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Brian J. Shayota

Brian J. Shayota, MD, MPH

Languages spoken: English

Clinical Locations

  • 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. He is now an Assistant Professor in the division of Medical Genetics at the University of Utah. Dr. Shayota has a Masters of Public Health and participates in the review of the Utah Newborn Screen.

    Dr. Shayota’s clinical interests are inborn errors of metabolism, disorders of energy production including mitochondrial disorders, and undiagnosed and rare genetic conditions. His current research focus is expanding the biochemical phenotype of inborn errors of metabolism through metabolomic testing and identifying novel treatment strategies for rare genetic disorders. As part of this endeavor, Dr. Shayota participates in several clinical trials at the University of Utah.

    Dr. Shayota has also served in various leadership positions for the American College of Medical Genetics (ACMG), Society for Inherited Metabolic Disorders (SIMD), and the Accreditation Council for Graduate Medical Education (ACGME) throughout the years and regularly presents his research achievements at national meetings.

    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. He is now an Assistant Professor in the division of Medical Genetics at the University of Utah. Dr. Shayota has a Masters of Public Health and participates in the review of the Utah Newborn Screen.

    Dr. Shayota’s clinical interests are inborn errors of metabolism, disorders of energy production including mitochondrial disorders, and undiagnosed and rare genetic conditions. His current research focus is expanding the biochemical phenotype of inborn errors of metabolism through metabolomic testing and identifying novel treatment strategies for rare genetic disorders. As part of this endeavor, Dr. Shayota participates in several clinical trials at the University of Utah.

    Dr. Shayota has also served in various leadership positions for the American College of Medical Genetics (ACMG), Society for Inherited Metabolic Disorders (SIMD), and the Accreditation Council for Graduate Medical Education (ACGME) throughout the years and regularly presents his research achievements at national meetings.

    Board Certification and Academic Information

    Academic Departments Pediatrics -Primary
    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
    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
    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. 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.
    2. 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).
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    11. 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.
    12. 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.
    13. 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.
    14. 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.
    15. Shayota BJ, Elsea SH (2018). Behavior and sleep disturbance in Smith-Magenis syndrome. Curr Opin Psychiatry, 32(2), 73-78.
    16. 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.
    17. Shayota BJ, Oelhafen K, Shoja M, Tubbs RS, Loukas M (2013). Abraham Colles and his contributions to anatomy. Clin Anat, 27(5), 670-4.
    18. 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.
    19. 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.
    20. 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.
    21. 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.

    Review

    1. Shayota BJ (2023). Downstream Assays for Variant Resolution: Epigenetics, RNA Sequnncing, and Metabolomics. [Review]. Pediatr Clin North Am, 70(5), 929-936.
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