Brian J. Shayota
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Brian J. Shayota, MD, MPH

Languages spoken: English

Clinical Locations

Primary Location

Primary Children's Hospital

100 N Mario Capecchi Drive
Salt Lake City , UT 84113
801-662-7174
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Dr. Shayota completed his medical degree at St. George’s University, School of Medicine. He then completed Pediatric residency at New York Medical College in Paterson, NJ and Medical Genetics residency and Medical Biochemical fellowship at Baylor College of Medicine. Dr. Brian Shayota is an Assistant Professor of Pediatrics and Medical Genetics at the University of Utah/Primary Children's Hospital. He is also the Director of Metabolic Services, Director of the Telegenetics Consultation Services offered to Level III NICUs throughout Utah, and Director of the ReSeq clinic.

Dr. Shayota’s career has focused on caring for patients with rare inborn errors of metabolism and discovering new/rare genetic conditions. Dr. Shayota is particularly interested in identifying new therapeutic approaches to rare genetic disorders, including service as the primary investigator on several clinical trials using novel treatments like gene therapy in human trials. He is also the lead metabolic specialist reviewing newborn screens for the states of Utah, Nevada, and Alaska. He is passionate about expanding access to genetic services in rural communities and creating innovative public health programs that place the interests of the patient and their family first.

Specialties

Board Certification

American Board of Pediatrics (Pediatrics)
American Board of Medical Genetics (Medical Biochemical Genetics)
American Board of Medical Genetics and Genomics (Clinical Genetics and Genomics)

Dr. Shayota completed his medical degree at St. George’s University, School of Medicine. He then completed Pediatric residency at New York Medical College in Paterson, NJ and Medical Genetics residency and Medical Biochemical fellowship at Baylor College of Medicine. Dr. Brian Shayota is an Assistant Professor of Pediatrics and Medical Genetics at the University of Utah/Primary Children's Hospital. He is also the Director of Metabolic Services, Director of the Telegenetics Consultation Services offered to Level III NICUs throughout Utah, and Director of the ReSeq clinic.

Dr. Shayota’s career has focused on caring for patients with rare inborn errors of metabolism and discovering new/rare genetic conditions. Dr. Shayota is particularly interested in identifying new therapeutic approaches to rare genetic disorders, including service as the primary investigator on several clinical trials using novel treatments like gene therapy in human trials. He is also the lead metabolic specialist reviewing newborn screens for the states of Utah, Nevada, and Alaska. He is passionate about expanding access to genetic services in rural communities and creating innovative public health programs that place the interests of the patient and their family first.

Board Certification and Academic Information

Academic Departments Pediatrics -Assistant Professor (Clinical)
Academic Divisions Medical Genetics
Board Certification
American Board of Pediatrics (Pediatrics)
American Board of Medical Genetics (Medical Biochemical Genetics)
American Board of Medical Genetics and Genomics (Clinical Genetics and Genomics)

Education history

Undergraduate Major: Human Biology; Minor: Healthcare-Social Issues (09/2004-06/2008) - University of California, San Diego B.S.
Professional Medical Medicine; Public Health (08/2009-04/2014) - St. George's University School of Medicine M.D., M.P.H.
Residency Pediatrics (07/2014-06/2017) - New York Medical College at St. Joseph¿s Regional Medical Center Resident
Residency Medical Genetics (07/2017-06/2019) - Baylor College of Medicine/Texas Children's Hospital Resident
Fellowship Medical Biochemical (07/2019-06/2020) - Baylor College of Medicine/Texas Children's Hospital Fellow

Selected Publications

Journal Article

  1. Oelhafen K, Shayota BJ, Muhleman M, Klaassen Z, Shoja MM, Tubbs RS, Loukas M (2012). Peritoneal bands: a review of anatomical distribution and clinical implications. Am Surg, 78(4), 377-84.
  2. Shayota BJ, Pawar SC, Chamberlain RS (2013). MeSS: A novel prognostic scale specific for pediatric well-differentiated thyroid cancer: a population-based, SEER outcomes study. Surgery, 154(3), 429-35.
  3. Cesmebasi A, Oelhafen K, Shayota BJ, Klaassen Z, Tubbs RS, Loukas M (2014). A historical perspective: Bernhard von Langenbeck German surgeon (1810-1887). Clin Anat, 27(7), 972-5.
  4. Oelhafen K, Shayota BJ, Muhleman M, Klaassen Z, Tubbs RS, Loukas M (2013). Benjamin Alcock (1801-?) and his canal. Clin Anat, 26(6), 662-6.
  5. Shayota BJ, Oelhafen K, Shoja M, Tubbs RS, Loukas M (2014). Abraham Colles and his contributions to anatomy. Clin Anat, 27(5), 670-4.
  6. Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC (2019). Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review. Mol Genet Metab, 128(4), 431-443.
  7. Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, Esquivel CO, Concepcion W, Sampson JB, Cristin DJ, Jackson WE, Gilliland S, Pomfret EA, Kueht ML, Pettit RW, Sherif YA, Emrick LT, Elsea SH, Himes R, Hirano M, Van Hove JLK, Scaglia F, Enns GM, Larson AA (2020). Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).(Epub ahead of print). Mol Genet Metab.
  8. Loukas M, Shayota BJ, Oelhafen K, Miller JH, Chern JJ, Tubbs RS, Oakes WJ (2011). Associated disorders of Chiari Type I malformations: a review. Neurosurg Focus, 31(3), E3.
  9. Shayota BJ, Elsea SH (2019). Behavior and sleep disturbance in Smith-Magenis syndrome. Curr Opin Psychiatry, 32(2), 73-78.
  10. Pillai NR, Yubero D, Shayota BJ, Oyarzábal A, Ghosh R, Sun Q, Azamian MS, Arjona C, Brandi N, Palau F, Lalani SR, Artuch R, García-Cazorla A, Scott DA (2019). Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. Am J Med Genet A, 179(12), 2459-2468.
  11. Shayota BJ, Soler-Alfonso C, Bekheirnia MR, Mizerik E, Boyer SW, Xiao R, Yang Y, Elsea SH, Scaglia F (2019). Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. Am J Med Genet A, 179(5), 803-807.
  12. Shayota B, Wong TL, Fru D, David G, Iwanaga J, Loukas M, Tubbs RS (2019). A comprehensive review of the sinuvertebral nerve with clinical applications. Anat Cell Biol, 52(2), 128-133.
  13. Shayota BJ, Le NT, Bekheirnia N, Rosenfeld JA, Goldstein AC, Moritz M, Bartholomew DW, Pastore MT, Xia F, Eng C, Yang Y, Lamb DJ, Scaglia F, Braun MC, Bekheirnia MR (2019). Characterization of the renal phenotype in RMND1-related mitochondrial disease. Mol Genet Genomic Med, 7(12), e973.
  14. McGee SR, Rajamanickam S, Adhikari S, Falayi OC, Wilson TA, Shayota BJ, Cooley Coleman JA, Skinner C, Caylor RC, Stevenson RE, Quaio CRAC, Wilke BC, Bain JM, Anyane-Yeboa K, Brown K, Greally JM, Bijlsma EK, Ruivenkamp CAL, Politi K, Arbogast LA, Collard MW, Huggenvik JI, Elsea SH, Jensik P (2023). Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Human molecular genetics, 32(3), 386-401.
  15. Reynolds HM, Wen T, Farrell A, Mao R, Moore B, Boyden SE, Bayrak-Toydemir P, Nicholas TJ, Rynearson S, Holt C, Miller C, Noble K, Bentley D, Palmquist R, Ostrander B, Manberg S, Bonkowsky JL, Shayota BJ, Jenkins S (2022). Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome. Cold Spring Harbor molecular case studies, 8(7),
  16. Nicholas TJ, Al-Sweel N, Farrell A, Mao R, Bayrak-Toydemir P, Miller CE, Bentley D, Palmquist R, Moore B, Hernandez EJ, Cormier MJ, Fredrickson E, Noble K, Rynearson S, Holt C, Karren MA, Bonkowsky JL, Tristani-Firouzi M, Yandell M, Marth G, Quinlan AR, Brunelli L, Toydemir RM, Shayota BJ, Carey JC, Boyden SE, Malone Jenkins (2022). Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia. Molecular genetics & genomic medicine, 10(4), e1888.
  17. Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CM (2021). Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG advances, 3(1), 100074.
  18. Lim J, Shayota BJ, Lay E, Elsea SH, Bekheirnia MR, Tessier MEM, Kralik SF, Rice GM, Soler-Alfonso C, Scaglia (2021). Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. Journal of child neurology, 36(10), 841-852.
  19. Liu N, Xiao J, Gijavanekar C, Pappan KL, Glinton KE, Shayota BJ, Kennedy AD, Sun Q, Sutton VR, Elsea S (2021). Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism. JAMA network open, 4(7), e2114155.
  20. Shayota BJ, Zhang C, Shypailo RJ, Mazzeu JF, Carvalho CMB, Sutton V (2020). Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form. American journal of medical genetics. Part A, 182(11), 2632-2640.
  21. Shayota BJ, Donti TR, Xiao J, Gijavanekar C, Kennedy AD, Hubert L, Rodan L, Vanderpluym C, Nowak C, Bjornsson HT, Ganetzky R, Berry GT, Pappan KL, Sutton VR, Sun Q, Elsea S (2020). Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Molecular genetics and metabolism, 131(1-2), 147-154.
  22. Jenkins SM, Palmquist R, Shayota BJ, Solorzano CM, Bonkowsky JL, Estabrooks P, Tristani-Firouzi (2025). Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologies. Pediatric research,
  23. Aceves-Ewing NM, Lanza DG, Marcogliese PC, Lu D, Hsu CW, Gonzalez M, Christiansen AE, Rasmussen TL, Ho AJ, Gaspero A, Seavitt J, Dickinson ME, Yuan B, Shayota BJ, Pachter S, Hu X, Day-Salvatore DL, Mackay L, Kanca O, Wangler MF, Potocki L, Rosenfeld JA, Lewis RA, Chao HT, Lee B, Lee S, Undiagnosed Diseases Network, Baylor College of Medicine Center for Precision Medicine Models, Yamamoto S, Bellen HJ, Burrage LC, Heaney J (2024). Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.
  24. Wen T, Shayota BJ, Wallace L, Mani C, Davis N, Zhao (2024). A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency. Case reports in genetics, 2024, 1912620.
  25. Aldag E, Fan EM, Marshall I, Christensen RD, Shayota BJ, Meznarich J (2022). An Infant With Hereditary Fructose Intolerance and a Novel Presentation of Disseminated Intravascular Coagulopathy Following Pyloromyotomy. Journal of pediatric hematology/oncology, 44(7), 409-411.
  26. Gupta P, Shayota BJ, Desai AK, Kiblawi F, Myridakis D, Messina J, Tah P, Tambini-King L, Kishnani P (2020). A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease. Frontiers in immunology, 11, 1929.
  27. Malone Jenkins S, Palmquist RN, Moore B, Boyden SE, Nicholas TJ, Bayrak-Toydemir P, Mao R, Farrell JAR, Holt CH, Rynearson SG, Solorzano CM, Ward A, Best DH, Al-Sweel N, Bentley DL, Brunelli L, Chow CY, Close DW, Cormier MJ, Deshotel MJ, Durtschi J, Eide EJ, Floyd L, Fredrickson EK, Fulmer ML, Hernandez EJ, Kapron AL, Karren MA, Lewis RG, Miller CE, Murtaugh LC, Nicholson KE, Noble K, O'Fallon BD, O'Shea JM, Pattison DC, Pedersen BS, Petersen BJ, Peterson BD, Pizzo L, Reynolds HM, Rindler P, Torr CB, Wen T, Yost HJ, Zhao J, Yandell M, Marth GT, Quinlan AR, Carey JC, Shayota BJ, Tristani-Firouzi M, Bonkowsky J (2025). The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit. NPJ genomic medicine, 10(1), 26.
  28. Coody TK, De Biase I, Porter JM, Pasquali M, Shayota B (2025). Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism. Molecular genetics and metabolism reports, 45, 101258.

Review

  1. Shayota B (2023). Downstream Assays for Variant Resolution: Epigenetics, RNA Sequnncing, and Metabolomics. Pediatric clinics of North America, 70(5), 929-936.
  2. Shayota B (2024). Biomarkers of mitochondrial disorders. Neurotherapeutics, 21(1), e00325.
  3. Chandra B, Klemmensen M, Shayota BJ, Gropman A (2025). From Crisis to Continuum: Redefining Survivorship in Neurometabolic Care. Pediatric neurology, 173, 5-21.