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dr. Danielle Bosch

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  • The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)

    Hendricks, L. A. J., Verbeek, K. C. J., Schuurs-Hoeijmakers, J. H. M., de Jong, M. M., Links, T. P., Brems, H., Aerden, M., Brunet, J., Lleuger-Pujol, R., Hüneburg, R., Aretz, S., Colas, C., Villy, M. C., Woodward, E. R., Evans, D. G., Bosch, D. G. M., Donze, S. H., Foretová, L., Blatnik, A. & Leter, E. M. & 30 others, Tischkowitz, M., Jahn, A., de Putter, R., Dupont, J., Briskemyr, S., Steinke-Lange, V., Baldassarri, M., Anastasiadou, V. C., Irmejs, A., Oliveira, C., van der Post, R. S., Mensenkamp, A. R., Tesi, B., Mu, N., Benusiglio, P. R., Gerasimenko, A., Innella, G., Turchetti, D., Houdayer, C., Branchaud, M., Høberg Vetti, H., Tveit Haavind, M., Balmaña, J., Torres, M., Genuardi, M., Panfili, A., Jørgensen, K., Mæhle, L., Hoogerbrugge, N. & Vos, J. R., Oct 2025, In: Genetics in Medicine. 27, 10, 101467.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    1 Citation (Scopus)
    25 Downloads (Pure)

  • Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study

    Hendricks, L. A. J., Verbeek, K. C. J., Schuurs-Hoeijmakers, J. H. M., de Putter, R., Brems, H., Van Daele, S. H., Anastasiadou, V. C., Foretova, L., Benusiglio, P. R., Gerasimenko, A., Colas, C., Villy, M.-C., Houdayer, C., Branchaud, M., Huneburg, R., Aretz, S., Jahn, A., Steinke-Lange, V., Innella, G. & Turchetti, D. & 30 others, Barili, V., Genuardi, M., Panfili, A., Baldassarri, M., Irmejs, A., de Jong, M. M., Links, T. P., Leter, E. M., Bosch, D. G. M., Donze, S. H., van der Post, R. S., Mensenkamp, A. R., Westdorp, H., Hoberg-Vetti, H., Tveit Haavind, M., Jorgensen, K., Maehle, L., Briskemyr, S., Garcia, J. D., Blatnik, A., Balmana, J., Torres, M., Brunet, J., Lleuger-Pujol, R., Tham, E., Tischkowitz, M., Evans, D. G., Hyder, Z., Hoogerbrugge, N. & Vos, J. R., 4 Jun 2025, In: BJC Reports. 3, 1, 10 p., 42.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    5 Downloads (Pure)

  • The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

    Vos, N., Haghshenas, S., van der Laan, L., Russel, P. K. M., Rooney, K., Levy, M. A., Relator, R., Kerkhof, J., McConkey, H., Maas, S. M., Vissers, L. E. L. M., de Vries, B. B. A., Pfundt, R., Elting, M. W., van Hagen, J. M., Verbeek, N. E., Jongmans, M. C. J., Lakeman, P., Rumping, L. & Bosch, D. G. M. & 40 others, Vitobello, A., Thauvin-Robinet, C., Faivre, L., Nambot, S., Garde, A., Willems, M., Genevieve, D., Nicolas, G., Busa, T., Toutain, A., Gérard, M., Bizaoui, V., Isidor, B., Merla, G., Accadia, M., Schwartz, C. E., Ounap, K., Hoffer, M. J. V., Nezarati, M. M., van den Boogaard, M. J. H., Tedder, M. L., Rogers, C., Brusco, A., Ferrero, G. B., Spodenkiewicz, M., Sidlow, R., Mussa, A., Trajkova, S., McCann, E., Mroczkowski, H. J., Jansen, S., Donker-Kaat, L., Duijkers, F. A. M., Stuurman, K. E., Mannens, M. M. A. M., Alders, M., Henneman, P., White, S. M., Sadikovic, B. & van Haelst, M. M., Jun 2024, In: Human Genetics. 143, 6, p. 761-773 13 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    8 Citations (Scopus)
    32 Downloads (Pure)

  • Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)

    Hendricks, L. A. J., Verbeek, K. C. J., Schuurs-Hoeijmakers, J. H. M., Mensenkamp, A. R., Brems, H., de Putter, R., Anastasiadou, V. C., Villy, M. C., Jahn, A., Steinke-Lange, V., Baldassarri, M., Irmejs, A., de Jong, M. M., Links, T. P., Leter, E. M., Bosch, D. G. M., Høberg-Vetti, H., Tveit Haavind, M., Jørgensen, K. & Mæhle, L. & 6 others, Blatnik, A., Brunet, J., Darder, E., Tham, E., Hoogerbrugge, N. & Vos, J. R., 1 Mar 2024, In: Cancers. 16, 5, 953.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    2 Citations (Scopus)
    19 Downloads (Pure)

  • Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

    Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., Aznar-Laín, G., Aneja, A., Hancarova, M., Bendova, S., Schwarz, M., Pourova, R. K., Sedlacek, Z., Keena, B. A., March, M. E. & Hou, C. & 133 others, O’Connor, N., Bhoj, E. J., Harr, M. H., Lemire, G., Boycott, K. M., Towne, M., Li, M., Tarnopolsky, M., Brady, L., Parker, M. J., Faghfoury, H., Parsley, L. K., Agolini, E., Dentici, M. L., Novelli, A., Wright, M., Palmquist, R., Lai, K., Scala, M., Striano, P., Iacomino, M., Zara, F., Cooper, A., Maarup, T. J., Byler, M., Lebel, R. R., Balci, T. B., Louie, R., Lyons, M., Douglas, J., Nowak, C., Afenjar, A., Hoyer, J., Keren, B., Maas, S. M., Motazacker, M. M., Martinez-Agosto, J. A., Rabani, A. M., McCormick, E. M., Falk, M. J., Ruggiero, S. M., Helbig, I., Møller, R. S., Tessarollo, L., Ardori, F. T., Palko, M. E., Hsieh, T. C., Krawitz, P. M., Ganapathi, M., Gelb, B. D., Jobanputra, V., Wilson, A., Greally, J., Jacquemont, S., Jizi, K., Bruel, A. L., Quelin, C., Misra, V. K., Chick, E., Romano, C., Greco, D., Arena, A., Morleo, M., Nigro, V., Seyama, R., Uchiyama, Y., Matsumoto, N., Taira, R., Tashiro, K., Sakai, Y., Yigit, G., Wollnik, B., Wagner, M., Kutsche, B., Hurst, A. C. E., Thompson, M. L., Schmidt, R., Randolph, L., Spillmann, R. C., Shashi, V., Higginbotham, E. J., Cordeiro, D., Carnevale, A., Costain, G., Khan, T., Funalot, B., Mau-Them, F. T., Garcia Moya, L. F., García-Miñaúr, S., Osmond, M., Chad, L., Quercia, N., Carrasco, D., Li, C., Sanchez-Valle, A., Kelley, M., Nizon, M., Jensson, B. O., Sulem, P., Stefansson, K., Gorokhova, S., Busa, T., Rio, M., Habdallah, H. H., Lesieur-Sebellin, M., Amiel, J., Pingault, V., Mercier, S., Vincent, M., Philippe, C., Fatus-Fauconnier, C., Friend, K., Halligan, R. K., Biswas, S., Rosser, J., Shoubridge, C., Corbett, M., Barnett, C., Gecz, J., Leppig, K., Slavotinek, A., Marcelis, C., Pfundt, R., de Vries, B. B. A., van Slegtenhorst, M. A., Brooks, A. S., Cogne, B., Rambaud, T., Tümer, Z., Zackai, E. H., Akizu, N., Song, Y. & Hakonarson, H., 20 Jan 2024, In: Journal of Clinical Investigation. 134, 1, e171235.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    31 Citations (Scopus)
    55 Downloads (Pure)
View all 9 research outputs