Inge Søkilde Pedersen

A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing

Thomassen, M., Pedersen, I. S., Vogel, I., Hansen, T. V. O., Brasch-Andersen, C., Brasen, C. L., Crüger, D., Sunde, L., Nielsen, F. C., Jensen, U. B., Bisgaard, M. L., Borg, Å., Gerdes, A-M. & Kruse, T. A., Jul 2011, In: Breast Cancer Research and Treatment. 128, p. 179-85 6 p.

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4 Citations (Scopus)

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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17 Citations (Scopus)

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A Danish national effort of BRCA1/2 variant classification

Pedersen, I. S., Schmidt, A. Y., Bertelsen, B., Ernst, A., Andersen, C. L. T., Kruse, T., Rossing, M. & Thomassen, M., 2018, In: Acta Oncologica. 57, 1, p. 159-162 4 p.

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3 Citations (Scopus)

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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6 Citations (Scopus)

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Blein, S., Bardel, C., Danjean, V., McGuffog, L., Healey, S., Barrowdale, D., Lee, A., Dennis, J., Kuchenbaecker, K. B., Soucy, P., Terry, M. B., Chung, W. K., Goldgar, D. E., Buys, S. S., Janavicius, R., Tihomirova, L., Tung, N., Dorfling, C. M., van Rensburg, E. J., Neuhausen, S. L., & 31 othersDing, Y. C., Gerdes, A-M., Ejlertsen, B., Nielsen, F. C., Hansen, T. V., Osorio, A., Benitez, J., Andrés-Conejero, R., Segota, E., Weitzel, J. N., Thelander, M., Peterlongo, P., Radice, P., Pensotti, V., Dolcetti, R., Bonanni, B., Peissel, B., Zaffaroni, D., Scuvera, G., Manoukian, S., Varesco, L., Capone, G. L., Papi, L., Ottini, L., Yannoukakos, D., Konstantopoulou, I., Garber, J., Hamann, U., Donaldson, A., Pedersen, I. S. & BCFR, 25 Apr 2015, In: Breast Cancer Research (Online Edition). 17, 61, 61.

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30 Citations (Scopus)

Are Gamers Prone to eThrombosis during Long Gaming Sessions?

Krarup, K. B., Krarup, H. B., Mørk, M., Lundbye-Christensen, S., Handberg, A., Nguyen, H. T. T., Pedersen, I. S. & Kristensen, S. R., 18 Apr 2024, In: Life. 14, 4, 9 p., 525.

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Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

Blanco, I., Kuchenbaecker, K., Cuadras, D., Wang, X., Barrowdale, D., de Garibay, G. R., Librado, P., Sánchez-Gracia, A., Rozas, J., Bonifaci, N., McGuffog, L., Pankratz, V. S., Islam, A., Mateo, F., Berenguer, A., Petit, A., Català, I., Brunet, J., Feliubadaló, L., Tornero, E., & 31 othersBenítez, J., Osorio, A., Cajal, T. R. Y., Nevanlinna, H., Aittomäki, K., Arun, B. K., Toland, A. E., Karlan, B. Y., Walsh, C., Lester, J., Greene, M. H., Mai, P. L., Nussbaum, R. L., Andrulis, I. L., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Barkardottir, R. B., Jakubowska, A., Lubinski, J., Durda, K., Jaworska-Bieniek, K., Claes, K., Van Maerken, T., Díez, O., Hansen, T. V., Jønson, L., Gerdes, A-M., Ejlertsen, B., Pedersen, I. S. & Teixeira, 2015, In: PLOS ONE. 10, 4, p. e0120020

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32 Citations (Scopus)

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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19 Citations (Scopus)

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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36 Citations (Scopus)

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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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Rebbeck, T. R., Mitra, N., Wan, F., Sinilnikova, O. M., Healey, S., McGuffog, L., Mazoyer, S., Chenevix-Trench, G., Easton, D. F., Antoniou, A. C., Nathanson, K. L., Laitman, Y., Kushnir, A., Paluch-Shimon, S., Berger, R., Zidan, J., Friedman, E., Ehrencrona, H., Stenmark-Askmalm, M., Einbeigi, Z., & 31 othersLoman, N., Harbst, K., Rantala, J., Melin, B., Huo, D., Olopade, O. I., Seldon, J., Ganz, P. A., Nussbaum, R. L., Chan, S. B., Odunsi, K., Gayther, S. A., Domchek, S. M., Arun, B. K., Lu, K. H., Mitchell, G., Karlan, B. Y., Walsh, C., Lester, J., Godwin, A. K., Pathak, H., Ross, E., Daly, M. B., Whittemore, A. S., John, E. M., Miron, A., Terry, M. B., Chung, W. K., Goldgar, D. E., Pedersen, I. S. & CIMBA Consortium, 7 Apr 2015, In: JAMA: The Journal of the American Medical Association. 313, 13, p. 1347-61 15 p.

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368 Citations (Scopus)

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Kuchenbaecker, K. B., Neuhausen, S. L., Robson, M., Barrowdale, D., McGuffog, L., Mulligan, A. M., Andrulis, I. L., Spurdle, A. B., Schmidt, M. K., Schmutzler, R. K., Engel, C., Wappenschmidt, B., Nevanlinna, H., Thomassen, M., Southey, M., Radice, P., Ramus, S. J., Domchek, S. M., Nathanson, K. L., Lee, A., & 31 othersHealey, S., Nussbaum, R. L., Rebbeck, T. R., Arun, B. K., James, P., Karlan, B. Y., Lester, J., Cass, I., Terry, M. B., Daly, M. B., Goldgar, D. E., Buys, S. S., Janavicius, R., Tihomirova, L., Tung, N., Dorfling, C. M., van Rensburg, E. J., Steele, L., v O Hansen, T., Ejlertsen, B., Gerdes, A-M., Nielsen, F. C., Dennis, J., Cunningham, J., Hart, S., Slager, S., Osorio, A., Benitez, J., Duran, M., Pedersen, I. S. & Breast Cancer Family Registry, 2014, In: Breast Cancer Research (Online Edition). 16, 6, 27 p., 3416.

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43 Citations (Scopus)

A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

Toft, C. L. F., Ingerslev, H. J., Kesmodel, U. S., Diemer, T., Degn, B., Ernst, A., Okkels, H., Kjartansdóttir, K. R. & Pedersen, I. S., Jun 2020, In: Acta Obstetricia et Gynecologica Scandinavica. 99, 6, p. 696-706 11 p.

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BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population

Nielsen, H. R., Nilbert, M., Petersen, J., Ladelund, S., Thomassen, M., Pedersen, I. S., Hansen, T. V. O., Skytte, A-B., Borg, Å. & Therkildsen, C., 2016, In: Familial Cancer. 15, 4, p. 507-512 6 p.

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8 Citations (Scopus)

BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.

Thomassen, M., Hansen, T. V. O., Borg, A., Lianee, H. T., Wikman, F., Pedersen, I. S., Bisgaard, M. L., Nielsen, F. C., Kruse, T. A. & Gerdes, A-M., 2008, In: Acta Oncologica. 47, p. 772-7 5 p.

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41 Citations (Scopus)

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

Meeks, H. D., Song, H., Michailidou, K., Bolla, M. K., Dennis, J., Wang, Q., Barrowdale, D., Frost, D., EMBRACE, McGuffog, L., Ellis, S., Feng, B., Buys, S. S., Hopper, J. L., Southey, M. C., Tesoriero, A., kConFab Investigators, James, P. A., Bruinsma, F., Campbell, I. G., & 36 othersBroeks, A., Schmidt, M. K., Hogervorst, F. B. L., HEBON, Beckman, M. W., Fasching, P. A., Fletcher, O., Johnson, N., Sawyer, E. J., Riboli, E., Banerjee, S., Menon, U., Tomlinson, I., Burwinkel, B., Hamann, U., Marme, F., Rudolph, A., Janavicius, R., Tihomirova, L., Tung, N., Garber, J., Cramer, D., Terry, K. L., Poole, E. M., Tworoger, S. S., Dorfling, C. M., van Rensburg, E. J., Godwin, A. K., Guénel, P., Truong, T., GEMO Study Collaborators, Stoppa-Lyonnet, D., Damiola, F., Pedersen, I. S., OCGN & PRostate cancer AssoCiation group To Investigate Cancer Associated aLterations in the genome , 2016, In: National Cancer Institute. Journal. 108, 2, 10 p., djv315.

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81 Citations (Scopus)

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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Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Peterlongo, P., Chang-Claude, J., Moysich, K. B., Rudolph, A., Schmutzler, R. K., Simard, J., Soucy, P., Eeles, R. A., Easton, D. F., Hamann, U., Wilkening, S., Chen, B., Rookus, M. A., Schmidt, M. K., van der Baan, F. H., Spurdle, A. B., Walker, L. C., Lose, F., Maia, A-T., Montagna, M., & 181 othersMatricardi, L., Lubinski, J., Jakubowska, A., Gomez-Garcia, E. B., Olopade, O. I., Nussbaum, R. L., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Arun, B. K., Karlan, B. Y., Orsulic, S., Lester, J., Chung, W. K., Miron, A., Southey, M. C., Goldgar, D. E., Buys, S. S., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Ding, Y. C., Neuhausen, S. L., Hansen, T. V. O., Gerdes, A-M., Ejlertsen, B., Jønson, L., Osorio, A., Martinez-Bouzas, C., Benitez, J., Conway, E. E., Blazer, K. R., Weitzel, J. N., Manoukian, S., Peissel, B., Zaffaroni, D., Scuvera, G., Barile, M., Ficarazzi, F., Mariette, F., Fortuzzi, S., Viel, A., Giannini, G., Papi, L., Martayan, A., Tibiletti, M. G., Radice, P., Vratimos, A., Fostira, F., Garber, J. E., Donaldson, A., Brewer, C., Foo, C., Evans, D. G. R., Frost, D., Eccles, D., Brady, A., Cook, J., Tischkowitz, M., Adlard, J., Barwell, J., Walker, L., Izatt, L., Side, L. E., Kennedy, M. J., Rogers, M. T., Porteous, M. E., Morrison, P. J., Platte, R., Davidson, R., Hodgson, S. V., Ellis, S., Cole, T., Godwin, A. K., Claes, K., Van Maerken, T., Meindl, A., Gehrig, A., Sutter, C., Engel, C., Niederacher, D., Steinemann, D., Plendl, H., Kast, K., Rhiem, K., Ditsch, N., Arnold, N., Varon-Mateeva, R., Wappenschmidt, B., Wang-Gohrke, S., Bressac-de Paillerets, B., Buecher, B., Delnatte, C., Houdayer, C., Stoppa-Lyonnet, D., Damiola, F., Coupier, I., Barjhoux, L., Venat-Bouvet, L., Golmard, L., Boutry-Kryza, N., Sinilnikova, O. M., Caron, O., Pujol, P., Mazoyer, S., Belotti, M., Piedmonte, M., Friedlander, M. L., Rodriguez, G. C., Copeland, L. J., de la Hoya, M., Perez Segura, P., Nevanlinna, H., Aittomäki, K., van Os, T. A. M., Meijers-Heijboer, H. E. J., Van der Hout, A. H., Vreeswijk, M. P. G., Hoogerbrugge, N., Ausems, M. G. E. M., Van Doorn, H. C., Collée, J. M., Olah, E., Díez, O., Blanco, I., Lazaro, C., Brunet, J., Feliubadaló, L., Cybulski, C., Gronwald, J., Durda, K., Jaworska-Bieniek, K., Sukiennicki, G., Arason, A., Chiquette, J., Teixeira, M. R., Olswold, C., Couch, F. J., Lindor, N. M., Wang, X., Szabo, C. I., Offit, K., Corines, M., Jacobs, L., Robson, M., Zhang, L., Joseph, V., Berger, A., Singer, C. F., Rappaport, C., Geschwantler Kaulich, D., Pfeiler, G., Tea, M-K. M., Phelan, C. M., Greene, M. H., Mai, P. L., Rennert, G., Mulligan, A. M., Glendon, G., Tchatchou, S., Andrulis, I. L., Toland, A. E., Bojesen, A., Pedersen, I. S., Thomassen, M., Jensen, U. B., Laitman, Y., Rantala, J., von Wachenfeldt, A., Ehrencrona, H., Stenmark Askmalm, M., Borg, A., Kuchenbaecker, K. B., McGuffog, L., Barrowdale, D., Healey, S., Lee, A., Pharoah, P. D. P., Chenevix-Trench, G., Antoniou, A. C. & Friedman, E., 2015, In: Cancer Epidemiology, Biomarkers & Prevention. 24, 1, p. 308-316 9 p.

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18 Citations (Scopus)

Cell-based non-invasive prenatal testing (cbNIPT): an alternative to chorionic villus sampling to confirm diagnosis of unaffected fetuses following preimplantation genetic testing for monogenic disorders (PGT-M)

Toft, C. L. F., Ingerslev, H. J., Kesmodel, U. S., Hatt, L., Singh, R., Ravn, K., Hestbek, B., Christensen, I. B., Koelvraa, M., Jeppesen, L. D., Schelde, P., Vogel, I., Uldbjerg, N., Farlie, R., Sommer, S., Ostergaard, M. L. V., Jensen, A. N., Mogensen, H., Degn, B., Okkels, H., & 2 othersErnst, A. & Pedersen, I. S., 1 Jul 2020, In: Human Reproduction. 35, suppl. 1, p. 79 1 p., O-182.

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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 diagnostic marker for pancreatic adenocarcinoma

Henriksen, S. D., Madsen, P. H., Larsen, A. C., Berg Johansen, M., Drewes, A., Pedersen, I. S., Krarup, H. & Thorlacius-Ussing, O., 2016, In: Clinical Epigenetics. 8, 12 p., 117.

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59 Citations (Scopus)

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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Cell-free DNA promoter hypermethylation in plasma as biomarkers for pancreatic adenocarcinoma

Henriksen, S. D., Madsen, P. H., Larsen, A. C., Berg Johansen, M., Drewes, A., Pedersen, I. S., Krarup, H. & Thorlacius-Ussing, O., 2018, Danske Kræftforskningsdage: Abstract Book. p. 98 #90

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Cell-free DNA promoter hypermethylation in plasma as markers for pancreatic adenocarcinoma: Abstracts of the EPC meeting 2016

Henriksen, S. D., Madsen, P. H., Larsen, A. C., Johansen, M. B., Drewes, A., Pedersen, I. S., Krarup, H. & Thorlacius-Ussing, O., Jun 2016, In: Pancreatology. 16, 3, Supplement 1, p. S56-S57

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Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

Thomassen, M., Blanco, A., Montagna, M., Hansen, T. V. O., Pedersen, I. S., Gutiérrez-Enríquez, S., Menéndez, M., Fachal, L., Santamariña, M., Steffensen, A. Y., Jønson, L., Agata, S., Whiley, P., Tognazzo, S., Tornero, E., Jensen, U. B., Balmaña, J., Kruse, T. A., Goldgar, D. E., Lázaro, C., & 3 othersDiez, O., Spurdle, A. B. & Vega, A., 2012, In: Breast Cancer Research and Treatment. 132, p. 1009-23 15 p.

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54 Citations (Scopus)

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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42 Citations (Scopus)

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 and molecular characterization of BRCA-associated breast cancer: results from the DBCG

Soenderstrup, I. M. H., Laenkholm, A. V., Jensen, M. B., Eriksen, J. O., Gerdes, A. M., Hansen, T. V. O., Kruse, T. A., Larsen, M. J., Pedersen, I. S., Rossing, M., Thomassen, M. & Ejlertsen, B., 2018, In: Acta Oncologica. 57, 1, p. 95-101 7 p.

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17 Citations (Scopus)

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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Common polymorphisms in the microsomal epoxide hydrolase and N-acetyltransferase 2 genes in association with inflammatory bowel disease in the Danish population

Ernst, A., Andersen, V., Ostergaard, M., Jacobsen, B. A., Pedersen, I. S., Drewes, A. M., Okkels, H. & Krarup, H. B., 2011, In: European Journal of Gastroenterology and Hepatology. 23, p. 269-74 6 p.

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5 Citations (Scopus)

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

Whiley, P. J., de la Hoya, M., Thomassen, M., Becker, A., Brandão, R., Pedersen, I. S., Montagna, M., Menéndez, M., Quiles, F., Gutiérrez-Enríquez, S., De Leeneer, K., Tenés, A., Montalban, G., Tserpelis, D., Yoshimatsu, T., Tirapo, C., Raponi, M., Caldes, T., Blanco, A., Santamariña, M., & 31 othersGuidugli, L., de Garibay, G. R., Wong, M., Tancredi, M., Fachal, L., Ding, Y. C., Kruse, T. A., Lattimore, V., Kwong, A., Chan, T. L., Colombo, M., De Vecchi, G., Caligo, M., Baralle, D., Lázaro, C., Couch, F., Radice, P., Southey, M. C., Neuhausen, S., Houdayer, C., Fackenthal, J., Hansen, T. V. O., Vega, A., Diez, O., Blok, R., Claes, K., Wappenschmidt, B., Walker, L., Spurdle, A. B., Brown, M. A. & ENIGMA consortium, 2014, In: Clinical Chemistry. 60, 2, p. 341-352 12 p.

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COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

Southey, M. C., Park, D. J., Nguyen-Dumont, T., Campbell, I., Thompson, E., Trainer, A. H., Chenevix-Trench, G., Simard, J., Dumont, M., Soucy, P., Thomassen, M., Jønson, L., Pedersen, I. S., Hansen, T. VO., Nevanlinna, H., Khan, S., Sinilnikova, O., Mazoyer, S., Lesueur, F., Damiola, F., & 31 othersSchmutzler, R., Meindl, A., Hahnen, E., Dufault, M. R., Chris Chan, T., Kwong, A., Barkardóttir, R., Radice, P., Peterlongo, P., Devilee, P., Hilbers, F., Benitez, J., Kvist, A., Törngren, T., Easton, D., Hunter, D., Lindstrom, S., Kraft, P., Zheng, W., Gao, Y-T., Long, J., Ramus, S., Feng, B-J., Weitzel, J. N., Nathanson, K., Offit, K., Joseph, V., Robson, M., Schrader, K., Wang, S. M. & COMPLEXO, 21 Jun 2013, In: Breast Cancer Research (Online Edition). 15, 3, p. 402 2 p.

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29 Citations (Scopus)

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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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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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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DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

Osorio, A., Milne, R. L., Kuchenbaecker, K., Vaclová, T., Pita, G., Alonso, R., Peterlongo, P., Blanco, I., de la Hoya, M., Duran, M., Díez, O., Ramón Y Cajal, T., Konstantopoulou, I., Martínez-Bouzas, C., Andrés Conejero, R., Soucy, P., McGuffog, L., Barrowdale, D., Lee, A., Swe-Brca, & 180 othersArver, B., Rantala, J., Loman, N., Ehrencrona, H., Olopade, O. I., Beattie, M. S., Domchek, S. M., Nathanson, K., Rebbeck, T. R., Arun, B. K., Karlan, B. Y., Walsh, C., Lester, J., John, E. M., Whittemore, A. S., Daly, M. B., Southey, M., Hopper, J., Terry, M. B., Buys, S. S., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Steele, L., Neuhausen, S. L., Ding, Y. C., Hansen, T. V. O., Jønson, L., Ejlertsen, B., Gerdes, A-M., Infante, M., Herráez, B., Moreno, L. T., Weitzel, J. N., Herzog, J., Weeman, K., Manoukian, S., Peissel, B., Zaffaroni, D., Scuvera, G., Bonanni, B., Mariette, F., Volorio, S., Viel, A., Varesco, L., Papi, L., Ottini, L., Tibiletti, M. G., Radice, P., Yannoukakos, D., Garber, J., Ellis, S., Frost, D., Platte, R., Fineberg, E., Evans, G., Lalloo, F., Izatt, L., Eeles, R., Adlard, J., Davidson, R., Cole, T., Eccles, D., Cook, J., Hodgson, S., Brewer, C., Tischkowitz, M., Douglas, F., Porteous, M., Side, L., Walker, L., Morrison, P., Donaldson, A., Kennedy, J., Foo, C., Godwin, A. K., Schmutzler, R. K., Wappenschmidt, B., Rhiem, K., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Plendl, H. J., Niederacher, D., Sutter, C., Wang-Gohrke, S., Steinemann, D., Preisler-Adams, S., Kast, K., Varon-Mateeva, R., Gehrig, A., Stoppa-Lyonnet, D., Sinilnikova, O. M., Mazoyer, S., Damiola, F., Poppe, B., Claes, K., Piedmonte, M., Tucker, K., Backes, F., Rodríguez, G., Brewster, W., Wakeley, K., Rutherford, T., Caldés, T., Nevanlinna, H., Aittomäki, K., Rookus, M. A., van Os, T. A. M., van der Kolk, L., de Lange, J. L., Meijers-Heijboer, H. E. J., van der Hout, A. H., van Asperen, C. J., Gómez Garcia, E. B., Hoogerbrugge, N., Collée, J. M., van Deurzen, C. H. M., van der Luijt, R. B., Devilee, P., Hebon, Olah, E., Lázaro, C., Teulé, A., Menéndez, M., Jakubowska, A., Cybulski, C., Gronwald, J., Lubinski, J., Durda, K., Jaworska-Bieniek, K., Johannsson, O. T., Maugard, C., Montagna, M., Tognazzo, S., Teixeira, M. R., Healey, S., Investigators, K., Olswold, C., Guidugli, L., Lindor, N., Slager, S., Szabo, C. I., Vijai, J., Robson, M., Kauff, N., Zhang, L., Rau-Murthy, R., Fink-Retter, A., Singer, C. F., Rappaport, C., Geschwantler Kaulich, D., Pfeiler, G., Tea, M-K., Berger, A., Phelan, C. M., Greene, M. H., Mai, P. L., Lejbkowicz, F., Andrulis, I., Mulligan, A. M., Glendon, G., Toland, A. E., Bojesen, A., Pedersen, I. S., Sunde, L., Thomassen, M., Kruse, T. A., Jensen, U. B., Friedman, E., Laitman, Y., Shimon, S. P., Simard, J., Easton, D. F., Offit, K., Couch, F. J., Chenevix-Trench, G., Antoniou, A. C. & Benitez, J., Apr 2014, In: P L o S Genetics. 10, 4, p. e1004256

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DNA methylation biomarkers in peripheral blood of patients with head and neck squamous cell carcinomas. A systematic review

Danstrup, C. S., Marcussen, M., Pedersen, I. S., Jacobsen, H., Dybkær, K. & Gaihede, M., 17 Dec 2020, In: PLOS ONE. 15, 12, e0244101.

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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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Early diagnosis of ovarian cancer based on methylation profiles in peripheral blood cell-free DNA: a systematic review

Terp, S. K., Stoico, M. P., Dybkær, K. & Pedersen, I. S., 14 Feb 2023, In: Clinical Epigenetics. 15, 1, 17 p., 24.

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Early experiences with screening for aneuploidy in preimplantation genetic testing for inherited disorders

Diemer, T., Toft, C. L. F., Hnida, C., Degn, B., Okkels, H., Ernst, A., Ingerslev, H. J. & Pedersen, I. S., 1 Oct 2019, In: European Journal of Human Genetics. 27, Suppl. 2, p. 1198-1199 2 p., P01.57A.

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ECEL1 mutation causes fetal arthrogryposis multiplex congenita

Dohrn, N., Le, V. Q., Petersen, A. C., Skovbo, P., Pedersen, I. S., Ernst, A., Krarup, H. & Petersen, M. B., 2015, In: American Journal of Medical Genetics. Part A. 167, 4, p. 731-743 13 p.

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23 Citations (Scopus)

Effects of long computer gaming sessions on lipoprotein levels in healthy male adults

Krarup, K. B., Krarup, H. B., Pedersen, I. S., Mørk, M., Kristensen, S. R., Handberg, A., Wimmer, R. & Nguyen, H. T. T., Aug 2022, In: Atherosclerosis. 355, p. 84 1 p.

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