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

Languages spoken: English

Clinical Locations

Primary Children's Hospital

Salt Lake City
801-662-7174
Directions

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

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

    Education history

    Fellowship Medical Biochemical - Baylor College of Medicine/Texas Children's Hospital Fellow
    Residency Medical Genetics - Baylor College of Medicine/Texas Children's Hospital Resident
    Residency Pediatrics - New York Medical College at St. Joseph’s Regional Medical Center Resident
    Professional Medical Medicine; Public Health - St. George's University School of Medicine M.D., M.P.H.
    Undergraduate Major: Human Biology; Minor: Healthcare-Social Issues - University of California, San Diego B.S.

    Selected Publications

    Journal Article

    1. 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, OFallon BD, OShea 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 JL (2025). The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit. NPJ Genom Med, 10(1), 26. (Read full article)
    2. Jenkins SM, Palmquist R, Shayota BJ, Solorzano CM, Bonkowsky JL, Estabrooks P, Tristani-Firouzi M (2025). Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologies. Pediatr Res. (Read full article)
    3. 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 JD (2024). Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling. (Read full article)
    4. Wen T, Shayota BJ, Wallace L, Mani C, Davis N, Zhao J (2024). A Case Report on 13q12.3 Microdeletion Syndrome Caused by HMGB1 Haploinsufficiency. Case Rep Genet, 2024, 1912620. (Read full article)
    5. 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 PJ (2022). Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Hum Mol Genet, 32(3), 386-401. (Read full article)
    6. 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 SM (2022). Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome. Cold Spring Harb Mol Case Stud, 8(7). (Read full article)
    7. Aldag E, Fan EM, Marshall I, Christensen RD, Shayota BJ, Meznarich JA (2022). An Infant With Hereditary Fructose Intolerance and a Novel Presentation of Disseminated Intravascular Coagulopathy Following Pyloromyotomy. J Pediatr Hematol Oncol, 44(7), 409-411. (Read full article)
    8. 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 S (2022). Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia. Mol Genet Genomic Med, 10(4), e1888. (Read full article)
    9. 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 CMB (2021). Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Adv, 3(1), 100074. (Read full article)
    10. Lim J, Shayota BJ, Lay E, Elsea SH, Bekheirnia MR, Tessier MEM, Kralik SF, Rice GM, Soler-Alfonso C, Scaglia F (2021). Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. J Child Neurol, 36(10), 841-852. (Read full article)
    11. Liu N, Xiao J, Gijavanekar C, Pappan KL, Glinton KE, Shayota BJ, Kennedy AD, Sun Q, Sutton VR, Elsea SH (2021). Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism. JAMA Netw Open, 4(7), e2114155. (Read full article)
    12. Shayota BJ, Zhang C, Shypailo RJ, Mazzeu JF, Carvalho CMB, Sutton VR (2020). Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form. Am J Med Genet A, 182(11), 2632-2640. (Read full article)
    13. Gupta P, Shayota BJ, Desai AK, Kiblawi F, Myridakis D, Messina J, Tah P, Tambini-King L, Kishnani PS (2020). A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease. Front Immunol, 11, 1929. (Read full article)
    14. 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 SH (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. Mol Genet Metab, 131(1-2), 147-154. (Read full article)
    15. 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). Mol Genet Metab. (Read full article)
    16. Pillai NR, Yubero D, Shayota BJ, Oyarzbal A, Ghosh R, Sun Q, Azamian MS, Arjona C, Brandi N, Palau F, Lalani SR, Artuch R, Garca-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. (Read full article)
    17. 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. (Read full article)
    18. 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. (Read full article)
    19. 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. (Read full article)
    20. 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. (Read full article)
    21. Shayota BJ, Elsea SH (2018). Behavior and sleep disturbance in Smith-Magenis syndrome. Curr Opin Psychiatry, 32(2), 73-78. (Read full article)
    22. 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. (Read full article)
    23. Shayota BJ, Oelhafen K, Shoja M, Tubbs RS, Loukas M (2013). Abraham Colles and his contributions to anatomy. Clin Anat, 27(5), 670-4. (Read full article)
    24. Oelhafen K, Shayota BJ, Muhleman M, Klaassen Z, Tubbs RS, Loukas M (2012). Benjamin Alcock (1801-?) and his canal. Clin Anat, 26(6), 662-6. (Read full article)
    25. 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. (Read full article)
    26. 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. (Read full article)
    27. 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. (Read full article)

    Review

    1. Shayota BJ (2024). Biomarkers of mitochondrial disorders. [Review]. Neurotherapeutics, 21(1), e00325. (Read full article)
    2. Shayota BJ (2023). Downstream Assays for Variant Resolution: Epigenetics, RNA Sequnncing, and Metabolomics. [Review]. Pediatr Clin North Am, 70(5), 929-936. (Read full article)