Skip to main navigation Skip to search Skip to main content

Metabolomics

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
View all 4 profiles

  • 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, 1, 34.

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

    Open Access
    File

  • Biallelic TMEM72 variants in patients with a nephronophthisis-like phenotype

    Claus, L. R., Snoek, R., Faber, S., Roskothen-Shevchuk, A. J. C., Sendino Garví, E., Peters, E. D. J., Savelberg, S. M. C., Duran, K., van der Zwaag, B., Nguyen, T. Q., Broekhuizen, R., Brummelhuis, W. J., Rookmaaker, M., van der Veen, S. W., Elferink, M. G., Karras, A., Raymond, L., Mousseaux, C., Sadeghi-Alavijeh, O. & Sayer, J. A. & 15 others, Olinger, E., Neatu, R., Klämbt, V., Stokman, M. F., Knoers, N. V. A. M., Tessadori, F., Gale, D. P., Boldt, K., Ueffing, M., Slaats, G. G., Roepman, R., Hildebrandt, F., Mesnard, L., van Haaften, G. & van Eerde, A. M., Apr 2026, In: Nephron. 150, 4, p. 210-227 18 p.

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

    Open Access
    File
    1 Downloads (Pure)

  • Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome

    Nagaraj, V., Thomas, Q. H., Nóbrega, P. R., Rodriguez Gil, J. L., Garavatti, E., Scala, M., Severino, M., Efthymiou, S., Amaral, S., Ng, T. C., Inder, T., Gao, J., Matreyek, K. A., Castro, M. A. A., Kok, F., Sakata, M. T., Lima, P. L. G. D. S. B., Pessoa, A. L. S., Safraou, H. & Bernstein, J. A. & 5 others, Nichols, C. G., van Haaften, G., Tran Mau-Them, F., Smeland, M. F. & McClenaghan, C., Aug 2026, In: Neurology: Genetics. 12, 4, 10 p., e200385.

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

    Open Access
    File
View all 281 research outputs
  • 2 Types of Public engagement and outreach - Media article or participation
  • 1 Invited talk