Sherin Shaaban, MD, PhD, FACMG
Medical Director: Pharmacogenomics, Molecular Genetics
Assistant Professor, University of Utah School of Medicine
- Doctorate Degree—Genetics, Okayama University
- Medical Degree—Mansoura University
- Fellowship—Clinical Molecular Genetics, Icahn School of Medicine at Mount Sinai
- Research Fellowship—Genetics, Boston Children’s Hospital
- American Board of Medical Genetics and Genomics
- Validation and implementation of pharmacogenetics clinical testing
- Pharmacogenetics in precision medicine
- Molecular testing of rare inherited disorders
- Christensen KD, et al. Precision population medicine in primary care: the Sanford chip experience. Front Genet. 2021;12:626845.
- Jurgens JA, et al. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet. 2021;29(5):816–26.
- Baye JF, et al. Malignant hyperthermia susceptibility: utilization of genetic results in an electronic medical record to increase safety. Pharmacogenomics. 2020;21(17):1207–15.
- Whitman MC, et al. Recurrent rare copy number variants increase risk for esotropia. Invest Ophthalmol Vis Sci. 2022;61(10):22.
- Shaaban S, et al. Genome-wide association study identifies a susceptibility locus for comitant esotropia and suggests a parent-of-origin effect. Invest Ophthalmol Vis Sci. 2018;59(10):4054–64.
- Di Gioia SA, et al. Recessive MYF5 mutations cause external ophthalmoplegia, rib, and vertebral anomalies. Am J Hum Genet. 2018;103(1):115–24.
- Telegrafi A, et al. Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. Am J Med Genet A. 2017;173(10):2763–71.
- Di Gioia SA, et al. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun. 2017;8:16077.