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Federico Ferraro

 https://orcid.org/0000-0003-1365-2529

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  • Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome

    Ferraro, F., Kühn, N., Rots, D., van der Linde, H. C., Mohseni, B., van Unen, L., Drost, M., Nellist, M., Koekkoek, M., Schot, R., de Gier, H. W., Pleumeekers, M., Barakat, T. S., Kleefstra, T., Weerts, M., van Dooren, M. F. & van Ham, T. J., 15 Jan 2026, In: Human Genetics and Genomics Advances. 7, 1, 100523.

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

    Open Access
    File
    4 Downloads (Pure)

  • Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

    Drost, M., Dekker, J., Ferraro, F., Kasteleijn, E., Verschuren, M., Kroon, E., Douben, H. C. W., Vogt, I., van Unen, L., Hoogeveen-Westerveld, M., Elfferich, P., Schot, R., Calandrini, C., Korpershoek, E., Sleutels, F., Brüggenwirth, H. B. R., Hollink, I. R., Meerstein-Kessel, L., Hoefsloot, L. H. & van Slegtenhorst, M. & 32 others, Wilke, M., Weerts, M. J. A., van Minkelen, R., Wagner, A., Bouman, A., van Paassen, B. W., Verheijen-Mancini, G. M., van de Laar, I. M. B. H., Kievit, A. J. A., Verhagen, J. M. A., Stuurman, K. E., Donker Kaat, L., van Dooren, M. F., Wessels, M. W., Oldenburg, R. A., Zeidler, S., van Dijk, T., Barakat, T. S., Verhoeven, V. J. M., van Bever, Y., van Ierland, Y., Bannink, N., van Koningsbruggen, S., Lakeman, P., Leeuwen, L., Verbeek, N. E., Sinnema, M., Heijligers, M., van Asperen, C. J., Saris, J. J., Nellist, M. & van Ham, T. J., 15 Jan 2026, In: Human Genetics and Genomics Advances. 7, 1, 100521.

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

    Open Access
    File
    1 Citation (Scopus)
    25 Downloads (Pure)

  • Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

    Smits, D. J., Ferraro, F., Drost, M., van der Linde, H. C., de Graaf, B. M., van Bever, Y., Brooks, A. S., Bardina, L., Brüggenwirth, H. T., Debuy, C., Donker Kaat, L., van Dijk, B. T., van Engelen, N., Geeven, G., van de Graaf, R., van Haaften-Visser, D. Y., van Hasselt, P. M., Heijsman, D., Hendriks, Y. M. C. & Hitti-Malin, R. J. & 25 others, Hoefsloot, L. H., Huijbregts, G., IJspeert, H., Lamballais, S., Mijalkovic, J., Mol, M. O., Nawawi, D., Nederpelt, N., Nibbeling, E. A. R., Te Rijdt, W., Schot, R., van Slegtenhorst, M., Sleutels, F., Ulenkate, E. L. M., Van Veghel-Plandsoen, M., Verhagen, J. M. A., Vos, D., Wauters, E., Wilke, M., Sylva, M., Barakat, T. S., van Ham, T. J., Kleefstra, T., Rots, D. & Verhoeven, V. J. M., Jan 2026, In: European journal of human genetics : EJHG. 34, 1, p. 108-118 11 p.

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

    Open Access
    File
    2 Citations (Scopus)
    27 Downloads (Pure)

  • Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

    Smits, D. J., Debuy, C., Brooks, A. S., Schot, R., Ferraro, F., Rots, D., Bouman, A., Verhoeven, V. J. M., Kaat, L. D., Kant, S. G., van Bever, Y., Demirdas, S., Zeidler, S., van Dooren, M. F., Donze, S. H., Hoefsloot, L. H., van Slegtenhorst, M. A., Wilke, M., Sleutels, F. & Drost, M. & 14 others, Bruggenwirth, H. T., van Minkelen, R., Goverde, A., Hol, J. A., van de Laar, I. M. B. H., van Ierland, Y., Kievit, A., van der Schoot, V., Stuurman, K. E., Mancini, G. M. S., Wessels, M. W., van Ham, T. J., Kleefstra, T. & Barakat, T. S., Oct 2025, In: European Journal of Human Genetics. 33, 10, p. 1281-1289 9 p.

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

    Open Access
    File
    5 Citations (Web of Science)
    5 Downloads (Pure)

  • Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder

    Schot, R., Ferraro, F., Geeven, G., Diderich, K. E. M. & Barakat, T. S., Oct 2024, In: Clinical Genetics. 106, 4, p. 512-517 6 p.

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

    Open Access
    File
    22 Citations (Scopus)
    140 Downloads (Pure)
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