copenhagen University Hospital
  1. 2020
  2. E-pub ahead of print

    Rare genetic variants suggest dysregulation of signaling pathways in low- and high-risk patients developing severe ovarian hyperstimulation syndrome

    Borgwardt, L., Olsen, K. W., Rossing, M., Helweg-Larsen, R. B., Toftager, M., Pinborg, A., Bogstad, J., Løssl, K., Zedeler, A. & Grøndahl, M. L., 18 Sep 2020, In : Journal of Assisted Reproduction and Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes

    Main, A. M., Rossing, M., Borgwardt, L., Grønkær Toft, B., Rasmussen, Å. K. & Feldt-Rasmussen, U., Aug 2020, In : Endocrine Connections. 9, 8, p. 793-803 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published
  5. Published

    Daily estimates of clinical severity of symptoms in bipolar disorder from smartphone-based self-assessments

    Busk, J., Faurholt-Jepsen, M., Frost, M., Bardram, J. E., Kessing, L. V. & Winther, O., 18 Jun 2020, In : Translational psychiatry. 10, 1, p. 194

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. E-pub ahead of print

    Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome

    Jelsig, A. M., Bertelsen, B., Forss, I. & Karstensen, J. G., 6 Jun 2020, In : Familial Cancer.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Hjortshøj, T. D., Sørensen, A. R., Yusibova, M., Hansen, B. M., Dunø, M., Balslev-Harder, M., Grønskov, K., van Hagen, J. M., Polstra, A. M., Eggermann, T., Finken, M. J. J. & Tümer, Z., Jun 2020, In : Clinical Genetics. 97, 6, p. 902-907 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Tumor miRNA expression profile is related to vestibular schwannoma growth rate

    Sass, H. C. R., Hansen, M., Borup, R., Nielsen, F. C. & Cayé-Thomasen, P., May 2020, In : Acta Neurochirurgica. 162, 5, p. 1187-1195 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published
  10. Published

    Forecasting Mood in Bipolar Disorder From Smartphone Self-assessments: Hierarchical Bayesian Approach

    Busk, J., Faurholt-Jepsen, M., Frost, M., Bardram, J. E., Vedel Kessing, L. & Winther, O., 1 Apr 2020, In : JMIR mHealth and uHealth. 8, 4, p. e15028

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    The Number of Signaling Pathways Altered by Driver Mutations in Chronic Lymphocytic Leukemia Impacts Disease Outcome

    Brieghel, C., da Cunha-Bang, C., Yde, C. W., Schmidt, A. Y., Kinalis, S., Nadeu, F., Andersen, M. A., Jacobsen, L. O., Andersen, M. K., Pedersen, L. B., Delgado, J., Baumann, T., Mattsson, M., Mansouri, L., Rosenquist, R., Campo, E., Nielsen, F. C. & Niemann, C. U., 15 Mar 2020, In : Clinical Cancer Research. 26, 6, p. 1507-1515 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

    Yang, X., Leslie, G., Doroszuk, A., Schneider, S., Allen, J., Decker, B., Dunning, A. M., Redman, J., Scarth, J., Plaskocinska, I., Luccarini, C., Shah, M., Pooley, K., Dorling, L., Lee, A., Adank, M. A., Adlard, J., Aittomäki, K., Andrulis, I. L., Ang, P., Barwell, J., Bernstein, J. L., Bobolis, K., Borg, Å., Blomqvist, C., Claes, K. B. M., Concannon, P., Cuggia, A., Culver, J. O., Damiola, F., de Pauw, A., Diez, O., Dolinsky, J. S., Domchek, S. M., Engel, C., Evans, D. G., Fostira, F., Garber, J., Golmard, L., Goode, E. L., Gruber, S. B., Hahnen, E., Hake, C., Heikkinen, T., Hurley, J. E., Janavicius, R., Kleibl, Z., Kleiblova, P., Konstantopoulou, I., Kvist, A., Laduca, H., Lee, A. S. G., Lesueur, F., Maher, E. R., Mannermaa, A., Manoukian, S., McFarland, R., McKinnon, W., Meindl, A., Metcalfe, K., Mohd Taib, N. A., Moilanen, J., Nathanson, K. L., Neuhausen, S., Ng, P. S., Nguyen-Dumont, T., Nielsen, S. M., Obermair, F., Offit, K., Olopade, O. I., Ottini, L., Penkert, J., Pylkäs, K., Radice, P., Ramus, S. J., Rudaitis, V., Side, L., Silva-Smith, R., Silvestri, V., Skytte, A-B., Slavin, T., Soukupova, J., Tondini, C., Trainer, A. H., Unzeitig, G., Usha, L., van Overeem Hansen, T., Whitworth, J., Wood, M., Yip, C. H., Yoon, S-Y., Yussuf, A., Zogopoulos, G., Goldgar, D., Hopper, J. L., Chenevix-Trench, G., Pharoah, P., George, S. H. L., Balmaña, J., Houdayer, C., James, P., El-Haffaf, Z., Ehrencrona, H., Janatova, M., Peterlongo, P., Nevanlinna, H., Schmutzler, R., Teo, S-H., Robson, M., Pal, T., Couch, F., Weitzel, J. N., Elliott, A., Southey, M., Winqvist, R., Easton, D. F., Foulkes, W. D., Antoniou, A. C. & Tischkowitz, M., 1 Mar 2020, In : Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 38, 7, p. 674-685 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Genetic relationship between bacteria isolated from intraoperative air samples and surgical site infections at a major teaching hospital in Ghana

    Stauning, M. A., Bediako-Bowan, A., Bjerrum, S., Andersen, L. P., Andreu-Sánchez, S., Labi, A-K., Kurtzhals, J. A. L., Marvig, R. L. & Opintan, J. A., Mar 2020, In : The Journal of hospital infection. 104, 3, p. 309-320 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Chromothripsis and DNA Repair Disorders

    Nazaryan-Petersen, L., Bjerregaard, V. A., Nielsen, F. C., Tommerup, N. & Tümer, Z., 25 Feb 2020, In : Journal of Clinical Medicine. 9, 3

    Research output: Contribution to journalReviewResearchpeer-review

  15. Published

    Correction: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

    Leman, R., Gaildrat, P., Le Gac, G., Ka, C., Fichou, Y., Audrezet, M-P., Caux-Moncoutier, V., Caputo, S. M., Boutry-Kryza, N., Léone, M., Mazoyer, S., Bonnet-Dorion, F., Sevenet, N., Guillaud-Bataille, M., Rouleau, E., Bressac-de Paillerets, B., Wappenschmidt, B., Rossing, M., Muller, D., Bourdon, V., Revillon, F., Parsons, M. T., Rousselin, A., Davy, G., Castelain, G., Castéra, L., Sokolowska, J., Coulet, F., Delnatte, C., Férec, C., Spurdle, A. B., Martins, A., Krieger, S. & Houdayer, C., 20 Feb 2020, 2 p.

    Research output: Other contributionResearch

  16. Published

    Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

    Patel, V. L., Busch, E. L., Friebel, T. M., Cronin, A., Leslie, G., McGuffog, L., Adlard, J., Agata, S., Agnarsson, B. A., Ahmed, M., Aittomäki, K., Alducci, E., Andrulis, I. L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barnes, D. R., Barroso, A., Barrowdale, D., Belotti, M., Benitez, J., Bertelsen, B., Blok, M. J., Bodrogi, I., Bonadona, V., Bonanni, B., Bondavalli, D., Boonen, S. E., Borde, J., Borg, A., Bradbury, A. R., Brady, A., Brewer, C., Brunet, J., Buecher, B., Buys, S. S., Cabezas-Camarero, S., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Campbell, I. G., Carnevali, I., Carrasco, E., Chan, T. L., Chu, A. T. W., Chung, W. K., Claes, K. B. M., Collaborators, G. S., Collaborators, E., Cook, J., Cortesi, L., Couch, F. J., Daly, M. B., Damante, G., Darder, E., Davidson, R., de la Hoya, M., Della Puppa, L., Dennis, J., Díez, O., Ding, Y. C., Ditsch, N., Domchek, S. M., Donaldson, A., Dworniczak, B., Easton, D. F., Eccles, D. M., Eeles, R. A., Ehrencrona, H., Ejlertsen, B., Engel, C., Evans, D. G., Faivre, L., Faust, U., Feliubadaló, L., Foretova, L., Fostira, F., Fountzilas, G., Frost, D., García-Barberán, V., Garre, P., Gauthier-Villars, M., Géczi, L., Gehrig, A., Gerdes, A-M., Gesta, P., Giannini, G., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gutierrez-Barrera, A. M., Hahnen, E., Hamann, U., Hauke, J., Herold, N., Hogervorst, F. B. L., Honisch, E., Hopper, J. L., Hulick, P. J., Investigators, KC., Investigators, H., Izatt, L., Jager, A., James, P., Janavicius, R., Jensen, U. B., Jensen, T. D., Johannsson, O. T., John, E. M., Joseph, V., Kang, E., Kast, K., Kiiski, J. I., Kim, S-W., Kim, Z., Ko, K-P., Konstantopoulou, I., Kramer, G., Krogh, L., Kruse, T. A., Kwong, A., Larsen, M., Lasset, C., Lautrup, C., Lázaro, C., Lee, J., Lee, J. W., Lee, M. H., Lemke, J., Lesueur, F., Liljegren, A., Lindblom, A., Llovet, P., Lopez-Fernández, A., Lopez-Perolio, I., Lorca, V., Loud, J. T., Ma, E. S. K., Mai, P. L., Manoukian, S., Mari, V., Martin, L., Matricardi, L., Mebirouk, N., Medici, V., Meijers-Heijboer, H. E. J., Meindl, A., Mensenkamp, A. R., Miller, C., Molina Gomes, D., Montagna, M., Mooij, T. M., Moserle, L., Mouret-Fourme, E., Mulligan, A. M., Nathanson, K. L., Navratilova, M., Nevanlinna, H., Niederacher, D., Cilius Nielsen, F. C., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Ong, K-R., Osorio, A., Ott, C-E., Palli, D., Park, S. K., Parsons, M. T., Pedersen, I. S., Peissel, B., Peixoto, A., Pérez-Segura, P., Peterlongo, P., Høgh Petersen, A., Porteous, M. E., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Rashid, M. U., Rhiem, K., Rizzolo, P., Robson, M. E., Rookus, M. A., Rossing, C. M., Ruddy, K. J., Santos, C., Saule, C., Scarpitta, R., Schmutzler, R. K., Schuster, H., Senter, L., Seynaeve, C. M., Shah, P. D., Sharma, P., Shin, V. Y., Silvestri, V., Simard, J., Singer, C. F., Skytte, A-B., Snape, K., Solano, A. R., Soucy, P., Southey, M. C., Spurdle, A. B., Steele, L., Steinemann, D., Stoppa-Lyonnet, D., Stradella, A., Sunde, L., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tommasi, S., Torres, D., Toss, A., Trainer, A. H., Tung, N., van Asperen, C. J., van der Baan, F. H., van der Kolk, L. E., van der Luijt, R. B., van Hest, L. P., Varesco, L., Varon-Mateeva, R., Viel, A., Vierstraete, J., Villa, R., von Wachenfeldt, A., Wagner, P., Wang-Gohrke, S., Wappenschmidt, B., Weitzel, J. N., Wieme, G., Yadav, S., Yannoukakos, D., Yoon, S-Y., Zanzottera, C., Zorn, K. K., D'Amico, A. V., Freedman, M. L., Pomerantz, M. M., Chenevix-Trench, G., Antoniou, A. C., Neuhausen, S. L., Ottini, L., Nielsen, H. R. & Rebbeck, T. R., 1 Feb 2020, In : Cancer Research. 80, 3, p. 624-638 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Machine learning can identify newly diagnosed patients with CLL at high risk of infection

    Agius, R., Brieghel, C., Andersen, M. A., Pearson, A. T., Ledergerber, B., Cozzi-Lepri, A., Louzoun, Y., Andersen, C. L., Bergstedt, J., von Stemann, J. H., Jørgensen, M., Tang, M-H. E., Fontes, M., Bahlo, J., Herling, C. D., Hallek, M., Lundgren, J., MacPherson, C. R., Larsen, J. & Niemann, C. U., 17 Jan 2020, In : Nature Communications. 11, 1, p. 363

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    GEMO Study Collaborators, Jan 2020, In : Nature Genetics. 52, 1, p. 56-73 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published
  20. Published

    Circulating cell free DNA during definitive chemo-radiotherapy in non-small cell lung cancer patients - initial observations

    Nygård, L., Ahlborn, L. B., Persson, G. F., Chandrananda, D., Langer, J. W., Fischer, B. M., Langer, S. W., Gabrielaite, M., Kjær, A., Rosenfeld, N., Mouliere, F., Østrup, O., Vogelius, I. R. & Bentzen, S. M., 2020, In : PLoS One. 15, 4, p. e0231884

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Primary ciliary dyskinesia patients have the same P. aeruginosa clone in sinuses and lungs

    Arndal, E., Johansen, H. K., Haagensen, J. A. J., Bartell, J. A., Marvig, R. L., Alanin, M., Aanæs, K., Høiby, N., Nielsen, K. G., Backer, V. & von Buchwald, C., 2020, In : The European Respiratory Journal. p. e1901472

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. 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

  23. 2019
  24. Published

    Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4)

    Jiang, X., Finucane, H. K., Schumacher, F. R., Schmit, S. L., Tyrer, J. P., Han, Y., Michailidou, K., Lesseur, C., Kuchenbaecker, K. B., Dennis, J., Conti, D. V., Casey, G., Gaudet, M. M., Huyghe, J. R., Albanes, D., Aldrich, M. C., Andrew, A. S., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C., Antonenkova, N. N., Arnold, S. M., Aronson, K. J., Arun, B. K., Bandera, E. V., Barkardottir, R. B., Barnes, D. R., Batra, J., Beckmann, M. W., Benitez, J., Benlloch, S., Berchuck, A., Berndt, S. I., Bickeböller, H., Bien, S. A., Blomqvist, C., Boccia, S., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Brauch, H., Brenner, H., Brenton, J. D., Brook, M. N., Brunet, J., Brunnström, H., Buchanan, D. D., Burwinkel, B., Butzow, R., Cadoni, G., Caldés, T., Caligo, M. A., Campbell, I., Campbell, P. T., Cancel-Tassin, G., Cannon-Albright, L., Campa, D., Caporaso, N., Carvalho, A. L., Chan, A. T., Chang-Claude, J., Chanock, S. J., Chen, C., Christiani, D. C., Claes, K. B. M., Claessens, F., Clements, J., Collée, J. M., Correa, M. C., Couch, F. J., Cox, A., Cunningham, J. M., Cybulski, C., Czene, K., Daly, M. B., deFazio, A., Devilee, P., Diez, O., Gago-Dominguez, M., Donovan, J. L., Dörk, T., Duell, E. J., Dunning, A. M., Dwek, M., Eccles, D. M., Edlund, C. K., Edwards, D. R. V., Ellberg, C., Evans, D. G., Fasching, P. A., Ferris, R. L., Liloglou, T., Figueiredo, J. C., Fletcher, O., Fortner, R. T., Fostira, F., Franceschi, S., Friedman, E., Gallinger, S. J., Ganz, P. A., Garber, J., García-Sáenz, J. A., Gayther, S. A., Giles, G. G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., Goode, E. L., Goodman, M. T., Goodman, G., Grankvist, K., Greene, M. H., Gronberg, H., Gronwald, J., Guénel, P., Håkansson, N., Hall, P., Hamann, U., Hamdy, F. C., Hamilton, R. J., Hampe, J., Haugen, A., Heitz, F., Herrero, R., Hillemanns, P., Hoffmeister, M., Høgdall, E., Hong, Y-C., Hopper, J. L., Houlston, R., Hulick, P. J., Hunter, D. J., Huntsman, D. G., Idos, G., Imyanitov, E. N., Ingles, S. A., Isaacs, C., Jakubowska, A., James, P., Jenkins, M. A., Johansson, M., Johansson, M., John, E. M., Joshi, A. D., Kaneva, R., Karlan, B. Y., Kelemen, L. E., Kühl, T., Khaw, K-T., Khusnutdinova, E., Kibel, A. S., Kiemeney, L. A., Kim, J., Kjaer, S. K., Knight, J. A., Kogevinas, M., Kote-Jarai, Z., Koutros, S., Kristensen, V. N., Kupryjanczyk, J., Lacko, M., Lam, S., Lambrechts, D., Landi, M. T., Lazarus, P., Le, N. D., Lee, E., Lejbkowicz, F., Lenz, H-J., Leslie, G., Lessel, D., Lester, J., Levine, D. A., Li, L., Li, C. I., Lindblom, A., Lindor, N. M., Liu, G., Loupakis, F., Lubiński, J., Maehle, L., Maier, C., Mannermaa, A., Marchand, L. L., Margolin, S., May, T., McGuffog, L., Meindl, A., Middha, P., Miller, A., Milne, R. L., MacInnis, R. J., Modugno, F., Montagna, M., Moreno, V., Moysich, K. B., Mucci, L., Muir, K., Mulligan, A. M., Nathanson, K. L., Neal, D. E., Ness, A. R., Neuhausen, S. L., Nevanlinna, H., Newcomb, P. A., Newcomb, L. F., Nielsen, F. C., Nikitina-Zake, L., Nordestgaard, B. G., Nussbaum, R. L., Offit, K., Olah, E., Olama, A. A. A., Olopade, O. I., Olshan, A. F., Olsson, H., Osorio, A., Pandha, H., Park, J. Y., Pashayan, N., Parsons, M. T., Pejovic, T., Penney, K. L., Peters, W. H. M., Phelan, C. M., Phipps, A. I., Plaseska-Karanfilska, D., Pring, M., Prokofyeva, D., Radice, P., Stefansson, K., Ramus, S. J., Raskin, L., Rennert, G., Rennert, H. S., van Rensburg, E. J., Riggan, M. J., Risch, H. A., Risch, A., Roobol, M. J., Rosenstein, B. S., Rossing, M. A., De Ruyck, K., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schabath, M. B., Schleutker, J., Schmidt, M. K., Setiawan, V. W., Shen, H., Siegel, E. M., Sieh, W., Singer, C. F., Slattery, M. L., Sorensen, K. D., Southey, M. C., Spurdle, A. B., Stanford, J. L., Stevens, V. L., Stintzing, S., Stone, J., Sundfeldt, K., Sutphen, R., Swerdlow, A. J., Tajara, E. H., Tangen, C. M., Tardon, A., Taylor, J. A., Teare, M. D., Teixeira, M. R., Terry, M. B., Terry, K. L., Thibodeau, S. N., Thomassen, M., Bjørge, L., Tischkowitz, M., Toland, A. E., Torres, D., Townsend, P. A., Travis, R. C., Tung, N., Tworoger, S. S., Ulrich, C. M., Usmani, N., Vachon, C. M., Van Nieuwenhuysen, E., Vega, A., Aguado-Barrera, M. E., Wang, Q., Webb, P. M., Weinberg, C. R., Weinstein, S., Weissler, M. C., Weitzel, J. N., West, C. M. L., White, E., Whittemore, A. S., Wichmann, H-E., Wiklund, F., Winqvist, R., Wolk, A., Woll, P., Woods, M., Wu, A. H., Wu, X., Yannoukakos, D., Zheng, W., Zienolddiny, S., Ziogas, A., Zorn, K. K., Lane, J. M., Saxena, R., Thomas, D., Hung, R. J., Diergaarde, B., McKay, J., Peters, U., Hsu, L., García-Closas, M., Eeles, R. A., Chenevix-Trench, G., Brennan, P. J., Haiman, C. A., Simard, J., Easton, D. F., Gruber, S. B., Pharoah, P. D. P., Price, A. L., Pasaniuc, B., Amos, C. I., Kraft, P. & Lindström, S., 1 Dec 2019, In : Nature Communications. 10, 1, p. 4386 4386.

    Research output: Contribution to journalComment/debateResearchpeer-review

  25. Published

    Shared heritability and functional enrichment across six solid cancers

    Jiang, X., Finucane, H. K., Schumacher, F. R., Schmit, S. L., Tyrer, J. P., Han, Y., Michailidou, K., Lesseur, C., Kuchenbaecker, K. B., Dennis, J., Conti, D. V., Casey, G., Gaudet, M. M., Huyghe, J. R., Albanes, D., Aldrich, M. C., Andrew, A. S., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C., Antonenkova, N. N., Arnold, S. M., Aronson, K. J., Arun, B. K., Bandera, E. V., Barkardottir, R. B., Barnes, D. R., Batra, J., Beckmann, M. W., Benitez, J., Benlloch, S., Berchuck, A., Berndt, S. I., Bickeböller, H., Bien, S. A., Blomqvist, C., Boccia, S., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Brauch, H., Brenner, H., Brenton, J. D., Brook, M. N., Brunet, J., Brunnström, H., Buchanan, D. D., Burwinkel, B., Butzow, R., Cadoni, G., Caldés, T., Caligo, M. A., Campbell, I., Campbell, P. T., Cancel-Tassin, G., Cannon-Albright, L., Campa, D., Caporaso, N., Carvalho, A. L., Chan, A. T., Chang-Claude, J., Chanock, S. J., Chen, C., Christiani, D. C., Claes, K. B. M., Claessens, F., Clements, J., Collée, J. M., Correa, M. C., Couch, F. J., Cox, A., Cunningham, J. M., Cybulski, C., Czene, K., Daly, M. B., deFazio, A., Devilee, P., Diez, O., Gago-Dominguez, M., Donovan, J. L., Dörk, T., Duell, E. J., Dunning, A. M., Dwek, M., Eccles, D. M., Edlund, C. K., Edwards, D. R. V., Ellberg, C., Evans, D. G., Fasching, P. A., Ferris, R. L., Liloglou, T., Figueiredo, J. C., Fletcher, O., Fortner, R. T., Fostira, F., Franceschi, S., Friedman, E., Gallinger, S. J., Ganz, P. A., Garber, J., García-Sáenz, J. A., Gayther, S. A., Giles, G. G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., Goode, E. L., Goodman, M. T., Goodman, G., Grankvist, K., Greene, M. H., Gronberg, H., Gronwald, J., Guénel, P., Håkansson, N., Hall, P., Hamann, U., Hamdy, F. C., Hamilton, R. J., Hampe, J., Haugen, A., Heitz, F., Herrero, R., Hillemanns, P., Hoffmeister, M., Høgdall, E., Hong, Y-C., Hopper, J. L., Houlston, R., Hulick, P. J., Hunter, D. J., Huntsman, D. G., Idos, G., Imyanitov, E. N., Ingles, S. A., Isaacs, C., Jakubowska, A., James, P., Jenkins, M. A., Johansson, M., Johansson, M., John, E. M., Joshi, A. D., Kaneva, R., Karlan, B. Y., Kelemen, L. E., Kühl, T., Khaw, K-T., Khusnutdinova, E., Kibel, A. S., Kiemeney, L. A., Kim, J., Kjaer, S. K., Knight, J. A., Kogevinas, M., Kote-Jarai, Z., Koutros, S., Kristensen, V. N., Kupryjanczyk, J., Lacko, M., Lam, S., Lambrechts, D., Landi, M. T., Lazarus, P., Le, N. D., Lee, E., Lejbkowicz, F., Lenz, H-J., Leslie, G., Lessel, D., Lester, J., Levine, D. A., Li, L., Li, C. I., Lindblom, A., Lindor, N. M., Liu, G., Loupakis, F., Lubiński, J., Maehle, L., Maier, C., Mannermaa, A., Marchand, L. L., Margolin, S., May, T., McGuffog, L., Meindl, A., Middha, P., Miller, A., Milne, R. L., MacInnis, R. J., Modugno, F., Montagna, M., Moreno, V., Moysich, K. B., Mucci, L., Muir, K., Mulligan, A. M., Nathanson, K. L., Neal, D. E., Ness, A. R., Neuhausen, S. L., Nevanlinna, H., Newcomb, P. A., Newcomb, L. F., Nielsen, F. C., Nikitina-Zake, L., Nordestgaard, B. G., Nussbaum, R. L., Offit, K., Olah, E., Olama, A. A. A., Olopade, O. I., Olshan, A. F., Olsson, H., Osorio, A., Pandha, H., Park, J. Y., Pashayan, N., Parsons, M. T., Pejovic, T., Penney, K. L., Peters, W. H. M., Phelan, C. M., Phipps, A. I., Plaseska-Karanfilska, D., Pring, M., Prokofyeva, D., Radice, P., Stefansson, K., Ramus, S. J., Raskin, L., Rennert, G., Rennert, H. S., van Rensburg, E. J., Riggan, M. J., Risch, H. A., Risch, A., Roobol, M. J., Rosenstein, B. S., Rossing, M. A., De Ruyck, K., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schabath, M. B., Schleutker, J., Schmidt, M. K., Setiawan, V. W., Shen, H., Siegel, E. M., Sieh, W., Singer, C. F., Slattery, M. L., Sorensen, K. D., Southey, M. C., Spurdle, A. B., Stanford, J. L., Stevens, V. L., Stintzing, S., Stone, J., Sundfeldt, K., Sutphen, R., Swerdlow, A. J., Tajara, E. H., Tangen, C. M., Tardon, A., Taylor, J. A., Teare, M. D., Teixeira, M. R., Terry, M. B., Terry, K. L., Thibodeau, S. N., Thomassen, M., Bjørge, L., Tischkowitz, M., Toland, A. E., Torres, D., Townsend, P. A., Travis, R. C., Tung, N., Tworoger, S. S., Ulrich, C. M., Usmani, N., Vachon, C. M., Van Nieuwenhuysen, E., Vega, A., Aguado-Barrera, M. E., Wang, Q., Webb, P. M., Weinberg, C. R., Weinstein, S., Weissler, M. C., Weitzel, J. N., West, C. M. L., White, E., Whittemore, A. S., Wichmann, H-E., Wiklund, F., Winqvist, R., Wolk, A., Woll, P., Woods, M., Wu, A. H., Wu, X., Yannoukakos, D., Zheng, W., Zienolddiny, S., Ziogas, A., Zorn, K. K., Lane, J. M., Saxena, R., Thomas, D., Hung, R. J., Diergaarde, B., McKay, J., Peters, U., Hsu, L., García-Closas, M., Eeles, R. A., Chenevix-Trench, G., Brennan, P. J., Haiman, C. A., Simard, J., Easton, D. F., Gruber, S. B., Pharoah, P. D. P., Price, A. L., Pasaniuc, B., Amos, C. I., Kraft, P. & Lindström, S., 1 Dec 2019, In : Nature Communications. 10, 1, p. 431 431.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Systematic review of machine learning for diagnosis and prognosis in dermatology

    Thomsen, K., Iversen, L., Titlestad, T. L. & Winther, O., 31 Oct 2019, In : The Journal of dermatological treatment. p. 1-15 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Single mRNP Analysis Reveals that Small Cytoplasmic mRNP Granules Represent mRNA Singletons

    Mateu-Regué, À., Christiansen, J., Bagger, F. O., Winther, O., Hellriegel, C. & Nielsen, F. C., 15 Oct 2019, In : Cell Reports. 29, 3, p. 736-748.e4

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Transcriptome analysis in patients with temporal lobe epilepsy

    Kjær, C., Barzaghi, G., Bak, L. K., Goetze, J. P., Yde, C. W., Woldbye, D., Pinborg, L. H. & Jensen, L. J., 1 Oct 2019, In : Brain : a journal of neurology. 142, 10, 2 p., e55.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Detecting sequence signals in targeting peptides using deep learning

    Almagro Armenteros, J. J., Salvatore, M., Emanuelsson, O., Winther, O., von Heijne, G., Elofsson, A. & Nielsen, H., Oct 2019, In : Life Science Alliance. 2, 5, p. 1-14 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases

    Frederiksen, A., Rossing, M., Hermann, P., Ejersted, C., Thakker, R. V. & Frost, M., 1 Sep 2019, In : The Journal of clinical endocrinology and metabolism. 104, 9, p. 3637-3646 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden

    Okkels, H., Lagerstedt-Robinsson, K., Wikman, F. P., Hansen, T. V. O., Lolas, I., Lindberg, L. J. & Krarup, H. B., Sep 2019, In : Genetic Testing and Molecular Biomarkers. 23, 9, p. 688-695 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    Capture and Detection of Circulating Glioma Cells Using the Recombinant VAR2CSA Malaria Protein

    Bang-Christensen, S. R., Pedersen, R. S., Pereira, M. A., Clausen, T. M., Løppke, C., Sand, N. T., Ahrens, T. D., Jørgensen, A. M., Lim, Y. C., Goksøyr, L., Choudhary, S., Gustavsson, T., Dagil, R., Daugaard, M., Sander, A. F., Torp, M. H., Søgaard, M., Theander, T. G., Østrup, O., Lassen, U., Hamerlik, P., Salanti, A. & Agerbæk, M. Ø., 28 Aug 2019, In : Cells. 8, 9, p. E998

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published
  34. Published

    Deconvolution of autoencoders to learn biological regulatory modules from single cell mRNA sequencing data

    Kinalis, S., Nielsen, F. C., Winther, O. & Bagger, F. O., 8 Jul 2019, In : BMC Bioinformatics. 20, 1, p. 379

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    A Gain-of-Function p53-Mutant Oncogene Promotes Cell Fate Plasticity and Myeloid Leukemia through the Pluripotency Factor FOXH1

    Loizou, E., Banito, A., Livshits, G., Ho, Y-J., Koche, R. P., Sánchez-Rivera, F. J., Mayle, A., Chen, C-C., Kinalis, S., Bagger, F. O., Kastenhuber, E. R., Durham, B. H. & Lowe, S. W., Jul 2019, In : Cancer Discovery. 9, 7, p. 962-979 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

    kConFab investigators, Jul 2019, In : British Journal of Cancer. 121, 2, p. 180-192 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published
  38. Published

    Long-term follow-up of RET Y791F carriers in Denmark 1994-2017: A National Cohort Study

    Høxbroe Michaelsen, S., Ornstrup, M. J., Poulsen, M. M., Bennedbaek, F. N., Gaustadnes, M., Rossing, M., Darling, P., Vestergaard, P. & Mathiesen, J. S., May 2019, In : Journal of Surgical Oncology. 119, 6, p. 687-693 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Toward liquid biopsies in cancer treatment: application of circulating tumor DNA

    Barlebo Ahlborn, L. & Østrup, O., May 2019, In : APMIS - Journal of Pathology, Microbiology and Immunology. 127, 5, p. 329-336 8 p.

    Research output: Contribution to journalReviewResearchpeer-review

  40. Published

    Whole genome sequencing of breast cancer

    Rossing, M., Sørensen, C. S., Ejlertsen, B. & Nielsen, F. C., May 2019, In : APMIS - Journal of Pathology, Microbiology and Immunology. 127, 5, p. 303-315 13 p.

    Research output: Contribution to journalReviewResearchpeer-review

  41. Published

    Filamentous bacteriophages are associated with chronic Pseudomonas lung infections and antibiotic resistance in cystic fibrosis

    Burgener, E. B., Sweere, J. M., Bach, M. S., Secor, P. R., Haddock, N., Jennings, L. K., Marvig, R. L., Johansen, H. K., Rossi, E., Cao, X., Tian, L., Nedelec, L., Molin, S., Bollyky, P. L. & Milla, C. E., 17 Apr 2019, In : Science translational medicine. 11, 488, p. eaau9748

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

    EMBRACE Collaborators, 15 Apr 2019, In : Nature Communications. 10, 1, p. 1741

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    Genomisk medicin

    Nielsen, F. C., 1 Apr 2019, In : Ugeskrift for Laeger. 181, 7A, p. 680-684 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

    GEMO Study Collaborators, 1 Apr 2019, In : National Cancer Institute. Journal (Online). 111, 4, p. 350-364 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published
  46. Published

    Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia

    Leinøe, E., Gabrielaite, M., Østrup, O., Funding, E., Greinacher, A., Ostrowski, S. R., Zetterberg, E. & Rossing, M., 25 Mar 2019, In : British Journal of Haematology. 186, p. 372-376 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Getting the Most from Your High-Dimensional Cytometry Data

    Olsen, L. R., Pedersen, C. B., Leipold, M. D. & Maecker, H. T., 19 Mar 2019, In : Immunity. 50, 3, p. 535-536 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published
  49. Published

    Application of cell-free DNA for genomic tumor profiling: a feasibility study

    Ahlborn, L. B., Rohrberg, K. S., Gabrielaite, M., Tuxen, I. V., Yde, C. W., Spanggaard, I., Santoni-Rugiu, E., Nielsen, F. C., Lassen, U., Mau-Sorensen, M. & Østrup, O., 15 Feb 2019, In : Oncotarget. 10, 14, p. 1388-1398 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Published

    The anatomy of single cell mass cytometry data

    Olsen, L. R., Leipold, M. D., Pedersen, C. B. & Maecker, H. T., Feb 2019, In : Cytometry. Part A : the journal of the International Society for Analytical Cytology. 95, 2, p. 156-172 17 p.

    Research output: Contribution to journalReviewResearchpeer-review

  51. Published

    GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes

    Caleca, L., Colombo, M., van Overeem Hansen, T., Lázaro, C., Manoukian, S., Parsons, M. T., Spurdle, A. B. & Radice, P., 28 Jan 2019, In : Cancers. 11, 2

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. Published

    BloodSpot: a database of healthy and malignant haematopoiesis updated with purified and single cell mRNA sequencing profiles

    Bagger, F. O., Kinalis, S. & Rapin, N., 8 Jan 2019, In : Nucleic Acids Research. 47, D1, p. D881-D885

    Research output: Contribution to journalJournal articleResearchpeer-review

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