Shinawi Lab

The research of Marwan Shinawi, MD, focuses on clinical genomics and the application of exome and genome sequencing as well as microarray analysis for disease gene discovery of undiagnosed genetic syndromes.

Principal investigator

Marwan Shinawi, MD

Professor of Pediatrics, Genetics and Genomic Medicine

• Phone: 314-454-6093

Recent publications

• MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks
  April 1, 2024
  MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaksMathias, B., O'Leary, D., Saucier, N., Ahmad, F., White, L. S., Russell, LM. M., Shinawi, M., Smith, M. J., Abraham, R. S., Cooper, M. A., Kitcharoensakkul, M., Green, A. M. & Bednarski, J. J., Apr 2024, In: Journal of Allergy and Clinical Immunology. 153, 4, p. 1113-1124.e7Research output: Contribution to journal › Article › peer-review
• CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
  March 1, 2024
  CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature reviewAl-Kateb, H., Au, P. Y. B., Berland, S., Cogne, B., Demurger, F., Fluss, J., Isidor, B., Frank, L. M., Varvagiannis, K., Koolen, D. A., McDonald, M., Montgomery, S., Moortgat, S., Deprez, M., Karadurmus, D., Paulsen, J., Reis, A., Rieger, M., Vasileiou, G., Willing, M., & 1 othersShinawi, M., Mar 2024, In: Clinical Genetics. 105, 3, p. 294-301 8 p.Research output: Contribution to journal › Article › peer-review
• SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
  December 1, 2023
  SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisStefanski, A., Pérez-Palma, E., Brünger, T., Montanucci, L., Gati, C., Klöckner, C., Johannesen, K. M., Goodspeed, K., MacNee, M., Deng, A. T., Aledo-Serrano, Á., Borovikov, A., Kava, M., Bouman, A. M., Hajianpour, M. J., Pal, D. K., Engelen, M., Hagebeuk, E. E. O., Shinawi, M., Heidlebaugh, A. R., & 26 othersOetjens, K., Hoffman, T. L., Striano, P., Freed, A. S., Futtrup, L., Balslev, T., Abulí, A., Danvoye, L., Lederer, D., Balci, T., Nouri, M. N., Butler, E., Drewes, S., Van Engelen, K., Howell, K. B., Khoury, J., May, P., […]
• Case report: malignant hypertension associated with catecholamine excess in a patient with Leigh syndrome
  December 1, 2023
  Case report: malignant hypertension associated with catecholamine excess in a patient with Leigh syndromeSolis, A., Shimony, J., Shinawi, M. & Barton, K. T., Dec 2023, In: Clinical Hypertension. 29, 1, 7.Research output: Contribution to journal › Article › peer-review
• Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
  November 2, 2023
  Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesUndiagnosed Disease Network, Nov 2 2023, In: American journal of human genetics. 110, 11, p. 1919-1937 19 p.Research output: Contribution to journal › Article › peer-review