Martin Tristani-Firouzi
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Martin Tristani-Firouzi, MD

Languages spoken: Spanish, English

Clinical Locations

Primary Location

Eccles Primary Children's Outpatient Services

81 N Mario Capecchi Drive
Salt Lake City , UT 84113
801-213-3599
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Primary Children's Hospital

100 N Mario Capecchi Drive
Salt Lake City , UT 84113
801-662-1000
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Martin Tristani-Firouzi, MD is a clinician-scientist at The University of Utah School of Medicine and attends on the inpatient and outpatient services at Primary Children´s Hospital. As a general cardiologist, he sees children with all forms of cardiac disease. His clinical interests include inherited rhythm disturbances and sudden cardiac death. He attends in the Inherited Arrhythmia Clinic at Primary Children’s Hospital. The Inherited Arrhythmia Clinic provides comprehensive, state-of-the-art evaluation, diagnosis, treatment, and long-term follow-up care for patients with inherited arrhythmia syndromes and first-degree relatives of sudden cardiac death. Dr. Tristani-Firouzi has a special interest in attending to the needs of Spanish-speaking population in Utah.

Specialties

Board Certification

National Board of Medical Examiners

Martin Tristani-Firouzi, MD is a clinician-scientist at The University of Utah School of Medicine and attends on the inpatient and outpatient services at Primary Children´s Hospital. As a general cardiologist, he sees children with all forms of cardiac disease. His clinical interests include inherited rhythm disturbances and sudden cardiac death. He attends in the Inherited Arrhythmia Clinic at Primary Children’s Hospital. The Inherited Arrhythmia Clinic provides comprehensive, state-of-the-art evaluation, diagnosis, treatment, and long-term follow-up care for patients with inherited arrhythmia syndromes and first-degree relatives of sudden cardiac death. Dr. Tristani-Firouzi has a special interest in attending to the needs of Spanish-speaking population in Utah.

Board Certification and Academic Information

Academic Departments Pediatrics -Professor
Academic Divisions Cardiology
Board Certification
National Board of Medical Examiners

Education history

Undergraduate Natural Sciences/Chemistry - St. John's University B.S.
Professional Medical Medicine - University of Minnesota M.D.
Internship University of Minnesota Research Intern
Residency Pediatrics - University of Minnesota Resident
Fellowship Pediatric Cardiology - University of Minnesota Fellow
Fellowship Pediatric Cardiology - University of Minnesota Fellow

Selected Publications

Journal Article

  1. Blaufox AD, Tristani-Firouzi M, Seslar S, Sanatani S, Trivedi B, Fischbach P, Paul T, Young ML, Tisma-Dupanovic S, Silva J, Cuneo B, Fournier A, Singh H, Tanel RE, Etheridge S (2012). Congenital long QT 3 in the pediatric population. The American journal of cardiology, 109(10), 1459-65.
  2. Villatoro-Gómez K, Pacheco-Rojas DO, Moreno-Galindo EG, Navarro-Polanco RA, Tristani-Firouzi M, Gazgalis D, Cui M, Sánchez-Chapula JA, Ferrer (2018). Molecular determinants of Kv7.1/KCNE1 channel inhibition by amitriptyline. Biochemical pharmacology, 152, 264-271.
  3. López-Serrano AL, De Jesús-Pérez JJ, Zamora-Cárdenas R, Ferrer T, Rodríguez-Menchaca AA, Tristani-Firouzi M, Moreno-Galindo EG, Navarro-Polanco R (2020). Voltage-induced structural modifications on M2 muscarinic receptor and their functional implications when interacting with the superagonist iperoxo. Biochemical pharmacology, 177, 113961.
  4. Manheimer KB, Patel N, Richter F, Gorham J, Tai AC, Homsy J, Boskovski MT, Parfenov M, Goldmuntz E, Chung WK, Brueckner M, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE, Gelb BD, Sharp A (2018). Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors. Human mutation, 39(6), 870-881.
  5. Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA Jr, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner (2017). Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature genetics, 49(11), 1593-1601.
  6. Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA Jr, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb B (2020). Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nature genetics, 52(8), 769-777.
  7. Pellisson O, Kalaizich L, Ptacek LP, Tristani-Firouzi M, Gonzalez (2007). Flecanide suppresses biventricular tachycardia and reverses tachycardia-induced cardiomyopathy in andersen-Tawil Syndrome. Journal of cardiovascular electrophysiology, 9(3), 162-6.
  8. Pellizzón OA, Kalaizich L, Ptácek LJ, Tristani-Firouzi M, Gonzalez M (2008). Flecainide suppresses bidirectional ventricular tachycardia and reverses tachycardia-induced cardiomyopathy in Andersen-Tawil syndrome. Journal of cardiovascular electrophysiology, 19(1), 95-7.
  9. Seidel T, Navankasattusas S, Ahmad A, Diakos NA, Xu WD, Tristani-Firouzi M, Bonios MJ, Taleb I, Li DY, Selzman CH, Drakos SG, Sachse F (2017). Sheet-Like Remodeling of the Transverse Tubular System in Human Heart Failure Impairs Excitation-Contraction Coupling and Functional Recovery by Mechanical Unloading. Circulation, 135(17), 1632-1645.
  10. Tristani-Firouzi (2015). Revisiting the challenges of universal screening for long QT syndrome. Journal of electrocardiology, 48(6), 1053-7.
  11. Ramroop R, Manase G, Lu D, Manase D, Chen S, Kim R, Lee T, Mahle WT, McHugh K, Mitchell M, Tristani-Firouzi M, Wechsler SB, Wilder NS, Zak V, Lafreniere-Roula M, Newburger JW, Gaynor JW, Russell MW, Mital (2017). Adrenergic receptor genotypes influence postoperative outcomes in infants in the Single-Ventricle Reconstruction Trial. The Journal of thoracic and cardiovascular surgery, 154(5), 1703-1710.e3.
  12. Moreno-Galindo EG, Sanchez-Chapula JA, Tristani-Firouzi M, Navarro-Polanco R (2016). Pharmacological Conversion of a Cardiac Inward Rectifier into an Outward Rectifier Potassium Channel. Molecular pharmacology, 90(3), 334-40.
  13. Salazar-Fajardo PD, Aréchiga-Figueroa IA, López-Serrano AL, Rodriguez-Elias JC, Alamilla J, Sánchez-Chapula JA, Tristani-Firouzi M, Navarro-Polanco RA, Moreno-Galindo E (2018). The voltage-sensitive cardiac M2 muscarinic receptor modulates the inward rectification of the G protein-coupled, ACh-gated K+ current. Pflugers Archiv, 470(12), 1765-1776.
  14. Moreno-Galindo EG, Alamilla J, Sanchez-Chapula JA, Tristani-Firouzi M, Navarro-Polanco R (2016). The agonist-specific voltage dependence of M2 muscarinic receptors modulates the deactivation of the acetylcholine-gated K(+) current (I KACh). Pflugers Archiv, 468(7), 1207-1214.
  15. Arnaout R, Ferrer T, Huisken J. Spitzer EK, Stainier DYR*, Tristani-Firouzi M, * Chi NC (2007). Zebrafish embryonic lethal kcnh2 null: pathologic model for human homozygous long QT2 syndrome. *corresponding author. Proceedings of the National Academy of Sciences of the United States of America, 104(27), 11316-21.
  16. Rodriguez-Menchaca AA, Navarro-Polanco RA, Ferrer-Villada T, Rupp J, Tristani-Firouzi M,* Sanchez-Chapula JA (2008). The structural basis of chloroquine block of the inward rectifier Kir2.1 channel. *corresponding author. Proceedings of the National Academy of Sciences of the United States of America, 105(4), 1364-8.
  17. Ward RM, Drover DR, Hammer GB, Stemland CJ, Kern S, Tristani-Firouzi M, Lugo RA, Satterfield K, Anderson B (2014). The pharmacokinetics of methadone and its metabolites in neonates, infants, and children. Paediatric anaesthesia, 24(6), 591-601.
  18. Jou CJ, Arrington CB, Barnett S, Shen J, Cho S, Sheng X, McCullagh PC, Bowles NE, Pribble CM, Saarel EV, Pilcher TA, Etheridge SP, Tristani-Firouzi (2017). A Functional Assay for Sick Sinus Syndrome Genetic Variants. Cellular physiology and biochemistry, 42(5), 2021-2029.
  19. Lopez-Izquierdo A, Warren M, Riedel M, Cho S, Lai S, Lux RL, Spitzer KW, Benjamin IJ, Tristani-Firouzi M, Jou C (2014). A near-infrared fluorescent voltage-sensitive dye allows for moderate-throughput electrophysiological analyses of human induced pluripotent stem cell-derived cardiomyocytes. American journal of physiology. Heart and circulatory physiology, 307(9), H1370-7.
  20. Pepin ME, Drakos S, Ha CM, Tristani-Firouzi M, Selzman CH, Fang JC, Wende AR, Wever-Pinzon (2019). DNA methylation reprograms cardiac metabolic gene expression in end-stage human heart failure. American journal of physiology. Heart and circulatory physiology, 317(4), H674-H684.
  21. Bayrak CS, Zhang P, Tristani-Firouzi M, Gelb BD, Itan (2020). De novo variants in exomes of congenital heart disease patients identify risk genes and pathways. Genetics in medicine, In Press,
  22. Serrano MLA, Demarest BL, Tone-Pah-Hote T, Tristani-Firouzi M, Yost H (2019). Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome. PLoS biology, 17(9), e3000087.
  23. Bowles NE, Jou CJ, Arrington CB, Kennedy BJ, Earl A, Matsunami N, Meyers LL, Etheridge SP, Saarel EV, Bleyl SB, Yost HJ, Yandell M, Leppert MF, Tristani-Firouzi M, Gruber PJ, Baylor Hopkins Centers for Mendelian Genomics (2015). Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. American journal of medical genetics. Part A, 167A(12), 2975-84.
  24. Airey KJ, Etheridge SP, Tawil R, Tristani-Firouzi (2009). Resuscitated sudden cardiac death in Andersen-Tawil syndrome. Heart rhythm, 6(12), 1814-7.
  25. Martin-Trujillo A, Patel N, Richter F, Jadhav B, Garg P, Morton SU, McKean DM, DePalma SR, Goldmuntz E, Gruber D, Kim R, Newburger JW, Porter GA Jr, Giardini A, Bernstein D, Tristani-Firouzi M, Seidman JG, Seidman CE, Chung WK, Gelb BD, Sharp A (2020). Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. PLoS genetics, 16(11), e1009189.
  26. Moss R, Sachse FB, Moreno-Galindo EG, Navarro-Polanco RA, Tristani-Firouzi M, Seemann (2018). Modeling effects of voltage dependent properties of the cardiac muscarinic receptor on human sinus node function. PLoS computational biology, 14(10), e1006438.
  27. Skarsfeldt MA, Bomholtz SH, Lundegaard PR, Lopez-Izquierdo A, Tristani-Firouzi M, Bentzen B (2018). Atrium-specific ion channels in the zebrafish-A role of IKACh in atrial repolarization. Acta physiologica (Oxford, England), 223(3), e13049.
  28. Shankaran SS, Dahlem TJ, Bisgrove BW, Yost HJ, Tristani-Firouzi (2017). CRISPR/Cas9-Directed Gene Editing for the Generation of Loss-of-Function Mutants in High-Throughput Zebrafish F0 Screens. Current protocols in molecular biology, 119, 31.9.1-31.9.22.
  29. Hsieh A, Morton SU, Willcox JAL, Gorham JM, Tai AC, Qi H, DePalma S, McKean D, Griffin E, Manheimer KB, Bernstein D, Kim RW, Newburger JW, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Brueckner M, Lifton RP, Goldmuntz E, Gelb BD, Chung WK, Seidman CE, Seidman JG, Shen (2020). EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome medicine, 12(1), 42.
  30. Saarel EV, Granger S, Kaltman JR, Minich LL, Tristani-Firouzi M, Kim JJ, Ash K, Tsao SS, Berul CI, Stephenson EA, Gamboa DG, Trachtenberg F, Fischbach P, Vetter VL, Czosek RJ, Johnson TR, Salerno JC, Cain NB, Pass RH, Zeltser I, Silver ES, Kovach JR, Alexander ME, Pediatric Heart Network Investigators* (2018). Electrocardiograms in Healthy North American Children in the Digital Age. Circulation. Arrhythmia and electrophysiology, 11(7), e005808.
  31. Shah RU, Mutharasan RK, Ahmad FS, Rosenblatt AG, Gay HC, Steinberg BA, Yandell M, Tristani-Firouzi M, Klewer J, Mukherjee R, Lloyd-Jones D (2020). Development of a Portable Tool to Identify Patients With Atrial Fibrillation Using Clinical Notes From the Electronic Medical Record. Circulation. Cardiovascular quality and outcomes, 13(10), e006516.
  32. Watkins WS, Hernandez EJ, Wesolowski S, Bisgrove BW, Sunderland RT, Lin E, Lemmon G, Demarest BL, Miller TA, Bernstein D, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Newburger JW, Seidman CE, Shen Y, Yost HJ, Yandell M, Tristani-Firouzi (2019). De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nature communications, 10(1), 4722.
  33. Hateley S, Lopez-Izquierdo A, Jou CJ, Cho S, Schraiber JG, Song S, Maguire CT, Torres N, Riedel M, Bowles NE, Arrington CB, Kennedy BJ, Etheridge SP, Lai S, Pribble C, Meyers L, Lundahl D, Byrnes J, Granka JM, Kauffman CA, Lemmon G, Boyden S, Scott Watkins W, Karren MA, Knight S, Brent Muhlestein J, Carlquist JF, Anderson JL, Chahine KG, Shah KU, Ball CA, Benjamin IJ, Yandell M, Tristani-Firouzi (2021). The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele. Nature communications, 12(1), 6442.
  34. Musfee FI, Agopian AJ, Goldmuntz E, Hakonarson H, Morrow BE, Taylor DM, Tristani-Firouzi M, Watkins WS, Yandell M, Mitchell L (2021). Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects. Genes, 12(5),
  35. Sharma A, Wasson LK, Willcox JA, Morton SU, Gorham JM, DeLaughter DM, Neyazi M, Schmid M, Agarwal R, Jang MY, Toepfer CN, Ward T, Kim Y, Pereira AC, DePalma SR, Tai A, Kim S, Conner D, Bernstein D, Gelb BD, Chung WK, Goldmuntz E, Porter G, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE, Pediatric Cardiac Genomics Consortium (2020). GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm. eLife, 9,
  36. Gakenheimer-Smith L, Meyers L, Lundahl D, Menon SC, Bunch TJ, Sawyer BL, Tristani-Firouzi M, Etheridge S (2021). Expanding the phenotype of CACNA1C mutation disorders. Molecular genetics & genomic medicine, 9(6), e1673.
  37. Riedel M, Jou CJ, Lai S, Lux RL, Moreno AP, Spitzer KW, Christians E, Tristani-Firouzi M, Benjamin I (2014). Functional and pharmacological analysis of cardiomyocytes differentiated from human peripheral blood mononuclear-derived pluripotent stem cells. Stem cell reports, 3(1), 131-41.
  38. Mitzelfelt KA, McDermott-Roe C, Grzybowski MN, Marquez M, Kuo CT, Riedel M, Lai S, Choi MJ, Kolander KD, Helbling D, Dimmock DP, Battle MA, Jou CJ, Tristani-Firouzi M, Verbsky JW, Benjamin IJ, Geurts A (2017). Efficient Precision Genome Editing in iPSCs via Genetic Co-targeting with Selection. Stem cell reports, 8(3), 491-499.
  39. Morton SU, Shimamura A, Newburger PE, Opotowsky AR, Quiat D, Pereira AC, Jin SC, Gurvitz M, Brueckner M, Chung WK, Shen Y, Bernstein D, Gelb BD, Giardini A, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, Seidman C (2021). Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease. JAMA cardiology, 6(4), 457-462.
  40. Edwards JJ, Rouillard AD, Fernandez NF, Wang Z, Lachmann A, Shankaran SS, Bisgrove BW, Demarest B, Turan N, Srivastava D, Bernstein D, Deanfield J, Giardini A, Porter G, Kim R, Roberts AE, Newburger JW, Goldmuntz E, Brueckner M, Lifton RP, Seidman CE, Chung WK, Tristani-Firouzi M, Yost HJ, Ma'ayan A, Gelb B (2020). Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. JACC. Basic to translational science, 5(4), 376-386.
  41. 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 J (2021). Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program. Journal of clinical and translational science, 5(1), e177.
  42. Boskovski MT, Homsy J, Nathan M, Sleeper LA, Morton S, Manheimer KB, Tai A, Gorham J, Lewis M, Swartz M, Alfieris GM, Bacha EA, Karimi M, Meyer D, Nguyen K, Bernstein D, Romano-Adesman A, Porter GA Jr, Goldmuntz E, Chung WK, Srivastava D, Kaltman JR, Tristani-Firouzi M, Lifton R, Roberts AE, Gaynor JW, Gelb BD, Kim R, Seidman JG, Brueckner M, Mayer JE Jr, Newburger JW, Seidman C (2020). De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. Circulation. Genomic and precision medicine, 13(4), e002836.
  43. Morton SU, Pereira AC, Quiat D, Richter F, Kitaygorodsky A, Hagen J, Bernstein D, Brueckner M, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Tristani-Firouzi M, Chung WK, Roberts A, Gelb BD, Shen Y, Newburger JW, Seidman JG, Seidman C (2022). Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity. Circulation. Genomic and precision medicine, 15, CIRCGEN121003500.
  44. 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.
  45. 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 (2022). Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics. Pediatric research,
  46. Pedersen BS, Brown JM, Dashnow H, Wallace AD, Velinder M, Tristani-Firouzi M, Schiffman JD, Tvrdik T, Mao R, Best DH, Bayrak-Toydemir P, Quinlan A (2021). Effective variant filtering and expected candidate variant yield in studies of rare human disease. NPJ genomic medicine, 6(1), 60.
  47. Landstrom AP, Kim JJ, Gelb BD, Helm BM, Kannankeril PJ, Semsarian C, Sturm AC, Tristani-Firouzi M, Ware SM, American Heart Association Council on Genomic and Precision Medicine; Council on Lifelong Congenital Heart Disease and Heart Health in the Young; Council on Arteriosclerosis, Thrombosis and Vascular Biology; and Council on Lifestyle and Cardiometabolic Health (2021). Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association. Circulation. Genomic and precision medicine, 14(5), e000086.
  48. Balderas E, Eberhardt DR, Lee S, Pleinis JM, Sommakia S, Balynas AM, Yin X, Parker MC, Maguire CT, Cho S, Szulik MW, Bakhtina A, Bia RD, Friederich MW, Locke TM, Van Hove JLK, Drakos SG, Sancak Y, Tristani-Firouzi M, Franklin S, Rodan AR, Chaudhuri (2022). Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment. Nature communications, 13(1), 2769.
  49. Weso'owski S, Lemmon G, Hernandez EJ, Henrie A, Miller TA, Weyhrauch D, Puchalski MD, Bray BE, Shah RU, Deshmukh VG, Delaney R, Yostl HJ, Eilbeck K, Tristani-Firouzi M, Yandell (2022). An explainable artificial intelligence approach for predicting cardiovascular outcomes using electronic health records. PLOS digital health, 1(1),
  50. Willcox JAL, Geiger JT, Morton SU, McKean D, Quiat D, Gorham JM, Tai AC, DePalma S, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb B, Porter GA Jr, Seidman JG, Seidman C (2022). Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk. American journal of human genetics, 109(5), 961-966.
  51. Lemmon G, Wesolowski S, Henrie A, Tristani-Firouzi M, Yandell (2021). A Poisson binomial-based statistical testing framework for comorbidity discovery across electronic health record datasets. Nature computational science, 1(10), 694-702.
  52. 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 J (2021). Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program. Journal of clinical and translational science, 5(1), e177.
  53. Shah RA, Chahal CAA, Ranjha S, Dabbagh GS, Asatryan B, Limongelli I, Khanji M, Ricci F, De Paoli F, Zucca S, Tristani-Firouzi M, St Louis EK, So EL, Somers V (2023). Cardiovascular Disease Burden, Mortality and Sudden Death Risk in Epilepsy -- a UK Biobank study. The Canadian journal of cardiology,
  54. Glotzbach JP, Hanson HA, Tonna JE, Horns JJ, McCarty Allen C, Presson AP, Griffin CL, Zak M, Sharma V, Tristani-Firouzi M, Selzman C (2023). Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database. Circulation, 148(8), 637-647.
  55. Zimmerman RM, Hernandez EJ, Watkins WS, Blue N, Tristani-Firouzi M, Yandell M, Steinberg B (2023). An Explainable Artificial Intelligence Approach for Discovering Social Determinants of Health and Risk Interactions for Stroke in Patients With Atrial Fibrillation. The American journal of cardiology, 201, 224-226.
  56. Jang MY, Patel PN, Pereira AC, Willcox JAL, Haghighi A, Tai AC, Ito K, Morton SU, Gorham JM, McKean DM, DePalma SR, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb BD, Porter GA Jr, Seidman CE, Seidman J (2023). Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circulation. Genomic and precision medicine, 16(3), 224-231.
  57. Yu M, Aguirre M, Jia M, Gjoni K, Cordova-Palomera A, Munger C, Amgalan D, Rosa Ma X, Pereira A, Tcheandjieu C, Seidman C, Seidman J, Tristani-Firouzi M, Chung W, Goldmuntz E, Srivastava D, Loos RJF, Chami N, Cordell H, Dreßen M, Mueller-Myhsok B, Lahm H, Krane M, Pollard KS, Engreitz JM, Gagliano Taliun SA, Gelb BD, Priest J (2023). Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes. Circulation. Genomic and precision medicine, 16(3), 258-266.
  58. Miller TA, Hernandez EJ, Gaynor JW, Russell MW, Newburger JW, Chung W, Goldmuntz E, Cnota JF, Zyblewski SC, Mahle WT, Zak V, Ravishankar C, Kaltman JR, McCrindle BW, Clarke S, Votava-Smith JK, Graham EM, Seed M, Rudd N, Bernstein D, Lee TM, Yandell M, Tristani-Firouzi (2023). Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease. Communications medicine, 3(1), 127.
  59. Alexander ME, Gongwer R, Trachtenberg FL, Minich LL, Triedman JK, Kaltman JR, Czosek RJ, Tristani-Firouzi M, LaPage MJ, Tsao SS, Radbill AE, DiLorenzo MP, Kovach JR, Stephenson EA, Janson C, Mao C, Salerno JC, Clark BC, Mahgerefteh J, Pilcher T, Johnson TR, Kim JJ, Valdes SO, Cain N, Jackson L, Saarel EV, Pediatric Heart Network Investigator (2024). Limited Relationship Between Echocardiographic Measures and Electrocardiographic Markers of Left Ventricular Size in Healthy Children. Pediatric cardiology, 45(5), 1055-1063.
  60. Puckelwartz MJ, Pesce LL, Hernandez EJ, Webster G, Dellefave-Castillo LM, Russell MW, Geisler SS, Kearns SD, Karthik F, Etheridge SP, Monroe TO, Pottinger TD, Kannankeril PJ, Shoemaker MB, Fountain D, Roden DM, Faulkner M, MacLeod HM, Burns KM, Yandell M, Tristani-Firouzi M, George AL Jr, McNally E (2024). The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. Genome medicine, 16(1), 13.
  61. Zimmerman RM, Hernandez EJ, Yandell M, Tristani-Firouzi M, Silver RM, Grobman W, Haas D, Saade G, Steller J, Blue N (2024). AI-based analysis of fetal growth restriction in a prospective obstetric cohort quantifies compound risks for perinatal morbidity and mortality and identifies previously unrecognized high risk clinical scenarios. Research square,
  62. May LJ, Stehlik J, Wilkes J, Ou Z, Pinto NM, Cabrera AG, Tristani-Firouzi M, Keenan H (2024). Case Ascertainment in Pediatric Heart Failure Using International Classification of Disease Clinical Modification (ICD-CM) Codes. Pediatric cardiology,
  63. Watkins WS, Hernandez EJ, Miller T, Blue N, Zimmerman R, Griffiths E, Frise E, Bernstein D, Boskovski M, Brueckner M, Chung W, Gaynor JW, Gelb B, Goldmuntz E, Gruber P, Newburger J, Roberts A, Morton S, Mayer J, Seidman C, Seidman J, Shen Y, Wagner M, Yost HJ, Yandell M, Tristani-Firouzi (2024). Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery.
  64. Coca E, Cho S, Kauffman C, Cook AD, Tristani-Firouzi M, Torres N (2024). Environmental Cues Facilitate Maturation and Patterning of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes. Cellular physiology and biochemistry, 58(5), 538-547.
  65. Ladha FA, VanderPluym C, Mondragon-Estrada E, Avillach P, Brueckner M, Chung WK, Cnota JF, Gelb BD, Lewis M, Liu C, Roberts AE, Seidman CE, Tristani-Firouzi M, Wagner M, Morton SU, Newburger JW, Pediatric Cardiac Genomics Consortium Investigator (2026). Prothrombin G20210A and Factor V Leiden Variants Are Not Associated With Thrombotic Events in Congenital Heart Disease: An Observational Trial. Journal of the American Heart Association, e046959.
  66. Baldwin-Brown JG, Wesolowski S, Zimmerman RM, Peterson B, Tristani-Firouzi M, Hernandez EH, Aston KI, Yandell M, Phadnis (2026). Signatures of sex ratio distortion in humans. bioRxiv,
  67. Golden CS, Williams S, Sreerama S, Blankevoort S, Yost HJ, Tristani-Firouzi M, Belkina A, Serrano M (2026). Nuclear Histone 3 Post-Translational Modification Profiling in Whole Cells using Spectral Flow Cytometry. bioRxiv,
  68. Olsen BB, Tristani-Firouzi M, Eilbeck K, Yandell M, Hernandez E (2025). Quantifying lifetime risk for 1,401 infectious diseases across the diabetes spectrum using a Bayesian approach.
  69. Vilaboy T, Wong K, Tristani-Firouzi M, Sandoval Karamian AG, Palmquist (2025). Investigating the frequency of unreported cases and laboratory correspondence practices for variants of uncertain significance in pediatric epilepsy. Epilepsia open, 10(5), 1726-1732.
  70. Peterson B, Juarez EF, Moore B, Hernandez EJ, Frise E, Li J, Lussier Y, Tristani-Firouzi M, Reese MG, Malone Jenkins S, Kingsmore SF, Bainbridge MN, Yandell (2025). MPSE identifies newborns for whole genome sequencing within 48¿h of NICU admission. NPJ genomic medicine, 10(1), 47.
  71. Sierant MC, Jin SC, Bilguvar K, Morton SU, Dong W, Jiang W, Lu Z, Li B, López-Giráldez F, Tikhonova I, Zeng X, Lu Q, Choi J, Zhang J, Nelson-Williams C, Knight JR, Zhao H, Cao J, Mane S, Sedore SC, Gruber PJ, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor JW, King E, Wagner M, Srivastava D, Shen Y, Bernstein D, Porter GA Jr, Newburger JW, Seidman JG, Roberts AE, Yandell M, Yost HJ, Tristani-Firouzi M, Kim R, Chung WK, Gelb BD, Seidman CE, Brueckner M, Lifton R (2025). Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proceedings of the National Academy of Sciences of the United States of America, 122(13), e2420343122.
  72. Dong W, Jin SC, Sierant MC, Lu Z, Li B, Lu Q, Morton SU, Zhang J, López-Giráldez F, Nelson-Williams C, Knight JR, Zhao H, Cao J, Mane S, Gruber PJ, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor JW, Cnota JF, Wagner M, Srivastava D, Bernstein D, Porter GA Jr, Newburger J, Roberts AE, Yandell M, Yost HJ, Tristani-Firouzi M, Kim R, Seidman J, Chung WK, Gelb BD, Seidman CE, Lifton RP, Brueckner (2025). Recessive genetic contribution to congenital heart disease in 5,424 probands. Proceedings of the National Academy of Sciences of the United States of America, 122(10), e2419992122.
  73. Ward T, Morton SU, Venturini G, Tai W, Jang MY, Gorham J, Delaughter D, Wasson LK, Khazal Z, Homsy J, Gelb BD, Chung WK, Bruneau BG, Brueckner M, Tristani-Firouzi M, DePalma SR, Seidman C, Seidman J (2025). Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis. Journal of the American Heart Association, 14(5), e036860.
  74. Mondragon-Estrada E, Newburger JW, DePalma SR, Brueckner M, Cleveland J, Chung WK, Gelb BD, Goldmuntz E, Hagler DJ Jr, Huang H, McQuillen P, Miller TA, Panigrahy A, Porter GA Jr, Roberts AE, Rollins CK, Russell MW, Tristani-Firouzi M, Grant PE, Im K, Morton S (2024). Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. iScience, 28(2), 111707.

Review

  1. Matthews E, Palace J, Ramdas S, Sansone V, Tristani-Firouzi M, Vicart S, Willis (2023). Care Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies. Pediatric neurology, 145, 102-111.
  2. Ebrahim MA, Pham TD, Niu MC, Etheridge SP, Tristani-Firouzi M, Miyake C (2024). Pediatric and Familial Genetic Arrhythmia Syndromes: Evaluation of Bidirectional Ventricular Tachycardia-Differential Diagnosis. Cardiac electrophysiology clinics, 16(2), 203-210.
  3. Niu MC, Etheridge SP, Tristani-Firouzi M, Miyake C (2024). Pediatric and Familial Genetic Arrhythmia Syndromes-Evaluation of Prolonged QTc-Differential Diagnosis and what You Need to Know. Cardiac electrophysiology clinics, 16(2), 195-202.
  4. Zimmerman RM, Hernandez EJ, Tristani-Firouzi M, Yandell M, Steinberg B (2025). Explainable artificial intelligence for stroke risk stratification in atrial fibrillation. European heart journal. Digital health, 6(3), 317-325.

Book Chapter

  1. Tristani-Firouzi M, Archer (1995). Nitric Oxide: Mechanism of Action and Role in Human Pathophysiology. 171-193.
  2. Sanguinetti MC, Tristani-Firouzi (1999). Cardiac Delayed Rectifier K channels in Normal and Abnormal Cardiac Repolarization. 46, 85-101.
  3. Tristani-Firouzi M, Kamamga-Sollo EIP, Sun S, Rocchini AP, Mathur A, Jyonouchi (1995). Kawasaki Syndrome: T-Cell Receptor Variable Beta Gene Family Repertoire and Humoral Immunity in Kawasaki Syndrome. 200-205.
  4. Tristani-Firouzi M, Sanguinett M (2000). Delayed and Inward Rectifier Potassium Channels. 79-86.

Case Report

  1. Sawyer BL, Tristani-Firouzi M, Wells LE, Vatta M, Etheridge S (2020). Maternal mosaicism in long QT syndrome due to a pathogenic variant in KCNH2. HeartRhythm case reports, 7(2), 74-78.
  2. Ebrahim MA, Pham TD, Niu MC, Etheridge SP, Tristani-Firouzi M, Miyake C (2026). Pediatric and Familial Genetic Arrhythmia Syndromes: Evaluation of Bidirectional Ventricular Tachycardia-Differential Diagnosis. Heart failure clinics, 22(1), 89-96.

Newspaper

  1. Sable C, Li JS, Tristani-Firouzi M, Fagerlin A, Silver RM, Yandel M, Yost HJ, Beaton A, Dale J, Engel M, Watkins D, Spurney C, Skinner AC, Armstrong SC, Shah SH, Allen N, Davis M, Hou L, Van Horn L, Labarthe D, Lloyd-Jones D, Marino (2023). American Heart Association's Children's Strategically Focused Research Network Experience. Journal of the American Heart Association, 12(7), e028356.

Other

  1. Kannankeril PJ, Shoemaker MB, Fountain D, Roden DM, Yandell M, Tristani-Firouzi M, Etheridge SP, Webster G, George AL, McNally EM, MacLeod H, Burns K (2022). Family Screening After Sudden Death in a Population-Based Study of Children. Pediatrics, 149(4),
  2. Balderas E, Eberhardt DR, Lee S, Pleinis JM, Sommakia S, Balynas AM, Yin X, Parker MC, Maguire CT, Cho S, Szulik MW, Bakhtina A, Bia RD, Friederich MW, Locke TM, Van Hove JLK, Drakos SG, Sancak Y, Tristani-Firouzi M, Franklin S, Rodan AR, Chaudhuri (2022). Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment. Nature communications, 13(1), 3532.

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