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PA Terhal

drs.

    20002024

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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

      Nov 2024, In: Clinical Immunology. 268, p. 1-17 17 p., 110375.

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

      Open Access
      File
      1 Downloads (Pure)

    • 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

    • AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia

      Terhal, P., Venhuizen, A. J., Lessel, D., Tan, W.-H., Alswaid, A., Grün, R., Alzaidan, H. I., von Kroge, S., Ragab, N., Hempel, M., Kubisch, C., Novais, E., Cristobal, A., Tripolszki, K., Bauer, P., Fischer-Zirnsak, B., Nievelstein, R. A. J., van Dijk, A., Nikkels, P. & Oheim, R. & 4 others, Hahn, H., Bertoli-Avella, A., Maurice, M. M. & Kornak, U., 7 Sept 2023, In: American Journal of Human Genetics. 110, 9, p. 1470-1481 12 p.

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

    • Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

      Maia, N., Ibarluzea, N., Misra-Isrie, M., Koboldt, D. C., Marques, I., Soares, G., Santos, R., Marcelis, C. L. M., Keski-Filppula, R., Guitart, M., Gabau Vila, E., Lehman, A., Hickey, S., Mori, M., Terhal, P., Valenzuela, I., Lasa-Aranzasti, A., Cueto-González, A. M., Chhouk, B. H. & Yeh, R. C. & 11 others, Neil, J. E., Abu-Libde, B., Kleefstra, T., Elting, M. W., Császár, A., Kárteszi, J., Bessenyei, B., van Bokhoven, H., Jorge, P., van Hagen, J. M. & de Brouwer, A. P. M., Jan 2023, In: American Journal of Medical Genetics. Part A. 191, 1, p. 135-143 9 p.

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

      Open Access
      File
      1 Downloads (Pure)

    • Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

      Vegas, N., Demir, Z., Gordon, C. T., Breton, S., Romanelli Tavares, V. L., Moisset, H., Zechi-Ceide, R., Kokitsu-Nakata, N. M., Kido, Y., Marlin, S., Gherbi Halem, S., Meerschaut, I., Callewaert, B., Chung, B., Revencu, N., Lehalle, D., Petit, F., Propst, E. J., Papsin, B. C. & Phillips, J. H. & 17 others, Jakobsen, L., Le Tanno, P., Thévenon, J., McGaughran, J., Gerkes, E. H., Leoni, C., Kroisel, P., Tan, T. Y., Henderson, A., Terhal, P., Basel-Salmon, L., Alkindy, A., White, S. M., Passos-Bueno, M. R., Pingault, V., De Pontual, L. & Amiel, J., May 2022, In: Human mutation. 43, 5, p. 582-594 13 p.

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

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    • 6 Oral presentation
    • 1 Participation in conference
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