dr. Danielle Bosch

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  • 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 othersBlatnik, A., Brunet, J., Darder, E., Tham, E., Hoogerbrugge, N. & Vos, J. R., 1 Mar 2024, In: Cancers. 16, 5, 953.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
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    6 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 othersO’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 journalArticleAcademicpeer-review

    Open Access
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    2 Citations (Scopus)
    7 Downloads (Pure)
  • The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

    Rots, D., Jakub, T. E., Genomics England Research Consortium, Keung, C., Jackson, A., Banka, S., Pfundt, R., de Vries, B. B. A., van Jaarsveld, R. H., Hopman, S. M. J., van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J. M., Andersen, C. B., Kibæk, M., & 31 othersPrijoles, E. J., Stevenson, R. E., Everman, D. B., Patterson, W. G., Meng, L., Gijavanekar, C., De Dios, K., Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P. J., Lopez Garcia, M. S., Perrier, R., Sousa, S. B., Almeida, P. M., Simões, M. J., Isidor, B., Deb, W., Schmanski, A. A., Abdul-Rahman, O., Philippe, C., Bruel, A. L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J. J., Garavelli, L., Caraffi, S. G., Leeuwen, L. & Bosch, D. G. M., 1 Jun 2023, In: American Journal of Human Genetics. 110, 6, p. 963-978 16 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
    2 Citations (Scopus)
  • The Multidisciplinary Guidelines for Diagnosis and Referral in Cerebral Visual Impairment

    Boonstra, F. N., Bosch, D. G. M., Geldof, C. J. A., Stellingwerf, C. & Porro, G., 30 Jun 2022, In: Frontiers in Human Neuroscience. 16, 727565.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
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    15 Citations (Scopus)
    12 Downloads (Pure)
  • De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

    Kim, J-H., Shinde, D. N., Reijnders, M. R. F., Hauser, N. S., Belmonte, R. L., Wilson, G. R., Bosch, D., Bubulya, P. A., Shashi, V., Petrovski, S., Stone, J. K., Park, E. Y., Veltman, JA., Sinnema, M., Stumpel, C., Draaisma, JM., Nicolai, J., Yntema, HG., Lindstrom, K., de Vries, BBA., & 44 othersJewett, T., Santoro, S. L., Vogt, J., Bachman, K. K., Seeley, A. H., Krokosky, A., Turner, C., Rohena, L., Hempel, M., Kortum, F., Lessel, D., Neu, A., Strom, TM., Wieczorek, D., Bramswig, N., Laccone, F. A., Behunova, J., Rehder, H., Gordon, C. T., Rio, M., Romana, S., Tang, S., El-Khechen, D., Cho, M. T., McWalter, K., Douglas, G., Baskin, B., Begtrup, A., Funari, T., Schoch, K., Stegmann, APA., Stevens, SJC., Zhang, D. E., Traver, D., Yao, X., MacArthur, DG., Brunner, HG., Verheijen - Mancini, G., Myers, RM., Owen, L. B., Lim, S. T., Stachura, D. L., Vissers, LELM. & Ahn, E. Y. E., 2016, In: American Journal of Human Genetics. 99, 3, p. 711-719 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    72 Citations (Scopus)