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Sherin Shaaban, MD, PhD, FACMG
Medical Director: Pharmacogenomics, Molecular Genetics
Assistant Professor, University of Utah School of Medicine
Education
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
Certifications/Affiliations
American Board of Medical Genetics and Genomics
Research Interests
Validation and implementation of pharmacogenetics clinical testing
Pharmacogenetics in precision medicine
Molecular testing of rare inherited disorders
Publications
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.