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PA Terhal

drs.

    1997 …2025

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    • A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndrome

      Fairall, L., Sirvydis, K., Turnbull, R. E., Knottnerus, S. J., Gonchar, O., Muskett, F. W., Jukes-Jones, R., van Brussel, L., van de Geer, E., van Gassen, K., Badenhorst, P., Johnson, D., Terhal, P. A., van Hasselt, P. M., van Jaarsveld, R. H. & Schwabe, J. W., 25 Nov 2025, In: Nature Communications. 16, 1, 10472.

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

      Open Access
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    • PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

      Masson, A., Paccaud, J., Orefice, M., Colin, E., Mäkitie, O., Cormier-Daire, V., Relator, R., Ghosh, S., Strub, J.-M., Schaeffer-Reiss, C., Marcelis, C., Koolen, D. A., Pfundt, R., de Boer, E., Vissers, L. E., Gardeitchik, T., Aarts, L. A., Rinne, T., Terhal, P. A. & Verbeek, N. E. & 75 others, Zuurbier, L. C., Plomp, A. S., Wessels, M. W., de Man, S. A., Bouman, A., Bird, L. M., Saadeh-Haddad, R., Guillen Sacoto, M. J., Person, R., Gooch, C., Hurst, A. C., Thompson, M. L., Hiatt, S. M., Littlejohn, R. O., Roeder, E. R., Mori, M., Hickey, S., Hunter, J. M., Lee, K., Osman, K., Halloun, R., Bachmann-Gagescu, R., Rauch, A., Wieczorek, D., Platzer, K., Luppe, J., Duplomb-Jego, L., El It, F., Duffourd, Y., Tran Mau-Them, F., Huber, C., Gordon, C. T., Taylan, F., Mäkitie, R. E., Costantini, A., Valta, H., Robertson, S., Poke, G., Francoise, M., Ciolfi, A., Tartaglia, M., Ekhilevitch, N., Zaid, R., Levy, M. A., Kerkhof, J., McConkey, H., Delanne, J., Chevarin, M., Vautrot, V., Bourgeois, V., Nguyen, S., Marle, N., Callier, P., Safraou, H., Morgan, A., Amor, D. J., Hildebrand, M., Coman, D., Aubert Mucca, M., Thevenon, J., Laffargue, F., Bilan, F., Pebrel-Richard, C., Yoon, G., Axford, M. M., Pérez-Jurado, L. A., Sevilla-Porras, M., Black, D., Philippe, C., Sadikovic, B., Thauvin-Robinet, C., Olivier-Faivre, L., Ori, M., Thomas, Q. & Vitobello, A., 17 Nov 2025, In: Journal of Clinical Investigation. 135, 22, 18 p., e182100.

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

      Open Access
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    • Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenic SGMS2-related osteoporosis

      Pihlström, S., Oghabian, A., Määttä, K., Legebeke, J., Mäkitie, R. E., Campeau, P. M., Terhal, P. A., Botto, L. D., Olkkonen, V. M., Mäkitie, O. & Pekkinen, M., Oct 2025, In: JBMR Plus. 9, 10, ziaf128.

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

      Open Access
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    • Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis

      on behalf of all members of the Radboud University Medical Center multidisciplinary immune-disease board, Nov 2024, In: Clinical Immunology. 268, p. 1-17 17 p., 110375.

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

      Open Access
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    • Germline mutations in a G protein identify signaling cross-talk in T cells

      Ham, H., Jing, H., Lamborn, I. T., Kober, M. M., Koval, A., Berchiche, Y. A., Anderson, D. E., Druey, K. M., Mandl, J. N., Isidor, B., Ferreira, C. R., Freeman, A. F., Ganesan, S., Karsak, M., Mustillo, P. J., Teo, J., Zolkipli-Cunningham, Z., Chatron, N., Lecoquierre, F. & Oler, A. J. & 82 others, Schmid, J. P., Kuhns, D. B., Xu, X., Hauck, F., Al-Herz, W., Wagner, M., Terhal, P. A., Muurinen, M., Barlogis, V., Cruz, P., Danielson, J., Stewart, H., Loid, P., Rading, S., Keren, B., Pfundt, R., Zarember, K. A., Vill, K., Potocki, L., Olivier, K. N., Lesca, G., Faivre, L., Wong, M., Puel, A., Chou, J., Tusseau, M., Moutsopoulos, N. M., Matthews, H. F., Simons, C., Taft, R. J., Soldatos, A., Masle-Farquhar, E., Pittaluga, S., Brink, R., Fink, D. L., Kong, H. H., Kabat, J., Kim, W. S., Bierhals, T., Meguro, K., Hsu, A. P., Gu, J., Stoddard, J., Banos-Pinero, B., Slack, M., Trivellin, G., Mazel, B., Soomann, M., Li, S., Watts, V. J., Stratakis, C. A., Rodriguez-Quevedo, M. F., Bruel, A. L., Lipsanen-Nyman, M., Saultier, P., Jain, R., Lehalle, D., Torres, D., Sullivan, K. E., Barbarot, S., Neu, A., Duffourd, Y., Similuk, M., McWalter, K., Blanc, P., Bézieau, S., Jin, T., Geha, R. S., Casanova, J. L., Makitie, O. M., Kubisch, C., Edery, P., Christodoulou, J., Germain, R. N., Goodnow, C. C., Sakmar, T. P., Billadeau, D. D., Küry, S., Katanaev, V. L., Zhang, Y., Lenardo, M. J. & Su, H. C., 20 Sept 2024, In: Science. 385, 6715, 17 p., eadd8947.

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

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    • 6 Oral presentation
    • 1 Participation in conference
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