Skip to main navigation Skip to search Skip to main content
No photo of SMJ Hopman

View Scopus Profile

SMJ Hopman

dr.

    20102026

    Research activity per year

    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

    • Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder

      Wang, Q., Sobering, A. K., Tirrito, C., Haghshenas, S., Hjortshøj, T. D., Platzer, K., Redler, S., March, M. E., Matsuoka, L. S., Xi, H., Zoodsma, J., Chen, Y., Mori, M., Leung, M. L., Couque, N., Verloes, A., Pouzet, A., Giesbertz, N. A., Simon, M. E. & Yearwood, A. K. & 38 others, Assing, D. L., Hsieh, T.-C., Li, J.-M., Levy, M. A., Kerkhof, J., McConkey, H., Rzasa, J., Lauzon-Young, C., Sulaiman, R. A., Abdulwahab, F., Shamseldin, H. E., Almontashiri, N. A., Afqi, M., Vedanarayanan, V., Guillen Sacoto, M. J., Wentzensen, I. M., Damseh, N. S., Birnbaum, R., van Ommeren, B., Hopman, S. M., Zaki, M. S., Elmakkawy, G., Afzal, E., Kim, J., Efthymiou, S., Houlden, H., Nusrat, A., Toft, M., Abdullah, U., Iqbal, Z., Terek, S., Alkuraya, F. S., Bhoj, E. J., Maroofian, R., Sadikovic, B., Hakonarson, H., Song, Y. & Li, D., 3 Aug 2026, In: The Journal of clinical investigation. 136, 15, e198229.

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

      Open Access
      File

    • Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance

      Moghadasi, S., Zanti, M., Bleeker, F., Blok, M., Braspenning, M. E., Cerna, M., Collee, M. J., Engel, C., Hopman, S., Kleiblova, P., Koole, W., Mensenkamp, A., Overwater, E., Palmero, E. I., Snijders Blok, L., Storm, K., Stringa, N., Wevers, M. R., Vreeswijk, M. P. G. & Goldgar, D. & 2 others, Michailidou, K. & Gómez García, E. B., 20 Feb 2026, In: Journal of Medical Genetics. 63, 3, p. 157-163 7 p.

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

      Open Access
      File
      1 Downloads (Pure)

    • CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

      van der Laan, L., Silva, A., Kleinendorst, L., Rooney, K., Haghshenas, S., Lauffer, P., Alanay, Y., Bhai, P., Brusco, A., de Munnik, S., de Vries, B. B. A., Vega, A. D., Engelen, M., Hopman, S., Herkert, J. C., Hochstenbach, R., Kant, S. G., Kira, R., Kato, M. & Keren, B. & 24 others, Kroes, H. Y., Levy, M. A., Lock-Hock, N., Maas, S. M., Mancini, G. M. S., Marcelis, C., Matsumoto, N., Mizuguchi, T., Mussa, A., Mignot, C., Närhi, A., Nordgren, A., Pfundt, R., Polstra, A. M., Trajkova, S., van Bever, Y., José van den Boogaard, M., van der Smagt, J. J., Barakat, T. S., Alders, M., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 9 Jan 2025, In: Human Genetics and Genomics Advances. 6, 1, 100380.

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

      Open Access
      File
      13 Downloads (Pure)

    • Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant

      van Engelen, N., de Krijger, R. R., Kleisman, M. M., Kester, L. A., Hopman, S. M. J., Kranendonk, M. E. G., Vermeulen, M. A., Tops, C., Kim, S.-Y., Clevers, H., Neveling, K., Kuiper, R. P. & Jongmans, M. C. J., Sept 2025, In: Pediatric Blood & Cancer. 72, 9, e31872.

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

      Open Access
      File
      6 Downloads (Pure)

    • ARID1B-related disorder in 87 adults: Natural history and self-sustainability

      van der Sluijs, P. J., Gösgens, M., Dingemans, A. J. M., Striano, P., Riva, A., Mignot, C., Faudet, A., Vasileiou, G., Walther, M., Schrier Vergano, S. A., Alders, M., Alkuraya, F. S., Alorainy, I., Alsaif, H. S., Anderlid, B., Bache, I., van Beek, I., Blanluet, M., van Bon, B. W. & Brunet, T. & 66 others, Brunner, H., Carriero, M. L., Charles, P., Chatron, N., Coccia, E., Dubourg, C., Earl, R. K., Eichler, E. E., Faivre, L., Foulds, N., Graziano, C., Guerrot, A. M., Hashem, M. O., Heide, S., Heron, D., Hickey, S. E., Hopman, S. M. J., Kattentidt-Mouravieva, A., Kerkhof, J., Klein Wassink-Ruiter, J. S., Kurtz-Nelson, E. C., Kušíková, K., Kvarnung, M., Lecoquierre, F., Leszinski, G. S., Loberti, L., Magoulas, P. L., Mari, F., Maystadt, I., Merla, G., Milunsky, J. M., Moortgat, S., Nicolas, G., Leary, M. O. ’., Odent, S., Ozmore, J. R., Parbhoo, K., Pfundt, R., Piccione, M., Pinto, A. M., Popp, B., Putoux, A., Rehm, H. L., Reis, A., Renieri, A., Rosenfeld, J. A., Rossi, M., Salzano, E., Saugier-Veber, P., Seri, M., Severi, G., Sonmez, F. M., Strobl-Wildemann, G., Stuurman, K. E., Uctepe, E., Van Esch, H., Vitetta, G., de Vries, B. B. A., Wahl, D., Wang, T., Zacher, P., Heitink, K. R., Ropers, F. G., Steenbeek, D., Rybak, T. & Santen, G. W. E., Jan 2024, In: Genetics in Medicine Open. 2, 101873.

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

      Open Access
      File
      4 Downloads (Pure)
    View all 36 research outputs
    • 1 Consultancy