No photo of Danielle Bosch

View Scopus Profile

dr. Danielle Bosch

Fingerprint

Dive into the research topics where Danielle Bosch is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
  • 1 Similar Profiles
View full fingerprint

Collaborations and top research areas from the last five years

Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Explore network further

  • 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
    3 Citations (Scopus)
    5 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
    1 Citation (Scopus)
    5 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
    12 Citations (Scopus)
    13 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 others, Prijoles, 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 journal › Article › Academic › peer-review

    Open Access
    13 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 journal › Article › Academic › peer-review

    Open Access
    File
    30 Citations (Scopus)
    38 Downloads (Pure)
View all 7 research outputs