Catherine Gooch

View Scopus Profile

Catherine Gooch

Assistant Professor of Pediatrics

 https://orcid.org/0000-0002-0919-7933
    • 141
      Citations
    20142025

    Research activity per year

    Personal profile

    Research interests

    Skeletal dysplasias.

    Clinical interests

    Genetics, skeletal dysplasias.

    Fingerprint

    Dive into the research topics where Catherine Gooch is active. These topic labels come from the works of this person and are generated automatically. Together they form a unique fingerprint. Contact the Profiles team with questions.
    • 1 Similar Profiles
    View full fingerprint

    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

    • An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

      Woods, E., Holmes, N., Denommé-Pichon, A. S., Vincent, M., Belova, N., Gooch, C., Isidor, B., Ockeloen, C. W., Pavlidou, E., Stewart, H., Verhoeven, V. J. M., Ververi, A., Dixit, A., Sarkar, A., Legg, R., Reid, E. & Balasubramanian, M., Nov 2025, In: American Journal of Medical Genetics, Part A. 197, 11, e64157.

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

      Open Access
      3 Scopus citations

    • Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity

      Bruel, A. L., Vulto-vanSilfhout, A. T., Bilan, F., Le Guyader, G., Gilbert-Dussardier, B., Le Guillou, X., Rondeau, S., Rio, M., Lee, K. N., Beil, A., Suri, M., Guerin, F., Ruault, V., Goldenberg, A., Lecoquierre, F., Bertsch, N., Anderson, R., Yang, X. R., Inness, M. & Rikeros-Orozco, E. & 16 others, Palomares-Bralo, M., Hayek, J. C., Cech, J., Jhuraney, A., Kumar, R. D., Mercimek-Andrews, S., Ambrose, A., Wakeling, E. N., Wentzensen, I. M., Torti, E., Gooch, C., Faivre, L., Philippe, C., Duffourd, Y., Vitobello, A. & Thauvin-Robinet, C., Jul 2025, In: European Journal of Human Genetics. 33, 7, p. 852-859 8 p.

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

      1 Scopus citations

    • Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

      Küry, S., Stanton, J. E., van Woerden, G. M., Bosc-Rosati, A., Hsieh, T. C., Bray, L., Oloudé, M., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., Deb, W., Vignard, V., Studencka-Turski, M., Besnard, T., Hajdukowicz, A. M., Thiel, F. G. & Wolfgramm, S. & 129 others, Florenceau, L., Cuinat, S., Marsac, S., Verrès, Y., Dangoumau, A., Poirier, L., Wentzensen, I. M., Tuttle, A., Forster, C., Striesow, J., Golnik, R., Ortiz, D., Jenkins, L., Rosenfeld, J. A., Ziegler, A., Houdayer, C., Bonneau, D., Torti, E., Begtrup, A., Monaghan, K. G., Mullegama, S. V., Volker-Touw, C. M. L. N., van Gassen, K. L. I., Oegema, R., de Pagter, M. S., Steindl, K., Rauch, A., Ivanovski, I., McDonald, K., Boothe, E., Dauber, A., Baker, J., Fabie, N. A. V., Bernier, R. A., Turner, T. N., Srivastava, S., Dies, K. A., Swanson, L. C., Costin, C., Abdulrazak, A., Jobling, R. K., Pappas, J., Rabin, R., Niyazov, D., Chun-Hui Tsai, A., Kovak, K., Beck, D. B., Malicdan, M. C. V., Adams, D. R., Wolfe, L., Ganetzky, R. D., Muraresku, C. C., Babikyan, D., Sedláček, Z., Hančárová, M., Timberlake, A. T., Saif, H. A., Nestler, B., King, K., Hajianpour, M. J., Costain, G., Prendergast, D., Li, C., Geneviève, D., Vitobello, A., Sorlin, A., Philippe, C., Harel, T., Toker, O., Sabir, A., Lim, D., Hamilton, M. J., Bryson, L. J., Cleary, E., Weber, S., Hoffman, T. L., Cueto-González, A. M., Tizzano, E. F., Gómez-Andrés, D., Codina-Solà, M., Ververi, A., Pavlidou, E., Lambropoulos, A., Garganis, K., Rio, M., Levy, J., Langas, S. J., McRae, A. M., Lessard, M. K., D’Agostino, M. D., De Bie, I., Wegler, M., Abou Jamra, R., Kamphausen, S. B., Bothe, V., Potocki, L., Olinger, E., Sznajer, Y., Wiame, E., Thompson, M. L., Schroeder, M. C., Gooch, C., Smith, R. A., Pandya, A., Busch, L. M., Völker, U., Hammer, E., Wende, K., Cogné, B., Isidor, B., Meiler, J., Ripoll, C., Bigou, S., Laumonnier, F., Hildebrand, P. W., Eichler, E. E., McWalter, K., Krawitz, P. M., Roux-Dalvai, F., Elgersma, Y., Marcoux, J., Bousquet, M. P., Droit, A., Poschmann, J., Grabrucker, A. M., Bolduc, F. V., Bézieau, S., Ebstein, F. & Krüger, E., Dec 2025, In: Nature communications. 16, 1, 10545.

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

      Open Access

    • 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. E., 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. S., 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. L., Philippe, C., Sadikovic, B., Thauvin-Robinet, C., Olivier-Faivre, L., Ori, M., Thomas, Q. & Vitobello, A., Nov 17 2025, In: The Journal of clinical investigation. 135, 22

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

      Open Access
      1 Scopus citations

    • Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

      9P-ARCH, Dec 2025, In: Genome medicine. 17, 1, 129.

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

      Open Access
    View all 23 Research outputs