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SMJ Hopman

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    20102025

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    • 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., Herkert, J. C., Hochstenbach, R., Hopman, S., 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.

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    • 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.

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    • Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study

      Bakhuizen, J. J., van Dijk, F., Koudijs, M. J., Bladergroen, R. S., Bon, S. B. B., Hopman, S. M. J., Kester, L. A., Kranendonk, M. E. G., Loeffen, J. L. C., Smetsers, S. E., Sonneveld, E., Tachdjian, M., de Vos-Kerkhof, E., Goudie, C., Merks, J. H. M., Kuiper, R. P. & Jongmans, M. C. J., Oct 2024, In: The Lancet Child and Adolescent Health. 8, 10, p. 751-761 11 p.

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

    • Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window

      Guerrini-Rousseau, L., Masliah-Planchon, J., Filser, M., Tauziède-Espariat, A., Entz-Werle, N., Maugard, C. M., Hopman, S. M. J., Torrejon, J., Gauthier-Villars, M., Simaga, F., Blauwblomme, T., Beccaria, K., Rouleau, E., Dimaria, M., Grill, J., Abbou, S., Claret, B., Brugières, L., Doz, F. & Bouchoucha, Y. & 17 others, Faure-Conter, C., Bonadona, V., Mansuy, L., De Carli, E., Ingster, O., Legrand, C., Pagnier, A., Berthet, P., Bodet, D., Julia, S., Bertozzi, A. I., Wilems, M., Maurage, C. A., Delattre, O., Ayrault, O., Dufour, C. & Bourdeaut, F., 15 May 2024, In: Neuro-oncology advances. 6, 1, 12 p., vdae075.

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    • No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation

      Bakhuizen, J. J., Postema, F. A. M., van Rijn, R. R., van Schuppen, J., Duijkers, F. A. M., van Noesel, C. J. M., Hennekam, R. C., Jongmans, M. C. J., Savci-Heijink, C. D., Smetsers, S. E., Terheggen-Lagro, S. W. J., Hopman, S. M. J., Oomen, M. W. N. & Merks, J. H. M., Mar 2024, In: Journal of Pediatric Surgery. 59, 3, p. 459-463 5 p.

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