Gooch Lab

Catherine Gooch, MD

Gooch’s main research interests are clinically studying skeletal dysplasias and orofacial clefting. She has a particular interest in disorders of FGFR3, such as achondroplasia and hypochondroplasia, as well as collagenopathies.

Principal investigator

Catherine F. Gooch, MD

Catherine F. Gooch, MD

Assistant Professor of Pediatrics, Genetics and Genomic Medicine
Director, Skeletal Dysplasia Clinic

Recent publications

  • MFSD7c functions as a transporter of choline at the blood–brain barrierNguyen, 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 othersWenk, 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
  • A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall statureStrong, A., Rao, S., von Hardenberg, S., Li, D., Cox, L. L., Lee, P. C., Zhang, L. Q., Awotoye, W., Diamond, T., Gold, J., Gooch, C., Gowans, L. J. J., Hakonarson, H., Hing, A., Loomes, K., Martin, N., Marazita, M. L., Mononen, T., Piccoli, D., Pfundt, R., & 18 othersRaskin, S., Scherer, S. W., Sobriera, N., Vaccaro, C., Wang, X., Watson, D., Weksberg, R., Bhoj, E., Murray, J. C., Lidral, A. C., Butali, A., Buckley, M. F., Roscioli, T., Koolen, D. A., Seaver, L. […]
  • The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlationsvan Woerden, G. M., Senden, R., de Konink, C., Trezza, R. A., Baban, A., Bassetti, J. A., van Bever, Y., Bird, L. M., van Bon, B. W., Brooks, A. S., Guan, Q., Klee, E. W., Marcelis, C., Rosado, J. M., Schimmenti, L. A., Shikany, A. R., Terhal, P. A., Nicole Weaver, K., Wessels, M. W., van Wieringen, H., & 9 othersHurst, A. C., Gooch, C. F., Steindl, K., Joset, P., Rauch, A., Tartaglia, M., Niceta, M., Elgersma, Y. & Demirdas, S., Oct 2022, In: Human mutation. 43, 10, p. 1377-1395 […]
  • Midterm Outcomes of Heart Transplantation in Children With Genetic DisordersCarvajal, H. G., Gooch, C., Merritt, T. C., Fox, J. C., Pourney, A. N., Kumaresan, H. D., Canter, M. W. & Eghtesady, P., Aug 2022, In: Annals of Thoracic Surgery. 114, 2, p. 519-525 7 p.Research output: Contribution to journal › Article › peer-review
  • Near complete deletion of KMT2D in a college studentGooch, C., Souder, J. P., Tedder, M. L., Kerkhof, J., Lee, J. A., Louie, R. J., Sadikovic, B., Fletcher, R. S. & Robin, N. H., May 2022, In: American Journal of Medical Genetics, Part A. 188, 5, p. 1550-1555 6 p.Research output: Contribution to journal › Article › peer-review