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

    Coignard, J., Lush, M., Beesley, J., O’Mara, T. A., Dennis, J., Tyrer, J. P., Barnes, D. R., McGuffog, L., Leslie, G., Bolla, M. K., Adank, M. A., Agata, S., Ahearn, T., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arnold, N., Aronson, K. J., Arun, B. K., & 370 othersAugustinsson, A., Azzollini, J., Barrowdale, D., Baynes, C., Becher, H., Bermisheva, M., Bernstein, L., Białkowska, K., Blomqvist, C., Bojesen, S. E., Bonanni, B., Borg, A., Brauch, H., Brenner, H., Burwinkel, B., Buys, S. S., Caldés, T., Caligo, M. A., Campa, D., Carter, B. D., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Chung, W. K., Claes, K. B. M., Clarke, C., Bertrand, O., Caputo, S., Dupré, A., Le Mentec, M., Belotti, M., Birot, A. M., Buecher, B., Fourme, E., Gauthier-Villars, M., Golmard, L., Houdayer, C., Moncoutier, V., de Pauw, A., Saule, C., Sinilnikova, O., Mazoyer, S., Damiola, F., Barjhoux, L., Verny-Pierre, C., Léone, M., Boutry-Kryza, N., Calender, A., Giraud, S., Caron, O., Guillaud-Bataille, M., Bressac-de-Paillerets, B., Bignon, Y. J., Uhrhammer, N., Lasset, C., Bonadona, V., Berthet, P., Vaur, D., Castera, L., Noguchi, T., Popovici, C., Sobol, H., Bourdon, V., Noguchi, T., Remenieras, A., Noguès, C., Coupier, I., Pujol, P., Dumont, A., Révillion, F., Adenis, C., Muller, D., Barouk-Simonet, E., Bonnet, F., Bubien, V., Sevenet, N., Longy, M., Toulas, C., Guimbaud, R., Gladieff, L., Feillel, V., Leroux, D., Dreyfus, H., Rebischung, C., Peysselon, M., Coron, F., Faivre, L., Baurand, A., Jacquot, C., Bertolone, G., Lizard, S., Prieur, F., Lebrun, M., Kientz, C., Ferrer, S. F., Mari, V., Vénat-Bouvet, L., Delnatte, C., Bézieau, S., Mortemousque, I., Coulet, F., Colas, C., Soubrier, F., Warcoin, M., Sokolowska, J., Bronner, M., Collonge-Rame, M. A., Damette, A., Gesta, P., Lallaoui, H., Chiesa, J., Molina-Gomes, D., Ingster, O., Gregory, H., Miedzybrodzka, Z., Morrison, P. J., Ong, K. R., Donaldson, A., Rogers, M. T., Kennedy, M. J., Porteous, M. E., Brewer, C., Davidson, R., Izatt, L., Brady, A., Barwell, J., Adlard, J., Foo, C., Lalloo, F., Side, L. E., Eason, J., Henderson, A., Walker, L., Eeles, R. A., Cook, J., Snape, K., Eccles, D. M., Murray, A., McCann, E., Collée, J. M., Conroy, D. M., Czene, K., Daly, M. B., Devilee, P., Diez, O., Ding, Y. C., Domchek, S. M., Dörk, T., dos-Santos-Silva, I., Dunning, A. M., Dwek, M., Eliassen, A. H., Engel, C., Eriksson, M., Evans, D. G., Fasching, P. A., Flyger, H., Fostira, F., Friedman, E., Fritschi, L., Frost, D., Gago-Dominguez, M., Gapstur, S. M., Garber, J., Garcia-Barberan, V., García-Closas, M., García-Sáenz, J. A., Gaudet, M. M., Gayther, S. A., Gehrig, A., Georgoulias, V., Giles, G. G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Greene, M. H., Guénel, P., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hall, P., Hamann, U., Harrington, P. A., Hart, S. N., He, W., Hogervorst, F. B. L., Hollestelle, A., Hopper, J. L., Horcasitas, D. J., Hulick, P. J., Hunter, D. J., Imyanitov, E. N., Fox, S., Campbell, I., Spurdle, A., Webb, P., de Fazio, A., Tassell, M., Kirk, J., Lindeman, G., Price, M., Southey, M., Milne, R. L., Deb, S., Bowtell, D., van der Hout, A. H., van den Ouweland, A. M. W., Mensenkamp, A. R., van Deurzen, C. H. M., Kets, C. M., Seynaeve, C., van Asperen, C. J., Aalfs, C. M., Gómez Garcia, E. B., van Leeuwen, F. E., de Bock, G. H., Meijers-Heijboer, H. E. J., Obdeijn, I. M., Collée, J. M., Gille, J. J. P., Oosterwijk, J. C., Wijnen, J. T., van der Kolk, L. E., Hooning, M. J., Ausems, M. G. E. M., Mourits, M. J. E., Blok, M. J., Rookus, M. A., Adank, M. A., van der Luijt, R. B., van Cronenburg, T. C. T. E. F., van der Pol, C. C., Russell, N. S., Siesling, S., Overbeek, L., Wijnands, R., de Lange, J. L., Clarke, C., Graham, D., Sachchithananthan, M., Marsh, D., Scott, R., Baxter, R., Yip, D., Carpenter, J., Davis, A., Pathmanathan, N., Simpson, P., Jager, A., Jakubowska, A., James, P. A., Jensen, U. B., John, E. M., Jones, M. E., Kaaks, R., Kapoor, P. M., Karlan, B. Y., Keeman, R., Khusnutdinova, E., Kiiski, J. I., Ko, Y. D., Kosma, V. M., Kraft, P., Kurian, A. W., Laitman, Y., Lambrechts, D., Le Marchand, L., Lester, J., Lesueur, F., Lindstrom, T., Lopez-Fernández, A., Loud, J. T., Luccarini, C., Mannermaa, A., Manoukian, S., Margolin, S., Martens, J. W. M., Mebirouk, N., Meindl, A., Miller, A., Montagna, M., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nielsen, F. C., O’Brien, K. M., Olopade, O. I., Olson, J. E., Olsson, H., Osorio, A., Ottini, L., Park-Simon, T. W., Parsons, M. T., Pedersen, I. S., Peshkin, B., Peterlongo, P., Peto, J., Pharoah, P. D. P., Phillips, K. A., Polley, E. C., Poppe, B., Presneau, N., Pujana, M. A., Punie, K., Radice, P., Rantala, J., Rashid, M. U., Rennert, G., Rennert, H. S., Robson, M., Romero, A., Rossing, M., Saloustros, E., Sandler, D. P., Santella, R., Scheuner, M. T., Schmidt, M. K., Schmidt, G., Scott, C., Sharma, P., Soucy, P., Spinelli, J. J., Steinsnyder, Z., Stone, J., Stoppa-Lyonnet, D., Swerdlow, A., Tamimi, R. M., Tapper, W. J., Taylor, J. A., Terry, M. B., Teulé, A., Thull, D. L., Tischkowitz, M., Toland, A. E., Torres, D., Trainer, A. H., Truong, T., Tung, N., Vachon, C. M., Vega, A., Vijai, J., Wang, Q., Wappenschmidt, B., Weinberg, C. R., Weitzel, J. N., Wendt, C., Wolk, A., Yadav, S., Yang, X. R., Yannoukakos, D., Zheng, W., Ziogas, A., Zorn, K. K., Park, S. K., Thomassen, M., Offit, K., Schmutzler, R. K., Couch, F. J., Simard, J., Chenevix-Trench, G., Easton, D. F., Andrieu, N., Antoniou, A. C., GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators & ABCTB Investigators, Feb 2021, In: Nature Communications. 12, 1, 22 p., 1078.

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  • A Danish nationwide questionnaire study of hepatitis B virus screening before immunosuppressive therapy

    Bunyoz, K. I., Krarup, H. & Weis, N., 2017, In: Danish Medical Journal. 64, 3, 4 p., A5341.

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  • A family-based study to identify genetic biomarkers of fibromyalgia: consideration of patients' subgroups

    Gerra, M. C., González-Villar, A., Arendt-Nielsen, L., Søkilde Pedersen, I., Triñanes, Y., Donnini, C., Manfredini, M., Walther, D., Moeller, G. L., Pidal-Miranda, M., Romero-Yuste, S., Arias-Gómez, M. & Carrillo-de-la-Peña, M. T., 24 Jun 2021, In: Clinical and Experimental Rheumatology. 39, Suppl 130(3), p. 144-152 9 p.

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  • A Lactobacilli diet that confers MRSA resistance causes amino acid depletion and increased antioxidant levels in the C. elegans host

    Møller, K. V., Nguyen, H. T. T., Mørch, M. G. M., Hesselager, M. O., Mulder, F. A. A., Fuursted, K. & Olsen, A., 28 Jul 2022, In: Frontiers in Microbiology. 13, 15 p., 886206.

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  • Analysis of Hepatitis B Virus Genotype D in Greenland Suggests the Presence of a Novel Quasi-Subgenotype

    de Bernardi Schneider, A., Osiowy, C., Hostager, R., Krarup, H., Børresen, M., Tanaka, Y., Morriseau, T. & Wertheim, J. O., 2021, In: Frontiers in Microbiology. 11, 9 p., 602296.

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  • A RT-qPCR system using a degenerate probe for specific identification and differentiation of SARS-CoV-2 Omicron (B.1.1.529) variants of concern

    Jessen, R., Nielsen, L., Larsen, N. B., Cohen, A. S., Gunalan, V., Marving, E., Alfaro-Núñez, A., Polacek, C., Fomsgaard, A., Spiess, K., The Danish COVID-19 Genome Consortium (DCGC), Andersen, K. S., Andersen, M. H., Berg, A., Bielidt, S. R., Dall, S. M., Dvarionaite, E., Hansen, S. H., Jørgensen, V. R., Kirkegaard, R. H., & 12 othersSaei, W., Nicolajsen, T. B., Østergaard, S. K., Brøndum, R. F., Bøgsted, M., Hose, K., Sagi, T., Pakanec, M., Fuglsang-Damgaard, D., Mølvadgaard, M., Krarup, H. & Nielsen, M. T. K., Oct 2022, In: PLOS ONE. 17, 10, 12 p., e0274889.

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  • Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

    Hamdi, Y., Soucy, P., Kuchenbaeker, K. B., Pastinen, T., Droit, A., Lemaçon, A., Adlard, J., Aittomäki, K., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Azzollini, J., Bane, A., Barjhoux, L., Barrowdale, D., Benitez, J., Berthet, P., Blok, M. J., Bobolis, K., & 31 othersBonadona, V., Bonanni, B., Bradbury, A. R., Brewer, C., Buecher, B., Buys, S. S., Caligo, M. A., Chiquette, J., Chung, W. K., Claes, K. B. M., Daly, M. B., Damiola, F., Davidson, R., De la Hoya, M., De Leeneer, K., Diez, O., Ding, Y. C., Dolcetti, R., Domchek, S. M., Dorfling, C. M., Eccles, D., Eeles, R., Einbeigi, Z., Ejlertsen, B., Engel, C., Gareth Evans, D., Feliubadalo, L., Foretova, L., Fostira, F., Pedersen, I. S. & EMBRACE, 2017, In: Breast Cancer Research and Treatment. 161, 1, p. 117-134 18 p.

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  • 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 othersBarkardottir, 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.

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  • Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

    Muranen, T. A., Khan, S., Fagerholm, R., Aittomäki, K., Cunningham, J. M., Dennis, J., Leslie, G., McGuffog, L., Parsons, M. T., Simard, J., Slager, S., Soucy, P., Easton, D. F., Tischkowitz, M., Spurdle, A. B., kConFab Investigators, Schmutzler, R. K., Wappenschmidt, B., Hahnen, E., Hooning, M. J., & 24 othersHEBON Investigators, Singer, C. F., Wagner, G., Thomassen, M., Pedersen, I. S., Domchek, S. M., Nathanson, K. L., Lazaro, C., Rossing, C. M., Andrulis, I. L., Teixeira, M. R., James, P., Garber, J., Weitzel, J. N., SWE-BRCA Investigators, Jakubowska, A., Yannoukakos, D., John, E. M., Southey, M. C., Schmidt, M. K., Antoniou, A. C., Chenevix-Trench, G., Blomqvist, C. & Nevanlinna, H., 1 Dec 2020, In: npj Breast Cancer. 6, 1, 44.

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  • Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

    Barnes, D. R., Silvestri, V., Leslie, G., McGuffog, L., Dennis, J., Yang, X., Adlard, J., Agnarsson, B. A., Ahmed, M., Aittomäki, K., Andrulis, I. L., Arason, A., Arnold, N., Auber, B., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barrowdale, D., Barwell, J., Belotti, M., & 145 othersBenitez, J., Berthet, P., Boonen, S. E., Borg, Å., Bozsik, A., Brady, A. F., Brennan, P., Brewer, C., Brunet, J., Bucalo, A., Buys, S. S., Caldés, T., Caligo, M. A., Campbell, I., Cassingham, H., Christensen, L. L., Cini, G., Claes, K. B. M., Cook, J., Coppa, A., Cortesi, L., Damante, G., Darder, E., Davidson, R., de la Hoya, M., De Leeneer, K., de Putter, R., Del Valle, J., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Eeles, R., Engel, C., Evans, D. G., Feliubadaló, L., Fostira, F., Frone, M., Frost, D., Gallagher, D., Gehrig, A., Giraud, S., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gregory, H., Gross, E., Hahnen, E., Hamann, U., Hansen, T. V. O., Hanson, H., Hentschel, J., Horvath, J., Izatt, L., Izquierdo, A., James, P. A., Janavicius, R., Jensen, U. B., Johannsson, O. T., John, E. M., Kramer, G., Kroeldrup, L., Kruse, T. A., Lautrup, C., Lazaro, C., Lesueur, F., Lopez-Fernández, A., Mai, P. L., Manoukian, S., Matrai, Z., Matricardi, L., Maxwell, K. N., Mebirouk, N., Meindl, A., Montagna, M., Monteiro, A. N., Morrison, P. J., Muranen, T. A., Murray, A., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nguyen-Dumont, T., Niederacher, D., Olah, E., Olopade, O. I., Palli, D., Parsons, M. T., Pedersen, I. S., Peissel, B., Perez-Segura, P., Peterlongo, P., Petersen, A. H., Pinto, P., Porteous, M. E., Pottinger, C., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Robson, M., Rogers, M. T., Rønlund, K., Rump, A., Sánchez de Abajo, A. M., Shah, P. D., Sharif, S., Side, L. E., Singer, C. F., Stadler, Z., Steele, L., Stoppa-Lyonnet, D., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teulé, A., Thull, D. L., Tischkowitz, M., Toland, A. E., Tommasi, S., Toss, A., Trainer, A. H., Tripathi, V., Valentini, V., van Asperen, C. J., Venturelli, M., Viel, A., Vijai, J., Walker, L., Wang-Gohrke, S., Wappenschmidt, B., Whaite, A., Zanna, I., Offit, K., Thomassen, M., Couch, F. J., Schmutzler, R. K., Simard, J., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C., Ottini, L. & GEMO Study Collaborators, 11 Jan 2022, In: Journal of the National Cancer Institute. 114, 1, p. 109-122 14 p.

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  • Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

    Li, S., Silvestri, V., Leslie, G., Rebbeck, T. R., Neuhausen, S. L., Hopper, J. L., Nielsen, H. R., Lee, A., Yang, X., McGuffog, L., Parsons, M. T., Andrulis, I. L., Arnold, N., Belotti, M., Borg, Å., Buecher, B., Buys, S. S., Caputo, S. M., Chung, W. K., Colas, C., & 82 othersColonna, S. V., Cook, J., Daly, M. B., de la Hoya, M., de Pauw, A., Delhomelle, H., Eason, J., Engel, C., Evans, D. G., Faust, U., Fehm, T. N., Fostira, F., Fountzilas, G., Frone, M., Garcia-Barberan, V., Garre, P., Gauthier-Villars, M., Gehrig, A., Glendon, G., Goldgar, D. E., Golmard, L., Greene, M. H., Hahnen, E., Hamann, U., Hanson, H., Hassan, T., Hentschel, J., Horvath, J., Izatt, L., Janavicius, R., Jiao, Y., John, E. M., Karlan, B. Y., Kim, S-W., Konstantopoulou, I., Kwong, A., Laugé, A., Lee, J. W., Lesueur, F., Mebirouk, N., Meindl, A., Mouret-Fourme, E., Musgrave, H., Ngeow Yuen Yie, J., Niederacher, D., Park, S. K., Pedersen, I. S., Ramser, J., Ramus, S. J., Rantala, J., Rashid, M. U., Reichl, F., Ritter, J., Rump, A., Santamariña, M., Saule, C., Schmidt, G., Schmutzler, R. K., Senter, L., Shariff, S., Singer, C. F., Southey, M. C., Stoppa-Lyonnet, D., Sutter, C., Tan, Y., Teo, S. H., Terry, M. B., Thomassen, M., Tischkowitz, M., Toland, A. E., Torres, D., Vega, A., Wagner, S. A., Wang-Gohrke, S., Wappenschmidt, B., Weber, B. H. F., Yannoukakos, D., Spurdle, A. B., Easton, D. F., Chenevix-Trench, G., Ottini, L. & Antoniou, A. C., 10 May 2022, In: Journal of Clinical Oncology. 40, 14, p. 1529-1541 13 p.

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  • Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

    Dominguez-Valentin, M., Sampson, J. R., Seppälä, T. T., Ten Broeke, S. W., Plazzer, J-P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos Tot Nederveen Cappel, W. H., Sijmons, R. H., & 68 othersBertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Köstner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Büttner, R., Görgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Hüneburg, R., Knebel Doeberitz, M. V., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvänäinen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Wadt, K., Therkildsen, C., Okkels, H., Ketabi, Z., Moreira, L., Sánchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Frayling, I. M., Rødland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Möslein, G., Mecklin, J-P., Nielsen, M. & Møller, P., Jan 2020, In: Genetics in Medicine. 22, 1, p. 15-25 11 p.

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  • Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing

    Toft, C. L. F., Ingerslev, H. J., Kesmodel, U. S., Hatt, L., Singh, R., Ravn, K., Nicolaisen, B. H., Christensen, I. B., Kølvraa, M., Jeppesen, L. D., Schelde, P., Vogel, I., Uldbjerg, N., Farlie, R., Sommer, S., Østergård, M. L. V., Jensen, A. N., Mogensen, H., Kjartansdóttir, K. R., Degn, B., & 3 othersOkkels, H., Ernst, A. & Pedersen, I. S., Aug 2021, In: Journal of Assisted Reproduction and Genetics. 38, 8, p. 1959-1970 12 p.

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  • Cell-free DNA promoter hypermethylation as a diagnostic marker for pancreatic ductal adenocarcinoma – An external validation study

    Henriksen, S. D., Stubbe, B. E., Madsen, P. H., Johansen, J. S., Jensen, B. V., Hansen, C. P., Johansen, M. N., Pedersen, I. S., Krarup, H. & Thorlacius-Ussing, O., Sept 2021, In: Pancreatology. 21, 6, p. 1081-1091 11 p.

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  • Cell-free DNA promoter hypermethylation in plasma as a predictive marker for survival of patients with pancreatic adenocarcinoma

    Henriksen, S. D., Madsen, P. H., Larsen, A. C., Berg Johansen, M., Pedersen, I. S., Krarup, H. & Thorlacius-Ussing, O., 2017, In: OncoTarget. 8, 55, p. 93942-93956 15 p.

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  • Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

    Silvestri, V., Leslie, G., Barnes, D. R., and the CIMBA Group & Pedersen, I. S., 1 Aug 2020, In: JAMA Oncology. 6, 8, p. 1218-1230 13 p.

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  • Chromium sequencing: the doors open for genomics of obligate plant pathogens

    McTaggart, A. R., Duong, T. A., Le, V. Q., Shuey, L. S., Smidt, W., Naidoo, S., Wingfield, M. J. & Wingfield, B. D., 1 Nov 2018, In: BioTechniques. 65, 5, p. 253-257 5 p.

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  • Chronic Postoperative Pain After Hysterectomy for Endometrial Cancer: A Metabolic Profiling Study

    Lunde, S., Nguyen, H. T., Petersen, K. K., Arendt-Nielsen, L., Krarup, H. B. & Søgaard-Andersen, E., 8 May 2020, In: Molecular Pain. 16, 7 p.

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  • Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants: application of a points-based ACMG/AMP approach

    Thomassen, M., Mesman, R. L. S., Hansen, T. V. O., Menendez, M., Rossing, M., Esteban-Sánchez, A., Tudini, E., Törngren, T., Parsons, M. T., Pedersen, I. S., Teo, S. H., Kruse, T. A., Møller, P., Borg, Å., Jensen, U. B., Christensen, L. L., Singer, C. F., Muhr, D., Santamarina, M., Brandao, R., & 30 othersAndresen, B. S., Feng, B-J., Canson, D., Richardson, M. E., Karam, R., Pesaran, T., LaDuca, H., Conner, B. R., Abualkheir, N., Hoang, L., Calléja, F. M. G. R., Andrews, L., James, P. A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D. E., Walker, L. C., Engel, C., Claes, K. B. M., Macháčková, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., ENIGMA consortium, Vreeswijk, M. P. G., de la Hoya, M. & Spurdle, A. B., Dec 2022, In: Human Mutation. 43, 12, p. 1921-1944 24 p.

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  • Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls

    Jeppesen, L. D., Hatt, L., Singh, R., Schelde, P., Ravn, K., Toft, C. L., Laursen, M. B., Hedegaard, J., Christensen, I. B., Nicolaisen, B. H., Andreasen, L., Pedersen, L. H., Vogel, I. & Lildballe, D. L., 27 Sept 2023, In: Frontiers in Genetics. 14, 1188472.

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  • Clinical outcomes of female breast cancer according to BRCA mutation status

    Cronin-Fenton, D. P., Kjærsgaard, A., Nørgaard, M., Pedersen, I. S., Thomassen, M., Kaye, J. A., Gutierrez, L., Telford, C., Lewis, J., Tyczynski, J. E. & Sørensen, H. T., 2017, In: Cancer Epidemiology. 49, p. 128-137 10 p.

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  • Colorectal cancer detected by liquid biopsy 2 years prior to clinical diagnosis in the HUNT study

    Brenne, S. S., Madsen, P. H., Pedersen, I. S., Hveem, K., Skorpen, F., Krarup, H. B., Giskeødegård, G. F. & Laugsand, E. A., 21 Sept 2023, In: British Journal of Cancer. 129, 5, p. 861–868 8 p.

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  • Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

    Møller, P., Seppälä, T., Dowty, J. G., Haupt, S., Dominguez-Valentin, M., Sunde, L., Bernstein, I., Engel, C., Aretz, S., Nielsen, M., Capella, G., Evans, D. G., Burn, J., Holinski-Feder, E., Bertario, L., Bonanni, B., Lindblom, A., Levi, Z., Macrae, F., Winship, I., & 138 othersPlazzer, J-P., Sijmons, R., Laghi, L., Valle, A. D., Heinimann, K., Half, E., Lopez-Koestner, F., Alvarez-Valenzuela, K., Scott, R. J., Katz, L., Laish, I., Vainer, E., Vaccaro, C. A., Carraro, D. M., Gluck, N., Abu-Freha, N., Stakelum, A., Kennelly, R., Winter, D., Rossi, B. M., Greenblatt, M., Bohorquez, M., Sheth, H., Tibiletti, M. G., Lino-Silva, L. S., Horisberger, K., Portenkirchner, C., Nascimento, I., Rossi, N. T., da Silva, L. A., Thomas, H., Zaránd, A., Mecklin, J-P., Pylvänäinen, K., Renkonen-Sinisalo, L., Lepisto, A., Peltomäki, P., Therkildsen, C., Lindberg, L. J., Thorlacius-Ussing, O., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Steinke-Lange, V., Schmiegel, W., Vangala, D., Perne, C., Hüneburg, R., de Vargas, A. F., Latchford, A., Gerdes, A-M., Backman, A-S., Guillén-Ponce, C., Snyder, C., Lautrup, C. K., Amor, D., Palmero, E., Stoffel, E., Duijkers, F., Hall, M. J., Hampel, H., Williams, H., Okkels, H., Lubiński, J., Reece, J., Ngeow, J., Guillem, J. G., Arnold, J., Wadt, K., Monahan, K., Senter, L., Rasmussen, L. J., van Hest, L. P., Ricciardiello, L., Kohonen-Corish, M. R. J., Ligtenberg, M. J. L., Southey, M., Aronson, M., Zahary, M. N., Samadder, N. J., Poplawski, N., Hoogerbrugge, N., Morrison, P. J., James, P., Lee, G., Chen-Shtoyerman, R., Ankathil, R., Pai, R., Ward, R., Parry, S., Dębniak, T., John, T., van Overeem Hansen, T., Caldés, T., Yamaguchi, T., Barca-Tierno, V., Garre, P., Cavestro, G. M., Weitz, J., Redler, S., Büttner, R., Heuveline, V., Hopper, J. L., Win, A. K., Lindor, N., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J., Buchanan, D. D., Thibodeau, S. N., Ten Broeke, S. W., Hovig, E., Nakken, S., Pineda, M., Dueñas, N., Brunet, J., Green, K., Lalloo, F., Newton, K., Crosbie, E. J., Mints, M., Tjandra, D., Neffa, F., Esperon, P., Kariv, R., Rosner, G., Pavicic, W. H., Kalfayan, P., Torrezan, G. T., Bassaneze, T., Martin, C., Moslein, G., Ahadova, A., Kloor, M., Sampson, J. R., Jenkins, M. A. & European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC), 1 Oct 2022, In: Hereditary Cancer in Clinical Practice. 20, 1, 36.

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  • Common genetic variants are associated with lower serum 25-hydroxyvitamin D concentrations across the year among children at northern latitudes

    Petersen, R. A., Larsen, L. H., Damsgaard, C. T., Sørensen, L. B., Hjorth, M. F., Andersen, R., Tetens, I., Krarup, H., Ritz, C., Astrup, A., Michaelsen, K. F. & Mølgaard, C., 2017, In: British Journal of Nutrition. 117, 6, p. 829-838 10 p.

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  • Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    Hakkaart, C., Pearson, J. F., Marquart, L., Dennis, J., Wiggins, G. A. R., Barnes, D. R., Robinson, B. A., Mace, P. D., Aittomäki, K., Andrulis, I. L., Arun, B. K., Azzollini, J., Balmaña, J., Barkardottir, R. B., Belhadj, S., Berger, L., Blok, M. J., Boonen, S. E., Borde, J., Bradbury, A. R., & 142 othersBrunet, J., Buys, S. S., Caligo, M. A., Campbell, I., Chung, W. K., Claes, K. B. M., Collonge-Rame, M-A., Cook, J., Cosgrove, C., Couch, F. J., Daly, M. B., Dandiker, S., Davidson, R., de la Hoya, M., de Putter, R., Delnatte, C., Dhawan, M., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Easton, D. F., Ehrencrona, H., Engel, C., Evans, D. G., Faust, U., Feliubadaló, L., Fostira, F., Friedman, E., Frone, M., Frost, D., Garber, J., Gayther, S. A., Gehrig, A., Gesta, P., Godwin, A. K., Goldgar, D. E., Greene, M. H., Hahnen, E., Hake, C. R., Hamann, U., Hansen, T. V. O., Hauke, J., Hentschel, J., Herold, N., Honisch, E., Hulick, P. J., Imyanitov, E. N., Isaacs, C., Izatt, L., Izquierdo, A., Jakubowska, A., James, P. A., Janavicius, R., John, E. M., Joseph, V., Karlan, B. Y., Kemp, Z., Kirk, J., Konstantopoulou, I., Koudijs, M., Kwong, A., Laitman, Y., Lalloo, F., Lasset, C., Lautrup, C., Lazaro, C., Legrand, C., Leslie, G., Lesueur, F., Mai, P. L., Manoukian, S., Mari, V., Martens, J. W. M., McGuffog, L., Mebirouk, N., Meindl, A., Miller, A., Montagna, M., Moserle, L., Mouret-Fourme, E., Musgrave, H., Nambot, S., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Yie, J. N. Y., Nguyen-Dumont, T., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Osorio, A., Ott, C-E., Park, S. K., Parsons, M. T., Pedersen, I. S., Peixoto, A., Perez-Segura, P., Peterlongo, P., Pocza, T., Radice, P., Ramser, J., Rantala, J., Rodriguez, G. C., Rønlund, K., Rosenberg, E. H., Rossing, M., Schmutzler, R. K., Shah, P. D., Sharif, S., Sharma, P., Side, L. E., Simard, J., Singer, C. F., Snape, K., Steinemann, D., Stoppa-Lyonnet, D., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Thomassen, M., Thull, D. L., Tischkowitz, M., Toland, A. E., Trainer, A. H., Tripathi, V., Tung, N., van Engelen, K., van Rensburg, E. J., Vega, A., Viel, A., Walker, L., Weitzel, J. N., Wevers, M. R., Chenevix-Trench, G., Spurdle, A. B., Antoniou, A. C., Walker, L. C. & GEMO Study Collaborators, 6 Oct 2022, In: Communications Biology. 5, 1, p. 1061 15 p., 1061.

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  • De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome

    Lundsgaard, M., Le, V. Q., Ernst, A., Laugaard-Jacobsen, H. C., Rasmussen, K., Pedersen, I. S. & Petersen, M. B., 2017, In: Molecular Syndromology. 8, 1, p. 24-29 6 p.

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  • 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., 1 Sept 2019, In: Genetic Testing and Molecular Biomarkers. 23, 9, p. 688-695 8 p.

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  • Determination of anti-HCV and quantification of HCV-RNA and IP-10 from dried blood spots sent by regular mail

    Neesgaard, B., Ruhwald, M., Krarup, H. B. & Weis, N., 2018, In: PLOS ONE. 13, 7, 13 p., e0201629.

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  • Development of a Precision Medicine Workflow in Hematological Cancers, Aalborg University Hospital, Denmark

    Bødker, J. S., Sønderkær, M., Vesteghem, C., Schmitz, A., Brøndum, R. F., Sommer, M., Rytter, A. S., Nielsen, M. M., Madsen, J., Jensen, P., Pedersen, I. S., Grubach, L., Severinsen, M. T., Roug, A. S., El-Galaly, T. C., Dybkær, K. & Bøgsted, M., Feb 2020, In: Cancers. 12, 2, 23 p., 312.

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  • Diagnostik af hepatitis C

    Translated title of the contribution: Diagnostics of hepatitis CKrarup, H. B., 15 Nov 2021, In: Ugeskrift for Laeger. 183, 22, p. 2146-2148 3 p., V05210420.

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  • Differential effect of surgical manipulation on gene expression in normal breast tissue and breast tumor tissue

    Pedersen, I. S., Thomassen, M., Tan, Q., Kruse, T., Thorlacius-Ussing, O., Garne, J. P. & Krarup, H. B., 16 Nov 2018, In: Molecular Medicine. 24, 1, p. 1-8 8 p., 57.

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  • Direct acting antiviral treatment of chronic hepatitis C in Denmark: factors associated with and barriers to treatment initiation

    Sølund, C., Hallager, S., Pedersen, M. S., Fahnøe, U., Ernst, A., Krarup, H. B., Røge, B. T., Christensen, P. B., Laursen, A. L., Gerstoft, J., Bélard, E., Madsen, L. G., Schønning, K., Pedersen, A. G., Bukh, J., Weis, N., DANHEP group, Krarup, H., Hansen, J. B. & Mygind, L., 2018, In: Scandinavian Journal of Gastroenterology. 53, 7, p. 849-856 8 p.

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  • Discriminatory rapid tests cause HIV-type misclassification-evaluation of three rapid tests using clinical samples from Guinea-Bissau

    Hønge, B. L., Jespersen, S., Medina, C., Té, D. D. S., da Silva, Z. J., Christiansen, M., Kjerulff, B., Laursen, A. L., Wejse, C., Krarup, H., Erikstrup, C. & Bissau HIV Cohort study group, Sept 2019, In: Transactions of the Royal Society of Tropical Medicine and Hygiene. 113, 9, p. 555-559 5 p.

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  • DNA methylation changes in fibromyalgia suggest the role of the immune‐inflammatory response and central sensitization

    Gerra, M. C., Carnevali, D., Ossola, P., González‐villar, A., Pedersen, I. S., Triñanes, Y., Donnini, C., Manfredini, M., Arendt‐nielsen, L. & Carrillo‐de‐la‐peña, M. T., 1 Nov 2021, In: Journal of Clinical Medicine . 10, 21, 15 p., 4992.

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  • DNA methylation changes in genes involved in inflammation and depression in fibromyalgia: A pilot study

    Gerra, M. C., Carnevali, D., Pedersen, I. S., Donnini, C., Manfredini, M., González-Villar, A., Triñanes, Y., Pidal-Miranda, M., Arendt-Nielsen, L. & Carrillo-De-La-Peña, M. T., Feb 2021, In: Scandinavian Journal of Pain. 21, 2, p. 372-383 12 p.

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  • Dysfibrinogenemia-Potential Impact of Genotype on Thrombosis or Bleeding

    Bor, M. V., Feddersen, S., Pedersen, I. S., Sidelmann, J. J. & Kristensen, S. R., 2022, In: Seminars in Thrombosis and Hemostasis. 48, 2, p. 161-173 13 p.

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  • Early laboratory diagnosis of COVID-19 by antigen detection in blood samples of the SARS-COV-2 nucleocapsid protein

    Thudium, R. F., Stoico, M. P., Høgdall, E., Høgh, J., Krarup, H. B., Larsen, M. A. H., Madsen, P. H., Nielsen, S. D., Ostrowski, S. R., Palombini, A., Rasmussen, D. B. & Foged, N. T., 20 Sept 2021, In: Journal of Clinical Microbiology. 59, 10, 35 p., e01001-21.

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  • Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease

    Zheng, W-Q., Pedersen, S. V., Thompson, K., Bellacchio, E., French, C. E., Munro, B., Pearson, T. S., Vogt, J., Diodato, D., Diemer, T., Ernst, A., Horvath, R., Chitre, M., Ek, J., Wibrand, F., Grange, D. K., Raymond, L., Zhou, X-L., Taylor, R. W. & Ostergaard, E., 15 Feb 2022, In: Human Molecular Genetics. 31, 4, p. 523-534 12 p.

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  • Epigenetic Regulation of Ferroportin in Primary Cultures of the Rat Blood-Brain Barrier

    Helgudottir, S. S., Routhe, L. J., Burkhart, A., Jønsson, K., Pedersen, I. S., Lichota, J. & Moos, T., Aug 2020, In: Molecular Neurobiology. 57, 8, p. 3526-3539 14 p.

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  • Evolutionary Pathways to Persistence of Highly Fit and Resistant Hepatitis C Virus Protease Inhibitor Escape Variants

    Jensen, S. B., Fahnøe, U., Pham, L. V., Serre, S., Tang, Q., Ghanem, L., Pedersen, M. S., Ramirez, S., Humes, D., Pihl, A. F., Filskov, J., Sølund, C. S., Dietz, J., Fourati, S., Pawlotsky, J-M., Sarrazin, C., Weis, N., Schønning, K., Krarup, H., Bukh, J., & 1 othersGottwein, J. M., Sept 2019, In: Hepatology. 70, 3, p. 771-787 17 p.

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  • Exploring D-lactate as a biomarker for acute intestinal necrosis in 2958 patients: a prospective cross-sectional study

    Straarup, D., Gotschalck, K. A., Christensen, P. A., Rasmussen, R. W., Krarup, H., Lundbye-Christensen, S., Handberg, A. & Thorlacius-Ussing, O., 19 Jan 2024, (E-pub ahead of print) In: The Journal of Emergency Medicine.

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  • Exploring I-FABP, endothelin-1 and L-lactate as biomarkers of acute intestinal necrosis: a case-control study

    Straarup, D., Gotschalck, K. A., Christensen, P. A., Krarup, H., Lundbye-Christensen, S., Handberg, A. & Thorlacius-Ussing, O., 2023, In: Scandinavian Journal of Gastroenterology. 58, 12, p. 1359-1365 7 p.

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  • Extraction of Cell-Free DNA: Evaluation of Efficiency, Quantity, and Quality

    Terp, S. K., Pedersen, I. S. & Stoico, M. P., Apr 2024, In: The Journal of Molecular Diagnostics. 26, 4, p. 310-319 10 p.

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  • 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., Moradi Marjaneh, M., Jiang, X., Agata, S., Aittomäki, K., Alonso, M. R., & 277 othersAndrulis, 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, S. E., Bolla, M. K., Bonanni, B., Borg, A., Bosse, K., Brauch, H., Brenner, H., Briceno, I., Brock, I. W., Brooks-Wilson, A., Brüning, T., Burwinkel, B., Buys, S. S., Cai, Q., Caldés, T., Caligo, M. A., Camp, N. J., Campbell, I., Canzian, F., Carroll, J. S., Carter, B. D., Castelao, J. E., Chiquette, J., Christiansen, H., Chung, W. K., Claes, K. B. M., Clarke, C., Mari, V., Berthet, P., Castera, L., Vaur, D., Lallaoui, H., Bignon, Y-J., Uhrhammer, N., Bonadona, V., Lasset, C., Révillion, F., Vennin, P., Muller, D., Gomes, D. M., Ingster, O., Coupier, I., Pujol, P., Collonge-Rame, M-A., Mortemousque, I., Bera, O., Rose, M., Baurand, A., Bertolone, G., Faivre, L., Dreyfus, H., Leroux, D., Venat-Bouvet, L., Bézieau, S., Delnatte, C., Chiesa, J., Gilbert-Dussardier, B., Gesta, P., Prieur, F. P., Bronner, M., Sokolowska, J., Coulet, F., Boutry-Kryza, N., Calender, A., Giraud, S., Leone, M., Fert-Ferrer, S., Stoppa-Lyonnet, D., Jiao, Y., Lesueur, F. L., Mebirouk, N., Barouk-Simonet, E., Bubien, V., Longy, M., Sevenet, N., Gladieff, L., Toulas, C., Reimineras, A., Sobol, H., Paillerets, B. B., Cabaret, O., Caron, O., Guillaud-Bataille, M., Rouleau, E., Belotti, M., Buecher, B., Caputo, S., Colas, C., Pauw, A. D., Fourme, E., Gauthier-Villars, M., Golmard, L., Moncoutier, V., Saule, C., Donaldson, A., Murray, A., Brady, A., Brewer, C., Pottinger, C., Miller, C., Gallagher, D., Gregory, H., Cook, J., Eason, J., Adlard, J., Barwell, J., Ong, K-R., Snape, K., Walker, L., Izatt, L., Side, L., Tischkowitz, M., Rogers, M. T., Porteous, M. E., Ahmed, M., Morrison, P. J., Brennan, P., Eeles, R., Davidson, R., Collée, J. M., Cornelissen, S., Couch, F. J., Cox, A., Cross, S. S., Cybulski, C., Czene, K., Daly, M. B., de la Hoya, M., Devilee, P., Diez, O., Ding, Y. C., Dite, G. S., Domchek, S. M., Dörk, T., dos-Santos-Silva, I., Droit, A., Dubois, S., Dumont, M., Duran, M., Durcan, L., Dwek, M., Eccles, D. M., Engel, C., Eriksson, M., Evans, D. G., Fasching, P. A., Fletcher, O., Floris, G., Flyger, H., Foretova, L., Foulkes, W. D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gago-Dominguez, M., Gambino, G., Ganz, P. A., Gapstur, S. M., Garber, J., García-Sáenz, J. A., Gaudet, M. M., Georgoulias, V., Giles, G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Tibiletti, M. G., Greene, M. H., Grip, M., Gronwald, J., Grundy, A., Guénel, P., Hahnen, E., Haiman, C. A., Håkansson, N., Hall, P., Hamann, U., Harrington, P. A., Hartikainen, J. M., Hartman, M., He, W., Healey, C. S., Heemskerk-Gerritsen, B. A. M., Heyworth, J., Hillemanns, P., Hogervorst, F. B. L., Hollestelle, A., Hooning, M. J., Hopper, J. L., Howell, A., Huang, G., Hulick, P. J., Imyanitov, E. N., Sexton, A., Christian, A., Trainer, A., Spigelman, A., Fellows, A., Shelling, A., Fazio, A. D., Blackburn, A., Crook, A., Meiser, B., Patterson, B., Clarke, C., Saunders, C., Hunt, C., Scott, C., Amor, D., Marsh, D., Edkins, E., Salisbury, E., Haan, E., Neidermayr, E., Macrea, F., Farshid, G., Lindeman, G., Trench, G., Mann, G., Giles, G., Gill, G., Thorne, H., Hickie, I., Winship, I., Flanagan, J., Kollias, J., Visvader, J., Stone, J., Taylor, J., Burke, J., Saunus, J., Forbes, J., Hopper, J., Kirk, J., French, J., Tucker, K., Wu, K., Phillips, K., Lipton, L., Andrews, L., Lobb, L., Walker, L., Kentwell, M., Spurdle, M., Cummings, M., Gleeson, M., Harris, M., Jenkins, M., Young, M. A., Delatycki, M., Wallis, M., Pedersen, I. S. & Dunning, A. M., 7 Jan 2020, In: Nature Genetics. 52, 1, p. 56-73 18 p.

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  • First reported adult patient with TARP syndrome: A case report

    Højland, A. T., Lolas, I., Okkels, H., Lautrup, C. K., Diness, B. R., Petersen, M. B. & Nielsen, I. K., Dec 2018, In: American Journal of Medical Genetics. Part A. 176, 12, p. 2915-2918 4 p.

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  • First reported CABP2-related non-syndromic hearing loss in Northern Europe

    Sheyanth, I. N., Højland, A. T., Okkels, H., Lolas, I., Thorup, C. & Petersen, M. B., Apr 2021, In: Molecular Genetics and Genomic Medicine. 9, 4, 5 p., e1639.

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  • First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia

    Sheyanth, I. N., Lolas, I. B., Okkels, H., Kiruparajan, L. P., Abildgaard, S. K. & Petersen, M. B., Apr 2021, In: Molecular Genetics & Genomic Medicine. 9, 4, e1652.

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