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Section genome diagnostics

Collaborations and top research areas from the last five years

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  • A novel spliceosomopathy caused by de novo SF3B3 variants

    Musante, L., Janos, P., Pianigiani, G., Cappelli, S., Longo, A., Alves, C., Schwaibold, E. M., Wagner, M., Costain, G., Fridriksdottir, R., Stefansson, K., Sulem, P., Lichtenbelt, K. D., van Binsbergen, E., van Jaarsveld, R. H., Brusco, A., Pavinato, L., Biamino, E., Spano, A. & Hildebrandt, C. C. & 29 others, Chan, Y.-M., Groopman, E., Berkenstadt, M., Koboldt, D., Williamson, R., Brunner, H. G., Vissers, L. E., Torring, P. M., Hao, Q., Gelb, B. D., Goldmuntz, E., Reed, K., Bedoukian, E. C., Vecchio, D., Salzano, E., Piccione, M., Zanus, C., Mio, C., Eichler, E. E., Wang, T., Patterson, W. G., Butler, K. M., Piotrowski, M., Mercier, S., Cogné, B., Wentzensen, I. M., Buratti, E., Magistrato, A. & Faletra, F., 27 Mar 2026, In: Genome Medicine. 18, 34.

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

    Open Access
    File

  • Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS

    Demaegd, K. C., Koole, W., Van Vugt, J. J., Dankbaar, J. W., Hendrikse, J., Nazlı Başak, A., De Carvalho, M., Corcia, P., Codron, P., Bernard, E., Guissart, C., Couratier, P., Povedano Panades, M., Van Doorn, P. A., Warrenburg, B. P., Cooper-Knock, J., Pasterkamp, R. J., Van Rheenen, W., Van Damme, P. & Van den Berg, L. H. & 22 others, Veldink, J. H., Van Es, M. A., Vourc’h, P., Hardiman, O., McLaughin, R., Gotkine, M., Lerner, Y., Drory, V., Ticozzi, N., Silani, V., Salas, T., Jesus, S., Pardina, M., Andersen, P., Weber, M., Al-Chalabi, A., Shaw, C., Shaw, P. J., Morrison, K. E., Landers, J. E., Glass, J. D. & Dalgard, C. L., 18 Feb 2026, In: BMJ Neurology Open. 8, 1, e001417.

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

    Open Access
    File

  • DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

    van der Laan, L., Karimi, K., Rooney, K., Alders, M., Brusco, A., Lasa-Aranzasti, A., Brunetti-Pierri, N., Cueto-Gonzalez, A. M., DuPont, B. R., Cappuccio, G., Dubourg, C., Everman, D., Gatinois, V., Ganne, B., Genevieve, D., Ferrero, G. B., Kempers, M., Levy, M. A., Niceta, M. & Novelli, A. & 19 others, Orlando, V., Odent, S., Patterson, W. G., Polstra, A. M., Roscioli, T., Ruiz-Pallares, N., Sabbagh, Q., Trajkova, S., Tartaglia, M., Tedder, M. A., Toutain, A., Koehler, U., Valenzuela, I., van Hagen, J. M., van der Kevie-Kersemaekers, A.-M., Henneman, P., Mannens, M. M. A. M., Sadikovic, B. & van Haelst, M. M., Jan 2026, In: European Journal of Human Genetics. 34, 1, p. 90-98 9 p.

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

    Open Access
    File
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