Catherine Gooch

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Catherine Gooch

Assistant Professor of Pediatrics

 https://orcid.org/0000-0002-0919-7933
    • 83
      Citations
    20142024

    Research activity per year

    Personal profile

    Research interests

    Skeletal dysplasias.

    Clinical interests

    Genetics, skeletal dysplasias.

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    • Metabolic Bone Disease: An Overview

      Gooch, C., Ekert, P. & Gottesman, G. S., Jul 1 2024, In: Missouri Medicine. 121, 4, p. 297-303 7 p.

      Research output: Contribution to journal › Review article › peer-review

    • MFSD7c functions as a transporter of choline at the blood–brain barrier

      Nguyen, X. T. A., Le, T. N. U., Nguyen, T. Q., Thi Thuy Ha, H., Artati, A., Leong, N. C. P., Nguyen, D. T., Lim, P. Y., Susanto, A. V., Huang, Q., Fam, L., Leong, L. N., Bonne, I., Lee, A., Granadillo, J. L., Gooch, C., Yu, D., Huang, H., Soong, T. W. & Chang, M. W. & 4 others, Wenk, M. R., Adamski, J., Cazenave-Gassiot, A. & Nguyen, L. N., Mar 2024, In: Cell Research. 34, 3, p. 245-257 13 p.

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

      Open Access
      5 Scopus citations

    • Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia

      Wash U./N. I. H. EXTL3 Consortium, Dec 2024, In: Journal of Clinical Immunology. 44, 8, 188.

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

      2 Scopus citations

    • Novel SGCE Mutation in a Patient With Myoclonus-Dystonia

      Klinman, E., Gooch, C., Perlmutter, J., Davis, A. A. & Maiti, B., Mar 7 2024, In: Neurology: Genetics. 10, 2, e200128.

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

      Open Access

    • Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

      Rots, D., Choufani, S., Faundes, V., Dingemans, A. J. M., Joss, S., Foulds, N., Jones, E. A., Stewart, S., Vasudevan, P., Dabir, T., Park, S. M., Jewell, R., Brown, N., Pais, L., Jacquemont, S., Jizi, K., Ravenswaaij-Arts, C. M. A. V., Kroes, H. Y., Stumpel, C. T. R. M. & Ockeloen, C. W. & 84 others, Diets, I. J., Nizon, M., Vincent, M., Cogné, B., Besnard, T., Kambouris, M., Anderson, E., Zackai, E. H., McDougall, C., Donoghue, S., O'Donnell-Luria, A., Valivullah, Z., O'Leary, M., Srivastava, S., Byers, H., Leslie, N., Mazzola, S., Tiller, G. E., Vera, M., Shen, J. J., Boles, R., Jain, V., Brischoux-Boucher, E., Kinning, E., Simpson, B. N., Giltay, J. C., Harris, J., Keren, B., Guimier, A., Marijon, P., de Vries, B. B. A., Motter, C. S., Mendelsohn, B. A., Coffino, S., Gerkes, E. H., Afenjar, A., Visconti, P., Bacchelli, E., Maestrini, E., Delahaye-Duriez, A., Gooch, C., Hendriks, Y., Adams, H., Thauvin-Robinet, C., Josephi-Taylor, S., Bertoli, M., Parker, M. J., Rutten, J. W., Caluseriu, O., Vernon, H. J., Kaziyev, J., Zhu, J., Kremen, J., Frazier, Z., Osika, H., Breault, D., Nair, S., Lewis, S. M. E., Ceroni, F., Viggiano, M., Posar, A., Brittain, H., Giovanna, T., Giulia, G., Quteineh, L., Ha-Vinh Leuchter, R., Zonneveld-Huijssoon, E., Mellado, C., Marey, I., Coudert, A., Aracena Alvarez, M. I., Kennis, M. G. P., Bouman, A., Roifman, M., Amorós Rodríguez, M. I., Ortigoza-Escobar, J. D., Vernimmen, V., Sinnema, M., Pfundt, R., Brunner, H. G., Vissers, L. E. L. M., Kleefstra, T., Weksberg, R. & Banka, S., Aug 8 2024, In: American journal of human genetics. 111, 8, p. 1626-1642 17 p.

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

      Open Access
      1 Scopus citations
    View all 18 Research outputs