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Catherine Gooch

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Catherine Gooch

Assistant Professor of Pediatrics

 https://orcid.org/0000-0002-0919-7933
    • 201
      Citations
    20142026

    Research activity per year

    Personal profile

    Research interests

    Skeletal dysplasias.

    Clinical interests

    Genetics, skeletal dysplasias.

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    Collaborations and top research areas from the last five years

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    • Broadening the inherited ASXL3 spectrum and unveiling molecular mechanisms through detailed genotypic-phenotypic analyses

      Woods, E., Holmes, N., Gooch, C., Denommé-Pichon, A. S., Vitobello, A., Vincent, M., Pavlidou, E., Ververi, A., Verhoeven, V. J. M., van Slegtenhorst, M. A., Dixit, A., Sarkar, A. & Balasubramanian, M., Jan 2026, In: Genetics in Medicine Open. 4, 104409.

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

      Open Access

    • Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis

      Watts, L. M., Chang, M. S. M., Lewis-Orr, E., Walton, I. S., Leinhos, L., Tooze, R. S., Pei, Y., Calpena, E., Vedovato-dos-Santos, J. H., Steel, D., Reid, K. M., Kurian, M. A., Mohammad, S. S., Cantagrel, V., Siquier, K., Boddaert, N., Rio, M., Blyth, M., Kraus, A. & Al Mutairi, F. & 43 others, Holder, S. E., Clowes, V. E., Cobben, J. M., Timberlake, A. T., Elias, E. R., Stewart, H., Johnson, D., Cohen, J. S., Barañano, K. W., Ceulemans, S., Jones, M. C., Ortega Rico, R. I., Haug, M. G., Berland, S., Bombei, H. M., Paulson, A., Sidhu, A., Gooch, C. F., da Rocha, K. M., Passos Bueno, M. R., Ţopa, A., Muslimovic, A. Z., Maltese, G., Tan, T. Y., McCann, E., Lord, H., Chin, H. L., Lin, J., Li-Meng Goh, D., Keren, B., Charles, P., Delchev, T., Avdjieva-Tzavella, D., Alawbathani, S., Almeida, L., Kdissa, A., Al-Ali, R., Bertoli-Avella, A. M., Johnson, D., Wilkie, A. O. M., Arkell, R. M., Shears, D. J. & Twigg, S. R. F., Jun 2026, In: Genetics in Medicine. 28, 6, 102585.

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

      Open Access

    • 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
      6   Link opens in a new tab 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

      Open Access
      4   Link opens in a new tab 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
      1   Link opens in a new tab Scopus citations
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