20022022

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  • Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors

    van de Beek, I., Glykofridis, I. E., Wagner, A., den Toom, D. T., Bongers, E. M. H. F., van Leenders, G. J. L. H., Johannesma, P. C., Meijers-Heijboer, H. E. J., Wolthuis, R. M. F., van Steensel, M. A. M., Dubbink, H. J. & Houweling, A. C., 2022, (E-pub ahead of print) In: Molecular Genetics and Genomic Medicine.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Detection and localization of early- and late-stage cancers using platelet RNA

    In 't Veld, S. G. J. G., Arkani, M., Post, E., Antunes-Ferreira, M., D'Ambrosi, S., Vessies, D. C. L., Vermunt, L., Vancura, A., Muller, M., Niemeijer, A-L. N., Tannous, J., Meijer, L. L., Le Large, T. Y. S., Mantini, G., Wondergem, N. E., Heinhuis, K. M., van Wilpe, S., Smits, A. J., Drees, E. E. E., Roos, E., & 96 othersLeurs, C. E., Tjon Kon Fat, L-A., van der Lelij, E. J., Dwarshuis, G., Kamphuis, M. J., Visser, L. E., Harting, R., Gregory, A., Schweiger, M. W., Wedekind, L. E., Ramaker, J., Zwaan, K., Verschueren, H., Bahce, I., de Langen, A. J., Smit, E. F., van den Heuvel, M. M., Hartemink, K. J., Kuijpers, M. J. E., Oude Egbrink, M. G. A., Griffioen, A. W., Rossel, R., Hiltermann, T. J. N., Lee-Lewandrowski, E., Lewandrowski, K. B., De Witt Hamer, P. C., Kouwenhoven, M., Reijneveld, J. C., Leenders, W. P. J., Hoeben, A., Verdonck-de Leeuw, I. M., Leemans, C. R., Baatenburg de Jong, R. J., Terhaard, C. H. J., Takes, R. P., Langendijk, J. A., de Jager, S. C., Kraaijeveld, A. O., Pasterkamp, G., Smits, M., Schalken, J. A., Łapińska-Szumczyk, S., Łojkowska, A., Żaczek, A. J., Lokhorst, H., van de Donk, N. W. C. J., Nijhof, I., Prins, H-J., Zijlstra, J. M., Idema, S., Baayen, J. C., Teunissen, C. E., Killestein, J., Besselink, M. G., Brammen, L., Bachleitner-Hofmann, T., Mateen, F., Plukker, J. T. M., Heger, M., de Mast, Q., Lisman, T., Pegtel, D. M., Bogaard, H-J., Jassem, J., Supernat, A., Mehra, N., Gerritsen, W., de Kroon, C. D., Lok, C. A. R., Piek, J. M. J., Steeghs, N., van Houdt, W. J., Brakenhoff, R. H., Sonke, G. S., Verheul, H. M., Giovannetti, E., Kazemier, G., Sabrkhany, S., Schuuring, E., Sistermans, E. A., Wolthuis, R., Meijers-Heijboer, H., Dorsman, J., Oudejans, C., Ylstra, B., Westerman, B. A., van den Broek, D., Koppers-Lalic, D., Wesseling, P., Nilsson, R. J. A., Vandertop, W. P., Noske, D. P., Tannous, B. A., Sol, N., Best, M. G. & Wurdinger, T., 12 Sep 2022, In: Cancer Cell. 40, 9, p. 999-1009.e6

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Erratum: Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms(Genet Med (2021)23(103-110)(s41436020009394)(10.1038/s41436-020-00939-4))

    van Walree, E. S., Dombrowsky, G., Jansen, I. E., Umićević Mirkov, M., Zwart, R., Ilgun, A., Guo, D., Clur, S-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu'Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E., Christoffels, V. M., & 6 othersHitz, M-P., Milewicz, D. M., Posthuma, D., Meijers-Heijboer, H., Postma, A. V. & Mathijssen, I. B., 1 Apr 2022, In: Genetics in Medicine. 24, 4, p. 965 1 p.

    Research output: Contribution to journalComment/Letter to the editorAcademic

    Open Access
  • Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case-Control Study of 105 Patients

    Cooiman, M. I., Alsters, S. I. M., Duquesnoy, M., Hazebroek, E. J., Meijers-Heijboer, H. J., Chahal, H., Le Beyec-Le Bihan, J., Clément, K., Soula, H., Blakemore, A. I., Poitou, C. & van Haelst, M. M., Mar 2022, In: Obesity Surgery. 32, 3, p. 837-844 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • 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., & 373 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. L., 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. L., 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. L., 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. R., 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., 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., 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., Eccles, D. 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., 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., GEMO Study Collaborators, Carpenter, J., EMBRACE Collaborators, Davis, A., KConFab Investigators, HEBON Investigators, Pathmanathan, N., ABCTB Investigators, 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., Milne, R. L., 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. K., 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., Southey, M. C., 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., 1 Dec 2021, In: Nature Communications. 12, 1, 1078.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access