Sherin Shaaban
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Sherin Shaaban, MD, PhD, MSci, FACMG

Languages spoken: English

Dr. Shaaban is an Assistant Professor of Pathology at the University of Utah School of Medicine, and the medical director of pharmacogenetics and molecular genetics at ARUP Laboratories. She graduated from Mansoura University Medical School in Egypt, then went on to obtain a PhD in Human Genetics at the Graduate School of Medicine Dentistry and Pharmaceutical Science at Okayama University in Japan. After a genetics research fellowship at Harvard Medical School and Boston Children's Hospital, she finished a clinical molecular genetics fellowship at the department of Genetics and Genomics of Icahn School of Medicine at Mount Sinai, NY.
Dr. Shaaban is board certified by the American Board of Medical Genetics and Genomics and is a fellow of the American College of Medical Genetics and Genomics. Her research and academic interests focus on molecular genetic testing for rare inherited diseases and the validation and implementation of pharmacogenetics testing and personalized genomics.

Board Certification

American Board of Medical Genetics and Genomics

Dr. Shaaban is an Assistant Professor of Pathology at the University of Utah School of Medicine, and the medical director of pharmacogenetics and molecular genetics at ARUP Laboratories. She graduated from Mansoura University Medical School in Egypt, then went on to obtain a PhD in Human Genetics at the Graduate School of Medicine Dentistry and Pharmaceutical Science at Okayama University in Japan. After a genetics research fellowship at Harvard Medical School and Boston Children's Hospital, she finished a clinical molecular genetics fellowship at the department of Genetics and Genomics of Icahn School of Medicine at Mount Sinai, NY.
Dr. Shaaban is board certified by the American Board of Medical Genetics and Genomics and is a fellow of the American College of Medical Genetics and Genomics. Her research and academic interests focus on molecular genetic testing for rare inherited diseases and the validation and implementation of pharmacogenetics testing and personalized genomics.

Board Certification and Academic Information

Academic Departments Pathology -Associate Professor (Clinical)
Board Certification
American Board of Medical Genetics and Genomics

Selected Publications

Journal Article

  1. Di Gioia SA, Shaaban S, Tüysüz B, Elcioglu NH, Chan WM, Robson CD, Ecklund K, Gilette NM, Hamzaoglu A, Tayfun GA, Traboulsi EI, Engle EC (2018). Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. Am J Hum Genet, 103(1), 115-124.
  2. Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, Engle EC, Jabs EW (2012). HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. Am J Hum Genet, 91(1), 171-9.
  3. Shaaban S, Duzcan F, Yildirim C, Chan WM, Andrews C, Akarsu NA, Engle EC (2014). Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. Clin Genet, 85(6), 562-7.
  4. Shaaban S, MacKinnon S, Andrews C, Staffieri SE, Maconachie GDE, Chan WM, Whitman MC, Morton SU, Yazar S, MacGregor S, Elder JE, Traboulsi EI, Gottlob I, Hewitt AW, Strabismus Genetics Research Consortium., Hunter DG, Mackey DA, Engle E (2018). Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Investigative ophthalmology & visual science, 59(10), 4054-4064.
  5. Miyake N, Demer JL, Shaaban S, Andrews C, Chan WM, Christiansen SP, Hunter DG, Engle E (2011). Expansion of the CHN1 strabismus phenotype. Investigative ophthalmology & visual science, 52(9), 6321-8.
  6. Shaaban S, Matsuo T, Fujiwara H, Itoshima E, Furuse T, Hasebe S, Zhang Q, Ott J, Ohtsuki (2009). Chromosomes 4q28.3 and 7q31.2 as new susceptibility loci for comitant strabismus. Investigative ophthalmology & visual science, 50(2), 654-61.
  7. Whitman MC, Di Gioia SA, Chan WM, Gelber A, Pratt BM, Bell JL, Collins TE, Knowles JA, Armoskus C, Pato M, Pato C, Shaaban S, Staffieri S, MacKinnon S, Maconachie GDE, Elder JE, Traboulsi EI, Gottlob I, Mackey DA, Hunter DG, Engle EC, Strabismus Genetics Research Consortium (2020). Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Investigative ophthalmology & visual science, 61(10), 22.
  8. Shaaban S, Matsuo T, Strauch K, Ohtsuki (2009). Investigation of parent-of-origin effect in comitant strabismus using MOD score analysis. Molecular vision, 15, 1351-8.
  9. Shaaban S, El-Lakkany AR, Swelam A, Anwar (2009). Low vision AIDS provision for visually impaired egyptian patients - a clinical outcome. Middle East African journal of ophthalmology, 16(1), 29-34.
  10. Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle E (2013). RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. JAMA ophthalmology, 131(12), 1532-40.