Finn Cilius Nielsen

Molecular subtyping improves breast cancer diagnosis in the Copenhagen Breast Cancer Genomics Study

Berg, T., Jensen, M. B., Celik, A., Talman, M. L., Misiakou, M. A., Knoop, A. S., Nielsen, Finn Cilius, Ejlertsen, Bent Laursen & Rossing, Caroline Maria, 2024, In: JCI insight. 9, 7, 13 p., e178114.

Research output: Contribution to journal › Journal article › Research › peer-review

Multigene profiles to guide the use of neoadjuvant chemotherapy for breast cancer: a Copenhagen Breast Cancer Genomics Study

Jensen, M., Pedersen, C. B., Misiakou, M., Talman, M. L. M., Gibson, L., Tange, U. B., Kledal, H., Vejborg, I., Kroman, Niels Thorndahl, Nielsen, Finn Cilius, Ejlertsen, Bent Laursen & Rossing, M., 2023, In: npj Breast Cancer. 9, 8 p., 47.

Research output: Contribution to journal › Journal article › Research › peer-review

Neoepitope load, T cell signatures and PD-L2 as combined biomarker strategy for response to checkpoint inhibition immunotherapy

Borch, A., Bjerregaard, A. M., Araujo Barbosa de Lima, V., Østrup, O., Yde, C. W., Eklund, A. C., Mau-Sørensen, M., Barra, C., Svane, Inge Marie, Nielsen, Finn Cilius, Funt, S. A., Lassen, Ulrik Niels & Hadrup, S. R., 2023, In: Frontiers in Genetics. 14, 13 p., 1058605.

Research output: Contribution to journal › Journal article › Research › peer-review

New pathogenic germline variants identified in mesothelioma

Belcaid, L., Bertelsen, B., Wadt, Karin Anna Wallentin, Tuxen, I., Spanggaard, I., Højgaard, M., Sørensen, Jens Benn, Ravn, J., Lassen, Ulrik Niels, Nielsen, Finn Cilius, Rohrberg, K. & Westmose Yde, C., 2023, In: Lung Cancer. 179, 8 p., 107172.

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

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

The Incidence, Survival, and HPV Impact of Second Primary Cancer following Primary Oropharyngeal Squamous Cell Carcinoma: A 20-Year Retrospective and Population-Based Study

Andersen, L., Jakobsen, K. K., Carlander, A. L. F., Garset-Zamani, M., Friborg, Jeppe Tang, Kiss, K., Marvig, R. L., Olsen, C., Nielsen, Finn Cilius, Andersen, E., Grønhøj, Christian & von Buchwald, Christian, 2023, In: Viruses. 15, 1, 34.

Research output: Contribution to journal › Journal article › Research › peer-review

Intestinal metaplasia is a precursor lesion for sinonasal intestinal-type adenocarcinoma: genomic investigation of a case proving this hypothesis

Sjöstedt, S., Schmidt, A. Y., Vieira, Filipe Garrett, Woller, N. C., Nielsen, Finn Cilius & von Buchwald, Christian, Jan 2022, In: APMIS. 130, 1, p. 53-56 4 p.

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

A catalog of curated breast cancer genes

Bose, M., Benada, Jan, Thatte, Jayashree Vijay, Kinalis, S., Ejlertsen, Bent Laursen, Nielsen, Finn Cilius, Sørensen, Claus Storgaard & Rossing, Caroline Maria, 2022, In: Breast Cancer Research and Treatment. 191, p. 431-441

Research output: Contribution to journal › Journal article › Research › peer-review

Benchmarking full-length transcript single cell mRNA sequencing protocols

Probst, V., Simonyan, Arman, Pacheco, F., Guo, Yuliu, Nielsen, Finn Cilius & Bagger, F. O., 2022, In: BMC Genomics. 23, 860.

Research output: Contribution to journal › Journal article › Research › peer-review

Differences in gene expression despite identical histomorphology in sinonasal intestinal-type adenocarcinoma and metastases from colorectal adenocarcinoma

Sjöstedt, S., Vieira, Filipe Garrett, Karnov, K., Agander, T. K., Willemoe, G. L., Rohrberg, K. S., Nielsen, Finn Cilius & von Buchwald, Christian, 2022, In: APMIS. 130, 9, p. 551-559

Research output: Contribution to journal › Journal article › Research › peer-review

Extensive genomic analysis in patients with KRAS-mutated solid tumors shows high frequencies of concurrent alterations and potential targets but has limited clinical impact

Jacobsen, I. C., Spanggaard, I., Højgaard, M., Belcaid, L., Qvortrup, Camilla, Yde, C. W., Schmidt, A. Y., Nielsen, Finn Cilius, Willemoe, G. L., Dam, M. S., Lassen, Ulrik Niels & Staal Rohrberg, K., 2022, In: Acta Oncologica. 61, 12, p. 1499-1506 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Impact of specific high-risk human papillomavirus genotypes on survival in oropharyngeal cancer

Garset-Zamani, M., Carlander, A. F., Jakobsen, K. K., Friborg, Jeppe Tang, Kiss, K., Marvig, R. L., Olsen, C., Nielsen, Finn Cilius, Andersen, E., Grønhøj, Christian & von Buchwald, Christian, 2022, In: International Journal of Cancer. 150, 7, p. 1174-1183

Research output: Contribution to journal › Journal article › Research › peer-review

Interpretable autoencoders trained on single cell sequencing data can transfer directly to data from unseen tissues

Walbech, J. S., Kinalis, S., Winther, Ole, Nielsen, Finn Cilius & Bagger, F. O., 2022, In: Cells. 11, 12 p., 85.

Research output: Contribution to journal › Journal article › Research › peer-review

MicroRNA-9-3p: a novel predictor of neurological outcome after cardiac arrest

Beske, R. P., Bache, S., Meyer, M. A. S., Kjærgaard, Jesper, Bro-Jeppesen, J., Obling, L., Olsen, M. H., Rossing, Caroline Maria, Nielsen, Finn Cilius, Møller, Kirsten, Nielsen, N. & Hassager, Christian, 2022, In: European Heart Journal: Acute Cardiovascular Care. 11, 8, p. 609-616 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Personalized circulating tumor DNA in patients with hepatocellular carcinoma: a pilot study

Pommergaard, Hans-Christian L, Yde, C. W., Ahlborn, L. B., Andersen, C. L., Henriksen, T., Hasselby, Jane Preuss, Rostved, A. A., Sorensen, C. L., Rohrberg, K. S., Nielsen, Finn Cilius & Rasmussen, Anne, 2022, In: Molecular Biology Reports. 49, 2, p. 1609-1616 8 p.

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

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Dareng, E. O., Tyrer, J. P., Barnes, D. R., Jones, M. R., Yang, X., Aben, K. K. H., Adank, M. A., Agata, S., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Aravantinos, G., Arun, B. K., Augustinsson, A., Balmaña, J., Bandera, E. V., Barkardottir, R. B., Barrowdale, D., Beckmann, M. W., Beeghly-Fadiel, A. & 39 others, Benitez, J., Bermisheva, M., Bernardini, M. Q., Bjorge, L., Black, A., Bogdanova, N. V., Bonanni, B., Borg, A., Brenton, J. D., Budzilowska, A., Butzow, R., Buys, S. S., Cai, H., Caligo, M. A., Campbell, I., Cannioto, R., Cassingham, H., Chang-Claude, J., Chanock, S. J., Chen, K., Chiew, Y. E., Chung, W. K., Claes, K. B. M., Colonna, S., Hansen, Thomas van Overeem, Høgdall, Estrid Vilma Solyom, Høgdall, Claus Kim, Jensen, A., Kjær, Susanne Krüger, Nielsen, Finn Cilius, GEMO Study Collaborators, G. S. C., GC-HBOC Study Collaborators, G. S. C., EMBRACE Collaborators, E. C., OPAL Study Group, O. S. G., AOCS Group, A. G., kConFab Investigators, K. I., HEBON Investigators, H. I., OCAC Consortium, O. C. & CIMBA Consortium, C. C., 2022, In: European journal of human genetics : EJHG. 30, 3, p. 349-362 14 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Targeting the tumor mutanome for personalized vaccination in a TMB low non-small cell lung cancer

McCann, K., Von Witzleben, A., Thomas, J., Wang, C., Wood, O., Singh, D., Boukas, K., Bendjama, K., Silvestre, N., Nielsen, Finn Cilius, Thomas, G., Sanchez-Elsner, T., Greenbaum, J., Schoenberger, S., Peters, B., Vijayanand, P., Savelyeva, N. & Ottensmeier, C., 2022, In: Journal for ImmunoTherapy of Cancer. 10, 3, 14 p., e003821.

Research output: Contribution to journal › Journal article › Research › peer-review

Tumor mutational burden and purity adjustment before and after treatment with temozolomide in 27 paired samples of glioblastoma: a prospective study

Nørøxe, D. S., Flynn, A., Yde, C. W., Østrup, O., Nielsen, Finn Cilius, Skjøth, Jane, Brennum, J., Hamerlik, P., Weischenfeldt, Joachim Lütken, Skovgaard Poulsen, H. & Lassen, Ulrik Niels, 2022, In: Molecular Oncology. 16, 1, p. 206-218

Research output: Contribution to journal › Journal article › Research › peer-review

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

GEMO Study Collaborators, G. S. C., EMBRACE Collaborators, E. C., kConFab Investigators, K. I., HEBON Investigators, H. I. & ABCTB Investigators, A. I., Dec 2021, In: Nature Communications. 12, 1, 22 p., 1078.

Research output: Contribution to journal › Journal article › Research › peer-review

Clinical implications of intrinsic molecular subtypes of breast cancer for sentinel node status

Rossing, M., Pedersen, C. B., Tvedskov, Tove Filtenborg, Vejborg, I., Talman, M. L., Olsen, L. R., Kroman, Niels Thorndahl, Nielsen, Finn Cilius, Jensen, M. B. & Ejlertsen, Bent Laursen, Dec 2021, In: Scientific Reports. 11, 1, 12 p., 2259.

Research output: Contribution to journal › Journal article › Research › peer-review

Major driver mutations are shared between sinonasal intestinal-type adenocarcinoma and the morphologically identical colorectal adenocarcinoma

Sjöstedt, S., Schmidt, A. Y., Vieira, Filipe Garrett, Willemoe, G. L., Agander, T. K., Olsen, C., Nielsen, Finn Cilius & von Buchwald, Christian, Apr 2021, In: Journal of Cancer Research and Clinical Oncology. 147, 4, p. 1019-1027 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Achromobacter spp. genetic adaptation in cystic fibrosis

Gabrielaite, M., Nielsen, Finn Cilius, Johansen, Helle Krogh & Marvig, R. L., 2021, In: Microbial genomics. 7, 7, 13 p., 000582.

Research output: Contribution to journal › Journal article › Research › peer-review

A comparison of tools for copy-number variation detection in germline whole exome and whole genome sequencing data

Gabrielaite, M., Torp, M. H., Rasmussen, Malthe Sebro, Andreu-Sánchez, S., Vieira, Filipe Garrett, Pedersen, C. B., Kinalis, S., Madsen, M. B., Kodama, M., Demircan, G. S., Simonyan, A., Yde, C. W., Olsen, L. R., Marvig, R. L., Østrup, O., Rossing, Caroline Maria, Nielsen, Finn Cilius, Winther, Ole & Bagger, F. O., 2021, In: Cancers. 13, 24, 6283.

Research output: Contribution to journal › Journal article › Research › peer-review

A simple, safe and sensitive method for SARS-CoV-2 inactivation and RNA extraction for RT-qPCR

Kalnina, L., Mateu-Regué, À., Oerum, S., Hald, A., Gerstoft, Jan, Oerum, H., Nielsen, Finn Cilius & Iversen, A. K. N., 2021, In: APMIS. 129, 7, p. 393-400 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Genomic alterations in human papillomavirus-positive and -negative conjunctival squamous cell carcinomas

Ramberg, Ingvild Margrethe Sellæg, Vieira, Filipe Garrett, Toft, Peter Bjerre, von Buchwald, Christian, Funding, M., Nielsen, Finn Cilius & Heegaard, Steffen, 2021, In: Investigative Ophthalmology and Visual Science. 62, 14, 11.

Research output: Contribution to journal › Journal article › Research › peer-review

Transmission and Antibiotic Resistance of Achromobacter in Cystic Fibrosis

Gabrielaite, M., Bartell, J. A., Nørskov-Lauritsen, N., Pressler, T., Nielsen, Finn Cilius, Johansen, Helle Krogh & Marviga, R. L., 2021, In: Journal of Clinical Microbiology. 59, 4, e02911-20.

Research output: Contribution to journal › Journal article › Research › peer-review

Unveiling mRNP composition by fluorescence correlation and cross-correlation spectroscopy using cell lysates

Mateu-Regué, À., Christiansen, Jan, Bagger, F. O., Hellriegel, C. & Nielsen, Finn Cilius, 2021, In: Nucleic Acids Research. 49, 20, 15 p., e119.

Research output: Contribution to journal › Journal article › Research › peer-review

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Barnes, D. R., Rookus, M. A., Mcguffog, L., Leslie, G., Mooij, T. M., Dennis, J., Mavaddat, N., Adlard, J., Ahmed, M., Aittomäki, K., Andrieu, N., Andrulis, I. L., Arnold, N., Arun, B. K., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barrowdale, D., Benitez, J., Berthet, P. & 31 others, Białkowska, K., Blanco, A. M., Blok, M. J., Bonanni, B., Boonen, S. E., Borg, Å., Bozsik, A., Bradbury, A. R., Brennan, P., Brewer, C., Brunet, J., Buys, S. S., Caldés, T., Caligo, M. A., Campbell, I., Christensen, L. L., Chung, W. K., Claes, K. B. M., Colas, C., Collonge-rame, M., Cook, J., Daly, M. B., Davidson, R., De La Hoya, M., De Putter, R., Delnatte, C., Devilee, P., Ejlertsen, Bent Laursen, Gerdes, Anne-Marie Axø, Nielsen, Finn Cilius & Consortium of Investigators of Modifiers of BRCA and BRCA2, C. O. I. O. M. O. B. A. B., 1 Oct 2020, In: Genetics in Medicine. 22, 10, p. 1653-1666 14 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stability

Zarrizi, R., Higgs, M. R., Voßgröne, Karolin, Rossing, M., Bertelsen, B., Bose, M., Kousholt, A. N., Rösner, Heike Ilona, Network, T. C., Ejlertsen, Bent Laursen, Stewart, G. S., Nielsen, Finn Cilius & Sørensen, Claus Storgaard, 3 Aug 2020, In: The Journal of Clinical Investigation. 130, 8, p. 4069-4080 12 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Zhang, H., Ahearn, T. U., Lecarpentier, J., Barnes, D., Beesley, J., Qi, G., Jiang, X., O'Mara, T. A., Zhao, N., Bolla, M. K., Dunning, A. M., Dennis, J., Wang, Q., Ful, Z. A., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Aronson, K. J., Arun, B. K. & 31 others, Auer, P. L., Azzollini, J., Barrowdale, D., Becher, H., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Bialkowska, K., Blanco, A., Blomqvist, C., Bogdanova, N. V., Bojesen, Stig Egil, Bonanni, B., Bondavalli, D., Borg, A., Brauch, H., Brenner, H., Briceno, I., Broeks, A., Brucker, S. Y., Brüning, T., Burwinkel, B., Buys, S. S., Byers, H., Caldés, T., Caligo, M. A., Christiansen, H., Lænkholm, Anne-Vibeke, Nielsen, Finn Cilius & kConFab Investigators, K. I., Jun 2020, In: Nature Genetics. 52, 6, p. 572-581 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Tumor miRNA expression profile is related to vestibular schwannoma growth rate

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

Research output: Contribution to journal › Journal article › Research › peer-review

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, Finn Cilius & Niemann, Carsten, 15 Mar 2020, In: Clinical Cancer Research. 26, 6, p. 1507-1515 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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. & 243 others, 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., Puppa, L. D., 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, Bent Laursen, 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, Anne-Marie Axø, 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, K., 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., Kim, Z., Ko, K., Konstantopoulou, I., Kramer, G., Krogh, L., Kruse, T. A., Kwong, A., Larsen, M., Lasset, C., Lautrup, C., Lazaro, 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., Gomes, D. M., Montagna, M., Mooij, T. M., Moserle, L., Mouret-Fourme, E., Mulligan, A. M., Nathanson, K. L., Navratilova, M., Nevanlinna, H., Niederacher, D., Nielsen, Finn Cilius, Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Ong, K., Osorio, A., Ott, C., Palli, D., Park, S. K., Parsons, M. T., Pedersen, I. S., Peissel, B., Peixoto, A., Pérez-Segura, P., Peterlongo, P., Petersen, A. H., 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., 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., 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 journal › Journal article › Research › peer-review

Amplicon-Based NGS Panels for Actionable Cancer Target Identification in Follicular Cell-Derived Thyroid Neoplasia

Madsen, M. B., Kiss, K., Nielsen, Finn Cilius, Bennedbæk, F. N. & Rossing, M., 2020, In: Frontiers in Endocrinology. 11, 8 p., 146.

Research output: Contribution to journal › Journal article › Research › peer-review

Chromothripsis and DNA Repair Disorders

Nazaryan, Lusine, Bjerregaard, Victoria Alexandra, Nielsen, Finn Cilius, Tommerup, Niels & Tümer, Asuman Zeynep, 2020, In: Journal of Clinical Medicine. 9, 3, 9 p., 613.

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

Cytoplasmic mRNPs revisited: Singletons and condensates

Mateu-Regue, A., Nielsen, Finn Cilius & Christiansen, Jan, 2020, In: BioEssays. 42, 12, 13 p., 2000097.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Fachal, L., Aschard, H., Beesley, J., Barnes, D. R., Allen, J., Kar, S., Pooley, K. A., Dennis, J., Michailidou, K., Turman, C., Soucy, P., Lemaçon, A., Lush, M., Tyrer, J. P., Ghoussaini, M., Marjaneh, M. M., Jiang, X., Agata, S., Aittomäki, K., Alonso, M. R. & 35 others, Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arason, A., Arndt, V., Aronson, K. J., Arun, B. K., Auber, B., Auer, P. L., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barrowdale, D., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Białkowska, K., Blanco, A. M., Blomqvist, C., Blot, W., Bogdanova, N. V., Bojesen, Stig Egil, Bolla, M. K., Bonanni, B., Borg, A., Bosse, K., Brauch, H., Flyger, H., Nielsen, Finn Cilius, Wang, Q., ABCTB Investigators, A. I., GEMO Study Collaborators, G. S. C., EMBRACE Collaborators, E. C., kConFab Investigators, K. I. & HEBON Investigators, H. I., 2020, In: Nature Genetics. 52, 1, p. 56-73 18 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Gene loss and acquisition in lineages of pseudomonas aeruginosa evolving in cystic fibrosis patient airways

Gabrielaite, M., Johansen, Helle Krogh, Molin, S., Nielsen, Finn Cilius & Marvig, R. L., 2020, In: mBio. 11, 5, p. 1-16 16 p., e02359-20.

Research output: Contribution to journal › Journal article › Research › peer-review

Genomic profiling of newly diagnosed glioblastoma patients and its potential for clinical utility – a prospective, translational study

Nørøxe, D. S., Yde, C. W., Østrup, O., Michaelsen, Signe Regner, Schmidt, A. Y., Kinalis, S., Torp, M. H., Skjøth‐Rasmussen, J., Brennum, J., Hamerlik, P., Poulsen, H. S., Nielsen, Finn Cilius & Lassen, Ulrik Niels, 2020, In: Molecular Oncology.

Research output: Contribution to journal › Journal article › Research › peer-review

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

Figlioli, G., Kvist, A., Tham, E., Soukupova, J., Kleiblova, P., Muranen, T. A., Andrieu, N., Azzollini, J., Balmaña, J., Barroso, A., Benítez, J., Bertelsen, B., Blanco, A., Bonanni, B., Borg, Å., Brunet, J., Calistri, D., Calvello, M., Chvojka, S., Cortesi, L. & 31 others, Darder, E., Del Valle, J., Diez, O., Eon-Marchais, S., Fostira, F., Gensini, F., Houdayer, C., Janatova, M., Kiiski, J. I., Konstantopoulou, I., Kubelka-Sabit, K., Lázaro, C., Lesueur, F., Manoukian, S., Marcinkute, R., Mickys, U., Moncoutier, V., Myszka, A., Nguyen-Dumont, T., Nielsen, Finn Cilius, Norvilas, R., Olah, E., Osorio, A., Papi, L., Peissel, B., Peixoto, A., Plaseska-Karanfilska, D., Pócza, T., Rossing, M., Rudaitis, V. & ENIGMA Consortium, E. C., 2020, In: Cancers. 12, 2, 10 p., 292.

Research output: Contribution to journal › Journal article › Research › peer-review

The current epidemic of HPV-associated oropharyngeal cancer: An 18-year Danish population-based study with 2,169 patients

Zamani, M., Grønhøj, C., Jensen, D. H., Carlander, A. F., Agander, T., Kiss, K., Olsen, C., Baandrup, L., Nielsen, Finn Cilius, Andersen, E. V., Friborg, Jeppe Tang & von Buchwald, Christian, 2020, In: European Journal of Cancer. 134, p. 52-59

Research output: Contribution to journal › Journal article › Research › peer-review

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Feng, H., Gusev, A., Pasaniuc, B., Wu, L., Long, J., Abu-full, Z., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C., Arason, A., Arndt, V., Aronson, K. J., Arun, B. K., Asseryanis, E., Auer, P. L., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barnes, D. R. & 37 others, Barrowdale, D., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Białkowska, K., Blanco, A., Blomqvist, C., Boeckx, B., Bogdanova, N. V., Bojesen, Stig Egil, Bolla, M. K., Bonanni, B., Borg, A., Brauch, H., Brenner, H., Briceno, I., Broeks, A., Brüning, T., Burwinkel, B., Cai, Q., Caldés, T., Caligo, M. A., Campbell, I., Canisius, S., Christiansen, H., Ejlertsen, Bent Laursen, Flyger, H., Nielsen, Finn Cilius, Wang, Q., ABCTB Investigators, A. I., HEBON Investigators, H. I., BCFR Investigators, B. I., OCGN Investigators, O. I., GEMO Study Collaborators, G. S. C., EMBRACE Collaborators, E. C. & GC-HBOC Study Collaborators, G. S. C., 2020, In: Genetic Epidemiology. 44, 5, p. 442-468

Research output: Contribution to journal › Journal article › Research › peer-review

Ultra-fast detection and quantification of nucleic acids by amplification-free fluorescence assay

Uhd, J., Miotke, L., Ji, H. P., Dunaeva, M., Pruijn, G. J. M., Jørgensen, C. D., Kristoffersen, E. L., Birkedal, V., Yde, C. W., Nielsen, Finn Cilius, Hansen, J. & Astakhova, K., 2020, In: Analyst. 145, 17, p. 5836-5844 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Dimopoulou, C., Lundgren, Jens, Sundal, J., Ullum, H., Aukrust, P., Nielsen, Finn Cilius & Marvig, R. L., 2020, In: Journal of Human Genetics. 65, 3, p. 325-335 11 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Deep targeted sequencing of TP53 in chronic lymphocytic leukemia: clinical impact at diagnosis and at time of treatment

Brieghel, C., Kinalis, S., Yde, C. W., Schmidt, A. Y., Jønson, L., Andersen, M. A., da Cunha-Bang, C., Pedersen, L. B., Geisler, C. H., Nielsen, Finn Cilius & Niemann, Carsten, Apr 2019, In: Haematologica. 104, 4, p. 789-796 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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, Eric, Nielsen, Finn Cilius, Lassen, Ulrik Niels, Mau-Sorensen, M. & Østrup, O., Feb 2019, In: OncoTarget. 10, 14, p. 1388-1398

Research output: Contribution to journal › Journal article › Research › peer-review

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. & 313 others, 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, Stig Egil, 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, Estrid Vilma Solyom, Hong, Y., 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., Khusnutdinova, E., Kibel, A. S., Kiemeney, L. A., Kim, J., Kjær, Susanne Krüger, 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., 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, Finn Cilius, Nikitina-Zake, L., Nordestgaard, Børge, 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., 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., 25 Jan 2019, In: Nature Communications. 10, 1, 23 p., 431.

Research output: Contribution to journal › Journal article › Research › peer-review

Cell-free DNA in newly diagnosed patients with glioblastoma - a clinical prospective feasibility study

Nørøxe, D. S., Østrup, O., Yde, C. W., Ahlborn, L. B., Nielsen, Finn Cilius, Michaelsen, Signe Regner, Larsen, V. A., Skjøth-Rasmussen, J., Brennum, J., Hamerlik, P., Poulsen, H. S. & Lassen, Ulrik Niels, 2019, In: OncoTarget. 10, 43, p. 4397-4406 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark 1997–2013: A nationwide study

Danish Thyroid Cancer Group (DATHYRCA), D. T. C. G. (., 2019, In: Clinical Epidemiology. 11, p. 93-99 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Copenhagen prospective personalized oncology (COPPO)—Clinical utility of using molecular profiling to select patients to phase I trials

Tuxen, I. V., Rohrberg, K. S., Oestrup, O., Ahlborn, L. B., Schmidt, A. Y., Spanggaard, I., Hasselby, Jane Preuss, Santoni Rugiu, Eric, Yde, C. W., Mau-Sørensen, M., Nielsen, Finn Cilius & Lassen, Ulrik Niels, 2019, In: Clinical Cancer Research. 25, 4, p. 1239-1247 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Kinalis, S., Nielsen, Finn Cilius, Winther, Ole & Bagger, F. O., 2019, In: BMC Bioinformatics. 20, 9 p., 379.

Research output: Contribution to journal › Journal article › Research › peer-review

Elevated mir-9 in Cerebrospinal Fluid is Associated With Poor Functional Outcome After Subarachnoid Hemorrhage

Bache, S., Rasmussen, R., Wolcott, Z., Rossing, M., Møgelvang, R., Tolnai, D., Hassager, Christian, Forman, Julie Lyng, Køber, Lars Valeur, Nielsen, Finn Cilius, Kimberly, W. T. & Møller, Kirsten, 2019, In: Stroke. 50, Supplement 1, 1 p., A149.

Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

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

EMBRACE Collaborators, E. C., GC-HBOC Study Collaborators, G. S. C., GEMO Study Collaborators, G. S. C., ABCTB Investigators, A. I., HEBON Investigators, H. I. & BCFR Investigators, B. I., 2019, In: Nature Communications. 10, 1, 18 p., 1741.

Research output: Contribution to journal › Journal article › Research › peer-review

Genomisk medicin

Nielsen, Finn Cilius, 2019, In: Ugeskrift for Laeger. 181, 5 p., V01190031.

Research output: Contribution to journal › Journal article › Research › peer-review

Height and body mass index as Modifiers of breast cancer risk in BRCA1/2 mutation carriers: A Mendelian randomization study

GEMO Study Collaborators, HEBON, EMBRACE, G. S. C. H. E., 2019, In: Journal of the National Cancer Institute. 111, 4, p. 350-364 15 p.

Research output: Contribution to journal › Journal article › Research › peer-review

High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer

Bertelsen, B., Tuxen, I. V., Yde, C. W., Gabrielaite, M., Torp, M. H., Kinalis, S., Oestrup, O., Rohrberg, K., Spangaard, I., Santoni Rugiu, Eric, Wadt, Karin Anna Wallentin, Mau-Sorensen, M., Lassen, Ulrik Niels & Nielsen, Finn Cilius, 2019, In: npj Genomic Medicine. 4, 1, 11 p., 13.

Research output: Contribution to journal › Journal article › Research › peer-review

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, K. I., HEBON Investigators, H. I., GEMO Study Collaborators, G. S. C. & EMBRACE Collaborators, E. C., 2019, In: British Journal of Cancer. 121, 2, p. 180-192 13 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Plasma total cell-free DNA is a prognostic biomarker of overall survival in metastatic solid tumour patients

Viller Tuxen, I., Barlebo Ahlborn, L., Mau-Soerensen, M., Staal Rohrberg, K., Nielsen, Finn Cilius, Oestrup, O., Westmose Yde, C., Richter Vogelius, I. & Lassen, Ulrik Niels, 2019, In: British Journal of Cancer. 121, 2, p. 125-130 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Replication of newly proposed TNM staging system for medullary thyroid carcinoma: a nationwide study

Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, Ulla, Schytte, S., Londero, S. C., Pedersen, H. B., Hahn, Christoffer Holst, Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, Finn Cilius, Brixen, K. & Godballe, C., 2019, In: Endocrine Connections. 8, 1, p. 1-7 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

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

Mateu-Regué, À., Christiansen, Jan, Bagger, F. O., Winther, O., Hellriegel, C. & Nielsen, Finn Cilius, 2019, In: Cell Reports. 29, 3, p. 736-748, e1-e4

Research output: Contribution to journal › Journal article › Research › peer-review

Survival and Long-Term Biochemical Cure in Medullary Thyroid Carcinoma in Denmark 1997-2014: A Nationwide Study

Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Stochholm, K., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, Ulla, Schytte, S., Londero, S. C., Pedersen, H. B., Hahn, Christoffer Holst, Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, Finn Cilius, Brixen, K., Frederiksen, A. L. & Godballe, C., 2019, In: Thyroid. 29, 3, p. 368-377

Research output: Contribution to journal › Journal article › Research › peer-review

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

ABCTB Investigators, A. I., GEMO Study Collaborators, G. S. C. & kConFab, K., 2019, In: npj Breast Cancer. 5, 1, 14 p., 38.

Research output: Contribution to journal › Journal article › Research › peer-review

Whole genome sequencing of breast cancer

Rossing, M., Sørensen, Claus Storgaard, Ejlertsen, Bent Laursen & Nielsen, Finn Cilius, 2019, In: APMIS - Journal of Pathology, Microbiology and Immunology. 127, 5, p. 303-315 13 p.

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

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

et al., E. A., 15 Sep 2018, In: Cancer Research. 78, 18, p. 5419-5430 12 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Characterization of basal-like subtype in a Danish consecutive primary breast cancer cohort

Kinalis, S., Nielsen, Finn Cilius, Talman, M. L., Ejlertsen, B. & Rossing, M., 2018, In: Acta Oncologica. 57, 1, p. 51-57

Research output: Contribution to journal › Journal article › Research › peer-review

Circulating tumor DNA as a marker of treatment response in BRAF V600E mutated non-melanoma solid tumors

Ahlborn, L. B., Tuxen, I. V., Mouliere, F., Kinalis, S., Schmidt, A. Y., Rohrberg, K. S., Santoni Rugiu, Eric, Nielsen, Finn Cilius, Lassen, Ulrik Niels, Yde, C. W., Oestrup, O. & Mau-Sorensen, M., 2018, In: OncoTarget. 9, 66, p. 32570-32579

Research output: Contribution to journal › Journal article › Research › peer-review

Deep sequencing of human papillomavirus positive loco-regionally advanced oropharyngeal squamous cell carcinomas reveals novel mutational signature

Grønhøj, C., Jensen, D. H., Agander, T., Kiss, K., Høgdall, Estrid Vilma Solyom, Specht, Lena, Bagger, F. O., Nielsen, Finn Cilius & von Buchwald, Christian, 2018, In: BMC Cancer. 18, 1, p. 1-10 10 p., 640.

Research output: Contribution to journal › Journal article › Research › peer-review

Genomic alterations accompanying tumour evolution in colorectal cancer: tracking the differences between primary tumours and synchronous liver metastases by whole-exome sequencing

Mogensen, M. B., Rossing, M., Østrup, O., Larsen, P. N., Heiberg Engel, P. J., Jørgensen, Lars Nannestad, Høgdall, Estrid Vilma Solyom, Eriksen, J., Ibsen, Per Holger, Jess, P., Grauslund, M., Nielsen, H. J., Nielsen, Finn Cilius, Vainer, B. & Osterlind, K., 2018, In: BMC Cancer. 18, 13 p., 752.

Research output: Contribution to journal › Journal article › Research › peer-review

Importance of comprehensive molecular profiling for clinical outcome in children with recurrent cancer

Østrup, O., Nysom, K., Scheie, David, Schmidt, A. Y., Mathiasen, R., Hjalgrim, L. L., Olsen, T. E., Skjøth-Rasmussen, J., Henriksen, B. M., Nielsen, Finn Cilius, Wehner, P. S., Schrøder, H., Sehested, A. M., Rechnitzer, C. & Rossing, M., 2018, In: Frontiers in Pediatrics. 6, 8 p., 114.

Research output: Contribution to journal › Journal article › Research › peer-review

Incidence and prevalence of multiple endocrine neoplasia 2a in denmark 1901–2014: A nationwide study

Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Stochholm, K., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, Ulla, Schytte, S., Pedersen, H. B., Hahn, Christoffer Holst, Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, Finn Cilius, Brixen, K., Frederiksen, A. L. & Godballe, C., 2018, In: Clinical Epidemiology. 10, p. 1479-1487 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Incidence and prevalence of sporadic and hereditary MTC in Denmark 1960-2014: a nationwide study

Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Stochholm, K., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, U., Schytte, S., Londero, S. C., Pedersen, H. B., Hahn, C. H., Djurhuus, B. D., Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, F. C., Brixen, K., Frederiksen, A. L., Godballe, C. & 1 others, Danish Thyroid Cancer Group (DATHYRCA), D. T. C. G. (., 2018, In: Endocrine Connections. 7, 6, p. 829-839 11 p.

Research output: Contribution to journal › Journal article › Research › peer-review

MicroRNA-based classifiers for diagnosis of oral cavity squamous cell carcinoma in tissue and plasma

Pedersen, N. J., Jensen, D. H., Lelkaitis, G., Kiss, K., Charabi, Birgitte Wittenborg, Ullum, H., Specht, Lena, Schmidt, A. Y., Nielsen, Finn Cilius & von Buchwald, Christian, 2018, In: Oral Oncology. 83, p. 46-52

Research output: Contribution to journal › Journal article › Research › peer-review

Molecular subtyping of breast cancer improves identification of both high and low risk patients

Rossing, M., Østrup, O., Majewski, W. W., Kinalis, S., Jensen, M. B., Knoop, A., Kroman, Niels Thorndahl, Talman, M. L., Hansen, T. V. O., Ejlertsen, B. & Nielsen, Finn Cilius, 2018, In: Acta Oncologica. 57, 1, p. 58-66

Research output: Contribution to journal › Journal article › Research › peer-review

Mutational landscape assessed in tumor tissue and cell-free DNA during neratinib treatment of patients with HER2 mutated solid tumors

Spanggaard, I., Oestrup, O., Bertelsen, B., Rohrberg, K. S., de Schmidt, A. Y., Tuxen, I. V., Ahlborn, L. B., Hasselby, Jane Preuss, Santoni Rugiu, Eric, Marvig, R. L., Lassen, Ulrik Niels, Nielsen, Finn Cilius, Yde, C. W. & Mau-Sørensen, M., 2018, In: European Journal of Cancer. 103, Suppl. 1, p. E142-E143 2 p.

Research output: Contribution to journal › Conference abstract in journal › Research

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

EMBRACE, E., 2018, In: Human Mutation. 39, 5, p. 593-620 28 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Using microarray-based subtyping methods for breast cancer in the era of high-throughput RNA sequencing

Pedersen, C. B., Nielsen, Finn Cilius, Rossing, M. & Olsen, L. R., 2018, In: Molecular Oncology. 12, 12, p. 2136-2146 11 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Correlation between HPV status at T and N sites of oropharyngeal squamous cell carcinomas

Josiassen, M. V., Charabi, Birgitte Wittenborg, Lajer, C. B., Garnaes, E., Hamilton Therkildsen, M., Norrild, B., Specht, Lena, Nielsen, Finn Cilius & von Buchwald, Christian, Dec 2017, In: Acta Oto-Laryngologica. 137, 12, p. 1260-1264 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Founder effect of the RET^C611Y mutation in multiple endocrine neoplasia 2A in Denmark: a nationwide Study

Sloth Mathiesen, J., Kroustrup, J. P., Vestergaard, P., Krag, K. S., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, Ulla, Gaustadnes, M., Ørntoft, T. F., Rossing, M., Nielsen, Finn Cilius, Albrechtsen, Anders, Brixen, K., Godballe, C. & Frederiksen, A. L., Dec 2017, In: Thyroid. 27, 12, p. 1505-1510 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Next-Generation Sequencing-Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a One-Step Diagnostic Workflow

Schmidt, A. Y., Hansen, T. V. O., Ahlborn, L. B., Jønson, L., Yde, C. W. & Nielsen, Finn Cilius, Nov 2017, In: The Journal of molecular diagnostics : JMD. 19, 6, p. 809-816 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia

Leinøe, E., Zetterberg, E., Kinalis, S., Østrup, O., Kampmann, P., Norström, E., Andersson, N., Klintman, J., Qvortrup, Klaus, Nielsen, Finn Cilius & Rossing, M., Oct 2017, In: British Journal of Haematology. 179, 2, p. 308-322 15 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Gene expression profiling in patients with polymyalgia rheumatica before and after symptom-abolishing glucocorticoid treatment

Kreiner, F. F., Borup, R., Nielsen, Finn Cilius, Schjerling, P. & Galbo, Henrik, 7 Aug 2017, In: BMC Musculoskeletal Disorders. 18, 19 p., 341.

Research output: Contribution to journal › Journal article › Research › peer-review

Detection of copy number alterations in cell-free tumor DNA from plasma

Østrup, O., Ahlborn, L. B., Lassen, Ulrik Niels, Mau-Sørensen, M. & Nielsen, Finn Cilius, Jun 2017, In: BBA Clinical. 7, p. 120-126 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Neuronal Fibers and Neurotransmitter Receptor Expression in the Human Endolymphatic Sac

Møller, M. N., Kirkeby, Svend, Vikeså, J., Nielsen, Finn Cilius & Cayé-Thomasen, Per, Jun 2017, In: Otology & Neurotology. 38, 5, p. 765-773 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

The human endolymphatic sac expresses natriuretic peptides

Møller, M. N., Kirkeby, Svend, Vikeså, J., Nielsen, Finn Cilius & Cayé-Thomasen, Per, Jun 2017, In: The Laryngoscope. 127, 6, p. E201-E208

Research output: Contribution to journal › Journal article › Research › peer-review

Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study

Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Stochholm, K., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, Ulla, Gaustadnes, M., Ørntoft, T. F., van Overeem Hansen, T., Nielsen, Finn Cilius, Brixen, K., Godballe, C. & Frederiksen, A. L., Feb 2017, In: Thyroid. 27, 2, p. 215-223 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Continuing rise in oropharyngeal cancer in a high HPV prevalence area: A Danish population-based study from 2011 to 2014

Carlander, A. F., Larsen, C. G., Jensen, D. H., Garnaes, E., Kiss, K., Andersen, L., Olsen, C. H., Franzmann, M., Høgdall, Estrid Vilma Solyom, Kjær, Susanne Krüger, Norrild, B., Specht, Lena, Andersen, E., Hansen, T. V. O., Nielsen, Finn Cilius & von Buchwald, Christian, Jan 2017, In: European Journal of Cancer. 70, p. 75-82

Research output: Contribution to journal › Journal article › Research › peer-review

Gene expression, signal transduction pathways and functional networks associated with growth of sporadic vestibular schwannomas

Sass, H. C. R., Borup, R., Alanin, M., Nielsen, Finn Cilius & Cayé-Thomasen, Per, Jan 2017, In: Journal of Neuro-Oncology. 131, 2, p. 283-292 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Concordance of mutation detection in circulating tumor DNA in early clinical trials using different blood collection protocols

Ahlborn, L. B., Madsen, M., Jonson, L., Nielsen, Finn Cilius, Lassen, Ulrik Niels, Yde, C. W. & Mau-Sorensen, M., 2017, In: Clinical Laboratory. 63, 10, p. 1755-1759

Research output: Contribution to journal › Journal article › Research › peer-review

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

Rossing, M., Albrechtsen, Anders, Skytte, A., Jensen, U. B., Ousager, L. B., Gerdes, Anne-Marie Axø, Nielsen, Finn Cilius & Hansen, T. V. O., 2017, In: Journal of Human Genetics. 62, p. 151-157 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Incidence and prevalence of multiple endocrine neoplasia 2B in Denmark: a nationwide study

Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Madsen, M., Stochholm, K., Poulsen, P. L., Krogh Rasmussen, Å., Feldt-Rasmussen, Ulla, Schytte, S., Pedersen, H. B., Hahn, Christoffer Holst, Bentzen, J., Gaustadnes, M., Ørntoft, T. F., Hansen, T. V. O., Nielsen, Finn Cilius, Brixen, K., Frederiksen, A. L. & Godballe, C., 2017, In: Endocrine - Related Cancer. 24, 7, p. L39-L42

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

MicroRNA Changes in Cerebrospinal Fluid After Subarachnoid Hemorrhage

Bache, S., Rasmussen, R., Rossing, M., Laigaard, F. P., Nielsen, Finn Cilius & Møller, Kirsten, 2017, In: Stroke. 48, 9, p. 2391-2398

Research output: Contribution to journal › Journal article › Research › peer-review

A new NFIA:RAF1 fusion activating the MAPK pathway in pilocytic astrocytoma

Yde, C. W., Sehested, A., Regué, À. M., Østrup, O., Scheie, David, Nysom, K., Nielsen, Finn Cilius & Rossing, M., Oct 2016, In: Cancer genetics and cytogenetics. 209, 10, p. 440-444 5 p.

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

Hereditary breast and ovarian cancer: new genes in confined pathways

Nielsen, Finn Cilius, Hansen, T. V. O. & Sørensen, Claus Storgaard, Sep 2016, In: Nature Reviews. Cancer. 16, 9, p. 599-612 14 p.

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

Progression of motor axon dysfunction and ectopic Na(v)1.8 expression in a mouse model of Charcot-Marie-Tooth disease 1B

Rosberg, M. R., Alvarez Herrero, S., Klein, D., Nielsen, Finn Cilius, Martini, R., Levinson, S. R., Krarup, Christian & Moldovan, Mihai, Sep 2016, In: Neurobiology of Disease. 93, p. 201-214

Research output: Contribution to journal › Journal article › Research › peer-review

Expression of histamine receptors in the human endolymphatic sac: the molecular rationale for betahistine use in Menieres disease

Møller, M. N., Kirkeby, Svend, Vikeså, J., Nielsen, Finn Cilius & Cayé-Thomasen, Per, Jul 2016, In: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery. 273, 7, p. 1705-10 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Gene expression risk signatures maintain prognostic power in multiple myeloma despite microarray probe set translation

Hermansen, N. E. U., Borup, R., Andersen, M. K., Vangsted, Annette Juul, Clausen, T. N., Kristensen, D. L., Nielsen, Finn Cilius & Gimsing, P., Jun 2016, In: International Journal of Laboratory Hematology. 38, 3, p. 298-307 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Hollestelle, A., van der Baan, F. H., Berchuck, A., Johnatty, S. E., Aben, K. K., Agnarsson, B. A., Aittomäki, K., Alducci, E., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Antoniou, A. C., Apicella, C., Arndt, V., Arnold, N., Arun, B. K., Arver, B., Ashworth, A., Baglietto, L., Balleine, R. & 31 others, Bandera, E. V., Barrowdale, D., Bean, Y. T., Beckmann, L., Beckmann, M. W., Benitez, J., Berger, A., Berger, R., Beuselinck, B., Bisogna, M., Bjorge, L., Blomqvist, C., Bogdanova, N. V., Bojesen, A., Bojesen, Stig Egil, Bolla, M. K., Bonanni, B., Brand, J. S., Brauch, H., Brenner, H., Brinton, L., Brooks-Wilson, A., Bruinsma, F., Brunet, J., Gerdes, Anne-Marie Axø, Høgdall, Claus Kim, Høgdall, Estrid Vilma Solyom, Kjær, Susanne Krüger, Nielsen, Finn Cilius, Nordestgaard, Børge & Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, O. C. A. C. B. C. A. C. A. C. O. M. O. B. A. B., May 2016, In: Gynecologic Oncology. 141, 2, p. 386–401

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

The trans fatty acid elaidate affects the global DNA methylation profile of cultured cells and in vivo

Flores-Sierra, J., Arredondo-Guerrero, M., Cervantes-Paz, B., Rodríguez-Ríos, D., Alvarado-Caudillo, Y., Nielsen, Finn Cilius, Wrobel, K., Wrobel, K., Zaina, S. & Lund, G., 12 Apr 2016, In: Lipids in Health and Disease. 15, 7 p., 75.

Research output: Contribution to journal › Journal article › Research › peer-review

Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer

Jønson, L., Ahlborn, L. B., Steffensen, A. Y., Djursby, M., Ejlertsen, B., Timshel, S., Nielsen, Finn Cilius, Gerdes, Anne-Marie Axø & Hansen, T. V. O., Jan 2016, In: Breast Cancer Research and Treatment. 155, 2, p. 215-22 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review