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

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

Recent publications

  • 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
  • Neonatal hydrocephalus: an atypical presentation of malignant infantile osteopetrosisLee, A., Cortez, S., Yang, P., Aum, D., Singh, P., Gooch, C. & Smyth, M., Dec 2021, In: Child's Nervous System. 37, 12, p. 3695-3703 9 p.Research output: Contribution to journal › Review article › peer-review
  • Repeatedly in rhabdomyolysisGooch, C., Dean, S. J. & Marzullo, L., Dec 1 2021, In: Pediatric emergency care. 37, 12, p. E1759-E1760Research output: Contribution to journal › Article › peer-review
  • Genetic testing hearing loss: The challenge of non syndromic mimicsGooch, C., Rudy, N., Smith, R. JH. & Robin, N. H., Nov 2021, In: International Journal of Pediatric Otorhinolaryngology. 150, 110872.Research output: Contribution to journal › Article › peer-review