Shinawi Lab
Marwan Shinawi, MD
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
Recent publications
- 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
- Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entitiesWongkittichote, P., Duque Lasio, M. L., Magistrati, M., Pathak, S., Sample, B., Carvalho, D. R., Ortega, A. B., Castro, M. A. A., de Gusmao, C. M., Toler, T. L., Bellacchio, E., Dallabona, C. & Shinawi, M., Aug 2023, In: Molecular genetics and metabolism. 139, 4, 107630.Research output: Contribution to journal › Article › peer-review
- Hyperammonemia and acute liver failure associated with deferasirox in two adolescents with sickle cell diseaseTowerman, A. S., Guilliams, K. P., Guerriero, R., Shinawi, M. S., Stoll, J. M., Willis, D. N. & Hulbert, M. L., May 2023, In: British Journal of Haematology. 201, 4, p. e30-e33Research output: Contribution to journal › Letter › peer-review
- Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cordWongkittichote, P., Choi, T. I., Kim, O. H., Riley, K., Koeberl, D., Narayanan, V., Ramsey, K., Balak, C., Schwartz, C. E., Cueto-Gonzalez, A. M., Casadesus, F. M., Kim, C. H. & Shinawi, M. S., Feb 2023, In: Clinical Genetics. 103, 2, p. 167-178 12 p.Research output: Contribution to journal › Article › peer-review
- A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological StudyWilke, M. V. M. B., de Oliveira, B. M., Starosta, R. T., Shinawi, M., Lu, L., He, M., Ma, Y., Stoll, J., de Souza, C. F. M., de Siqueira, A. C. M., Vieira, S. M. G., Cerski, C. T., Refosco, L. F. & Schwartz, I. V. D., Feb 2023, In: Biomedicines. 11, 2, 363.Research output: Contribution to journal › Article › peer-review