Luca Brunelli

Luca Brunelli, MD, PhD

Languages spoken: Italian, English

Clinical Locations

Intermountain Medical Center

Murray
801-507-7000

Primary Children's Hospital

Newborn Intensive Care Unit
Salt Lake City
801-662-4100

University of Utah Hospital

Newborn Intensive Care Unit
Salt Lake City
801-581-2745

  • Luca Brunelli, M.D., Ph.D. is an Associate Professor in the Division of Neonatology at the University of Utah, School of Medicine. He provides neonatology services at three facilities, the Neonatal Intensive Care Unit (NICU) at University of Utah Hospital, Primary Children’s Hospital and Intermountain Medical Center. Among his responsibilities is educating Pediatric Residents, Neonatology Fellows and Neonatal Nurse Practitioners.

    Specialties

    Board Certification

    American Board of Pediatrics (Sub: Neonatal-Perinatal Medicine)

  • Luca Brunelli, M.D., Ph.D. is an Associate Professor in the Division of Neonatology at the University of Utah, School of Medicine. He provides neonatology services at three facilities, the Neonatal Intensive Care Unit (NICU) at University of Utah Hospital, Primary Children’s Hospital and Intermountain Medical Center. Among his responsibilities is educating Pediatric Residents, Neonatology Fellows and Neonatal Nurse Practitioners.

    Board Certification and Academic Information

    Academic Departments Pediatrics -Primary
    Academic Divisions Neonatology
    Board Certification
    American Board of Pediatrics (Sub: Neonatal-Perinatal Medicine)

    Education history

    Externship The Philadelphia Child & Family Therapy Training Center Externship
    Neonatal-Perinatal Medicine - Thomas Jefferson University Hospital Fellow
    Doctoral Training Biology of Oxygen Free Radicals - University of Turin Ph.D.
    Pediatrics - University of Rochester Resident
    Fellowship Neonatal-Perinatal Medicine - Duke University Medical Center Fellow
    Anesthesiology and Intensive Care - University of Genoa Resident
    Research Fellow Anesthesiology - University of Alabama Research Fellow
    Pediatrics - Gaslini Children's Hospital, Univ. of Genoa Resident
    Professional Medical Medicine - University of Genoa M.D.

    Selected Publications

    Journal Article

    1. Saunders CJ, Brunelli L, Deem MJ, Farrow EG, Hegde M, Stark Z (2024). More Than a Decade of Rapid Genomic Sequencing: Where Are We Now? Clin Chem, 70(4), 577-583. (Read full article)
    2. Wojcik MH, Callahan KP, Antoniou A, Del Rosario MC, Brunelli L, ElHassan NO, Gogcu S, Murthy K, Rumpel JA, Wambach JA, Suhrie K, Fishler K, Chaudhari BP (2023). Provision and availability of genomic medicine services in Level IV neonatal intensive care units. Genet Med, 25(10), 100926. (Read full article)
    3. Fishler KP, Steber HS, Brunelli L, Shope RJ (2023). Exploring collaboration models between geneticists and intensivists for implementing rapid genome sequencing in critical care settings. Am J Med Genet A, 191(9), 2290-2299. (Read full article)
    4. Lantos JD, Brunelli L, Hayeems RZ (2023). Understanding the Clinical Utility of Genome Sequencing in Critically Ill Newborns. J Pediatr, 258, 113438. (Read full article)
    5. Reiley J, Botas P, Miller CE, Zhao J, Malone Jenkins S, Best H, Grubb PH, Mao R, Isla J, Brunelli L (2023). Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants. Children (Basel), 10(6). (Read full article)
    6. Peterson B, Hernandez EJ, Hobbs C, Malone Jenkins S, Moore B, Rosales E, Zoucha S, Sanford E, Bainbridge MN, Frise E, Oriol A, Brunelli L, Kingsmore SF, Yandell M (2023). Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning. Genome Med, 15(1), 18. (Read full article)
    7. Brower A, Chan K, Williams M, Berry S, Currier R, Rinaldo P, Caggana M, Gaviglio A, Wilcox W, Steiner R, Holm IA, Taylor J, Orsini JJ, Brunelli L, Adelberg J, Bodamer O, Viall S, Scharfe C, Wasserstein M, Chen JY, Escolar M, Goldenberg A, Swoboda K, Ficicioglu C, Matern D, Lee R, Watson M (2022). Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). Front Genet, 13, 867337. (Read full article)
    8. Fishler KP, Euteneuer JC, Brunelli L (2022). Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States. Int J Neonatal Screen, 8(1). (Read full article)
    9. 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)
    10. Palmquist R, Jenkins SM, Bentley D, Miller C, Mao R, Meibos B, Bayrak-Toydemir P, Tvrdik T, Nadauld LD, Bleyl SB, Chowdhury S, Ostrander B, Flores-Daboub J, Longo N, Tristani-Firouzi M, Hobbs C, Bonkowsky JL, Brunelli L (2022). Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics. Pediatr Res. (Read full article)
    11. Brunelli L, Brumberg HL, Fernndez Y Garca E, Mukhopadhyay S, Shah SI, Soranno DE, Tremblay ES, Diversity Equity and Inclusion Committee and the Advocacy Committee of the Society for Pediatric Research (2021). Healthcare and human rights: a reflection. Pediatr Res, 91(3), 707-708. (Read full article)
    12. NICUSeq Study Group, Krantz ID, Medne L, Weatherly JM, Wild KT, Biswas S, Devkota B, Hartman T, Brunelli L, Fishler KP, Abdul-Rahman O, Euteneuer JC, Hoover D, Dimmock D, Cleary J, Farnaes L, Knight J, Schwarz AJ, Vargas-Shiraishi OM, Wigby K, Zadeh N, Shinawi M, Wambach JA, Baldridge D, Cole FS, Wegner DJ, Urraca N, Holtrop S, Mostafavi R, Mroczkowski HJ, Pivnick EK, Ward JC, Talati A, Brown CW, Belmont JW, Ortega JL, Robinson KD, Brocklehurst WT, Perry DL, Ajay SS, Hagelstrom RT, Bennett M, Rajan V, Taft RJ (2021). Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA Pediatr, 175(12), 1218-1226. (Read full article)
    13. Malone Jenkins S, Palmquist R, Kapron AL, Torr C, Best DH, Karren MA, Brunelli L, Yandell M, Tristani-Firouzi M, Dimmock D, Watts B, Botkin JR, Johnson A, Bonkowsky JL (2021). Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program. J Clin Transl Sci, 5(1), e177. (Read full article)
    14. Carmichael SL, Ma C, Witte JS, Yang W, Rasmussen SA, Brunelli L, Nestoridi E, Shaw GM, Feldkamp ML, National Birth Defects Prevention Study (2020). Congenital diaphragmatic hernia and maternal dietary nutrient pathways and diet quality. Birth Defects Res, 112(18), 1475-1483. (Read full article)
    15. Brunelli L, Jenkins SM, Gudgeon JM, Bleyl SB, Miller CE, Tvrdik T, Dames SA, Ostrander B, Daboub JAF, Zielinski BA, Zinkhan EK, Underhill HR, Wilson T, Bonkowsky JL, Yost CC, Botto LD, Jenkins J, Pysher TJ, Bayrak-Toydemir P, Mao R (2019). Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants. Mol Genet Genomic Med, 7(7), e00796. (Read full article)
    16. Matsunami N, Shanmugam H, Baird L, Stevens J, Byrne JL, Barnhart DC, Rau C, Feldkamp ML, Yoder BA, Leppert MF, Yost HJ, Brunelli L (2018). Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia. Birth Defects Res, 110(7), 610-617. (Read full article)
    17. Shanmugam H, Brunelli L, Botto LD, Krikov S, Feldkamp ML (2017). Epidemiology and Prognosis of Congenital Diaphragmatic Hernia: A Population-Based Cohort Study in Utah. Birth Defects Res, 109(18), 1451-1459. (Read full article)
    18. Lyozin GT, Kosaka Y, Bhattacharje G, Yost HJ, Brunelli L (2017). Direct Isolation of Seamless Mutant Bacterial Artificial Chromosomes. Curr Protoc Mol Biol, 118, 8.6.1-8.6.29. (Read full article)
    19. Gittenberger-de Groot AC, Hoppenbrouwers T, Miquerol L, Kosaka Y, Poelmann RE, Wisse LJ, Yost HJ, Jongbloed MR, Deruiter MC, Brunelli L (2016). 14-3-3epsilon controls multiple developmental processes in the mouse heart. Dev Dyn, 245(11), 1107-1123. (Read full article)
    20. Merchant SS, Kosaka Y, Yost HJ, Hsu EW, Brunelli L (2016). Micro-Computed Tomography for the Quantitative 3-Dimensional Assessment of the Compact Myocardium in the Mouse Embryo. Circ J, 80(8), 1795-803. (Read full article)
    21. Lyozin GT, Bressloff PC, Kumar A, Kosaka Y, Demarest BL, Yost HJ, Kuehn MR, Brunelli L (2014). Isolation of rare recombinants without using selectable markers for one-step seamless BAC mutagenesis. Nat Methods, 11(9), 966-970. (Read full article)
    22. Arrington CB, Bleyl SB, Brunelli L, Bowles NE (2013). Family-based studies to identify genetic variants that cause congenital heart defects. Future Cardiol, 9(4), 507-18. (Read full article)
    23. Chang B, Gorbea C, Lezin G, Li L, Shan L, Sakai N, Kogaki S, Otomo T, Okinaga T, Hamaoka A, Yu X, Hata Y, Nishida N, Yost HJ, Bowles NE, Brunelli L, Ichida F (2012). 14-3-3ε gene variants in a Japanese patient with left ventricular noncompaction and hypoplasia of the corpus callosum. Gene, 515(1), 173-80. (Read full article)
    24. Kosaka Y, Cieslik KA, Li L, Lezin G, Maguire CT, Saijoh Y, Toyo-oka K, Gambello MJ, Vatta M, Wynshaw-Boris A, Baldini A, Yost HJ, Brunelli L (2012). 14-3-3ε plays a role in cardiac ventricular compaction by regulating the cardiomyocyte cell cycle. Mol Cell Biol, 32(24), 5089-102. (Read full article)
    25. Arrington CB, Bleyl SB, Matsunami N, Bowles NE, Leppert TI, Demarest BL, Osborne K, Yoder BA, Byrne JL, Schiffman JD, Null DM, DiGeronimo R, Rollins M, Faix R, Comstock J, Camp NJ, Leppert MF, Yost HJ, Brunelli L (2012). A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia. Am J Med Genet A, 158A(12), 3137-47. (Read full article)
    26. Xi Y, Ai T, De Lange E, Li Z, Wu G, Brunelli L, Kyle WB, Turker I, Cheng J, Ackerman MJ, Kimura A, Weiss JN, Qu Z, Kim JJ, Faulkner G, Vatta M (2012). Loss of function of hNav1.5 by a ZASP1 mutation associated with intraventricular conduction disturbances in left ventricular noncompaction. Circ Arrhythm Electrophysiol, 5(5), 1017-26. (Read full article)
    27. Lezin G, Kuehn MR, Brunelli L (2011). Hofmeister series salts enhance purification of plasmid DNA by non-ionic detergents. Biotechnol Bioeng, 108(8), 1872-82. (Read full article)
    28. Lezin G, Kosaka Y, Yost HJ, Kuehn MR, Brunelli L (2011). A one-step miniprep for the isolation of plasmid DNA and lambda phage particles. PLoS One, 6(8), e23457. (Read full article)
    29. Brunelli L, Cieslik KA, Alcorn JL, Vatta M, Baldini A (2007). Peroxisome proliferator-activated receptor-δ upregulates 14-3-3ε in human endothelial cells via CCAAT/enhancer binding protein-β. Circ Res, 100(5). (Read full article)

    Review

    1. Brunelli L, Sohn H, Brower A (2023). Newborn sequencing is only part of the solution for better child health. [Review]. Lancet Reg Health Am, 25, 100581. (Read full article)
    2. Chapman AR, Brunelli L, Forman L, Kaempf J (2023). Promoting children's rights to health and well-being in the United States. [Review]. Lancet Reg Health Am, 25, 100577. (Read full article)

    Book Chapter

    1. Sacotte K, Tomlin B, Judkins A, Brunelli L (2023). Local Factors Affecting Child Health. In Sacotte K|Tomlin B|Judkins A|Brunelli L (Ed.), SpringerBriefs in Public Health (Part F1699, pp. 25-34). (Read full article)
    2. Sacotte K, Tomlin B, Judkins A, Brunelli L (2023). Rethinking Healthcare for Children – Pivot to Human Dignity. In Sacotte K|Tomlin B|Judkins A|Brunelli L (Ed.), SpringerBriefs in Public Health (Part F1699, pp. 13-24). (Read full article)
    3. Sacotte K, Tomlin B, Judkins A, Brunelli L (2023). Children’s Right to Health in the US Child Welfare System: A Case Study. In Sacotte K|Tomlin B|Judkins A|Brunelli L (Ed.), SpringerBriefs in Public Health (Part F1699, pp. 35-51). (Read full article)

    Letter

    1. Kapil S, Fishler KP, Euteneuer JC, Brunelli L (2018). Many newborns in level IV NICUs are eligible for rapid DNA sequencing. [Letter to the editor]. Am J Med Genet A, 179(2), 280-284. (Read full article)
    2. Brunelli L, Mao R, Jenkins SM, Bleyl SB, Dames SA, Miller CE, Ostrander B, Tvrdik T, Andrews S, Flores J, Patel S, Gudgeon JM, Schaefer S (2017). A rapid gene sequencing panel strategy to facilitate precision neonatal medicine. [Letter to the editor]. Am J Med Genet A, 173(7), 1979-1982. (Read full article)

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