Luca Brunelli, MD, PhD

Journal Article

1. Tarrell A, Weber J, Shawar R, Brunelli L, Morelli S, Bayrak-Toydemir P, Doughty E, Akay G, Botto LD, Flemming E, Reading NS, Jaramillo C (2025). A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications. Case Rep Genet, 2025, 9569160. (Read full publication)
2. Kaempf JW, Brunelli L, Vidaeff A, Albersheim S (2025). When Is Intensive Care Warranted for the Most Immature Infants? Jun 3. doi: 10.1055/a-2605-7881. Am J Perinatol. (Read full publication)
3. 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 publication)
4. Mowery A, Wong B, Seale J, Brunelli L (2024). Exploring the Role of Genetic Testing in Decisions to Redirect Care in Critically Ill Infants. . Am J Hosp Palliat Care, doi: 10.1177/10499091241296544, 10499091241296544. (Read full publication)
5. 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 publication)
6. 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 publication)
7. 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 publication)
8. Lantos JD, Brunelli L, Hayeems RZ (2023). Understanding the Clinical Utility of Genome Sequencing in Critically Ill Newborns. J Pediatr, 258, 113438. (Read full publication)
9. 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 publication)
10. 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 publication)
11. 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 publication)
12. 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 publication)
13. 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 publication)
14. 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, Nov;92(5):1364-1369, doi: 10.1038/s41390-022-01965-5. (Read full publication)
15. 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 publication)
16. 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 publication)
17. 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 publication)
18. 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 publication)
19. 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 publication)
20. 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 publication)
21. 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 publication)
22. 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 publication)
23. 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 publication)
24. 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 publication)
25. 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 publication)
26. 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 publication)
27. 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 publication)
28. 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 publication)
29. 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 publication)
30. 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 publication)
31. 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 publication)
32. 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 publication)
33. 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 publication)

Review

1. Mowery A, Brunelli L (2025). The Role of Genetic Testing in Palliative Care Decisions for Critically Ill Newborns. [Review]. Children (Basel), 12(5). (Read full publication)
2. 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 publication)
3. 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 publication)

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 publication)
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 publication)
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 publication)

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 publication)
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 publication)

News

• U of U Hospital Launches Rapid DNA Testing of Critically-Ill Infants for Faster Diagnosis, Better Care