Publications

Selected Publications:

A full list of publications can be found on PubMed.  

  1. Topriceanu CC, Balakrishnan ID, Vissing CR, Raja AA, Parikh VN, Zwetsloot PP, Michels M, Argiro A, Maurizi N, Stendahl JC, Lampert R, Marine JE, Ware JS, Rossano JW, Owens A, Lin KY, Ryan TD, Abrams DJ, Ingles J, Gray B, Moon JC, Captur G, Crotti L, Saberi S, Helms AS, Day SM, Olivotto I, Bundgaard H, Lakdawala NK, Ho CY. Natural History of Asymptomatic Phenotypically Mild HCM: Insights From the SHaRe Registry. J Am Coll Cardiol. 2026 Jul 8:S0735-1097(26)06419-3. 

  2. Perotto M, Radesich C, Paldino A, Gandin I, Verdonschot JAJ, Kim Y, Balakrishnan ID, Stroekes S, Medo K, Gigli M, Lenarduzzi S, Girotto G, Claggett B, Ammirati E, Barison A, Bertero E, Biagini E, Canepa M, Carugo S, Day S, Ditaranto R, Faggiano A, Fornaro A, Forleo C, Gentile P, Guaricci AI, Helms AS, Ho CY, Iascone M, Iorio A, Khan SS, Lin K, Mestroni L, Olivotto I, Owens A, Ribichini FL, Rossano J, Shore S, Setti M, Wheeler M, Taylor MRG, Wilsbacher L, Tayal U, Parikh VN, Heymans S, Prasad S; Italian TTN Consortium and DCM/AC SHaRe Consortium; Sinagra G, Merlo M, Lakdawala NK, Dal Ferro M. Variant Site-Specific Natural History of Titin-Induced Cardiomyopathy: An International Multicenter Registry. Circ Genom Precis Med. 2026 Jul 8 Epub ahead of print. 

  3. Stroeks SLVM, Bart NK, Rossano J, Claggett B, Beelen NJ, Buchan RJ, Day S, Fornaro A, Halliday BP, Wheeler MT, Hammersley DJ, Helms A, Heymans ABM, Ho CY, Khan SS, Lin K, Lota A, Merlo M, Mestroni L, Olivotto I, Owens A, Seidman CE, Shore S, Sinnette C, Sinagra G, Stevenson LW, Stewart GC, Theotakis P, Venner MFGHM, Ware JS, Taylor MRG, Verdonschot JAJ, Wilsbacher L, Prasad S, Heymans SR, Parikh VN, Tayal U, Lakdawala NK; DCM/ACM SHaRe Investigators. Sex and Age Specific Genetic Risk Across the Dilated and Arrhythmogenic Cardiomyopathy Spectrum: Insights From the SHaRe Registry. J Am Coll Cardiol. 2026 Jun 30;87(25):3573-3588. 

  4. Edelson JB, Baker-Smith CM, Cifra B, Cousino M, Day SM, Drezner JA, Dubin AM, Gates C, White DA, Conway J; Pediatric Heart Failure and Transplantation Committee of the Council on Lifelong Congenital Heart Disease and Heart Health in the Young; Council on Clinical Cardiology; Council on Lifestyle and Cardiometabolic Health; and Council on Cardiovascular and Stroke Nursing. Physical Activity in Pediatric Cardiomyopathies: Moving for Health: A Scientific Statement From the American Heart Association. Circulation. 2026 May 26;153(21)

  5. Przybylski R, Norrish G, Claggett B, Ashley EA, Bhole V, Day SM, Delle Donne G, Fernandez A, Girolami F, Gray B, Helms AS, Ingles J, Kubus P, Lakdawala NK, Lampert RJ, Lin KY, Michels M, Miller E, Olivotto I, Owens A, Parikh VN, Passantino S, Radulescu CR, Rossano J, Russell MW, Ryan TD, Saberi S, Spentzou G, Stendahl JC, Ware JS, Weintraub RG, Ziolkowska L, Zwetsloot PP, Kaski JP, Ho CY, Abrams DJ; SHaRe and IPHCC Investigators. The Natural History of Massive Left Ventricular Hypertrophy in Pediatric Hypertrophic Cardiomyopathy: A Multiregistry Analysis. Circulation. 2026 May 12;153(19):1463-1476. 

  6. Floyd BJ, Njoroge JN, Krysov VA, Gomes B, Murtha R, Aribeana C, Cannie D, Smith E, Paldino A, Brown EE, Barth A, Ilhan E, Johnson R, Wojciak J, Alkhayat M, Graw S, Medo K, Haas J, Chahal CAA, Fenzl K, Steinmetz L, Gollob M, Ashley E, Day S, Judge D, Roberts JD, Vedantham V, Mao CY, Fatkin D, Lakdawala NK, Taylor MRG, Mestroni L, Saguner AM, Tayal U, Cadrin-Tourigny J, Krahn AD, James C, Dal Ferro M, Sinagra G, Merlo M, Owens A, Reza N, Saberi S, Helms A, Elliott P, Meder B, Lancaster M, Parikh VN. RBM20 Truncating Variants and Human Cardiomyopathy. JAMA Cardiol. 2026 May 1;11(5):439-445. 

  7. Branscom GA, Morley MP, Herrera JJ, Yob JM, Day SM. Long non-coding RNA profiling of hypertrophic cardiomyopathy in mice. Sci Data. 2026 Apr 6;13(1):823. 

  8. Vissing CR, Axelsson Raja A, Helms AS, Saberi S, Owens AT, Rossano JW, Abrams DJ, Ingles J, Gray B, Lampert R, Stendahl JC, Lakdawala NK, Ware JS, Parikh VN, Michels M, Crotti L, Ryan TD, Olivotto I, Day SM, Bundgaard H, Claggett BL, Ho CY. Differences in Disease Trajectory, Comorbidities, and Mortality in Sarcomeric and Nonsarcomeric Hypertrophic Cardiomyopathy. Circulation. 2026 Apr 14;153(15):1104-1116. 

  9. Wei EQ, Beyer M, Brown KJ, Bansbach AJ, Gorham JM, McDonough B, Chen H, Khoramjoo M, Zhang A, Bishop B, Ahmad F, Del Rio C, Chang CP, Ryba DM, Day SM, Fatkin D, Oudit GY, Seidman CE, Seidman JG. Deep-learning analysis of 3D microarchitectural remodeling in hypertrophic cardiomyopathy. Science. 2026 Jan 15;391(6782)

  10. Hafeez N, Claggett BL, Owens AT, Helms AS, Saberi S, Lampert R, Stendahl JC, Ashley EA, Parikh VN, Lakdawala NK, Ingles J, Olivotto I, Ho CY, Taylor MR, Khan SS, Day SM. Social Determinants of Health and Clinical Outcomes in Hypertrophic Cardiomyopathy. JAMA Cardiol. 2026 Feb 1;11(2):165-174

  11. Abramowitz SA, Hoffman-Andrews L, Zhang D, Judy R, Cappola TP, Day SM, Reza N, Owens AT, Damrauer SM, Levin MG; Penn Medicine BioBank. Polygenic Background and Penetrance of Pathogenic Variants in Hypertrophic and Dilated Cardiomyopathies. JAMA Cardiol. 2026 Feb 1;11(2):147-155. 

  12. Lerman JB, Koeberl DD, Epstein S, Roessig L, Stan R, Halley M, Owens AT, Greenberg B, Alexander KM, Day SM, Maurer MS, Adler ED, Hernandez AF, Ashley EA, Felker GM. Developing therapeutics for rare cardiovascular diseases. Am Heart J. 2026 Feb;292:107272.

  13. Lindholm ME, Abramowitz S, Waggott DM, Grove ME, Dewey FE, Pan C, Pavlovic A, Shang C, Huang Y, Bensabath L, Goldfeder RL, Cordero P, Erbilgin A, Priest JR, Chaib H, Puckelwartz MJ, Day SM, McNally EM, Cappola T, Dorn GW, Ashley EA, Wheeler MT. Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling. Front Cardiovasc Med. 2025 Jul 28;12:1546493.

  14. Khan SS, Castillo LM, Day SM. Prognostic Implications of Type and Location of LMNA Cardiomyopathy Genetic Variants. JAMA Cardiol. 2025 Sep 1;10(9):871-873. 

  15. Sikand N, Stendahl J, Sen S, Lampert R, Day S. Current management of hypertrophic cardiomyopathy. BMJ. 2025 May 27;389

  16. Topriceanu CC, Vissing CR, Axelsson Raja A, Day SM, Russell MW, Zahka K, Pereira AC, Colan SD, Murphy AM, Canter C, Bach RG, Wheeler MT, Rossano JW, Owens AT, Mestroni L, Taylor MRG, Moon JC, Captur G, Patel AR, Wilmot I, Soslow JH, Becker JR, Seidman CE, Lakdawala NK, Bundgaard H, Tahir UA, Ho CY. Proteomic Analysis of Valsartan for Attenuating Disease Evolution in Early Sarcomeric Hypertrophic Cardiomyopathy (VANISH) Clinical Trial. Circ Heart Fail. 2025 Jun;18(6)

  17. Anderson OG, Cappola TP, Day SM. Genetic Testing in Early-Onset Atrial Fibrillation. JAMA Cardiol. 2025 Jun 1;10(6):533-534. 

  18. Ostrominski JW, Claggett BL, Jerosch-Herold M, Raja AA, Day SM, Russell MW, Zahka K, Pereira AC, Colan SD, Murphy AM, Canter C, Bach RG, Wheeler MT, Rossano JW, Owens AT, Mestroni L, Taylor MRG, Patel AR, Wilmot I, Soslow JH, Becker JR, Lakdawala NK, Bundgaard H, Vargas JD, Ho CY; Valsartan for Attenuating Disease Evolution in Early Sarcomeric Hypertrophic Cardiomyopathy (VANISH) Investigators. Valsartan and Cardiac Remodeling in Early-Stage Hypertrophic Cardiomyopathy: The VANISH Randomized Clinical Trial Cardiac Magnetic Resonance Substudy. JAMA Cardiol. 2025 Jun 1;10(6):617-623. 

  19. Butters A, Thomson K, Harrington F, Henden N, McGuire K, Byrne AB, Bryen S, McGurk KA, Leask M, Ackerman MJ, Atherton J, Bos JM, Caleshu C, Day SM, Dunn K, Hayes I, Juang J, McGaughran J, Nowak N, Parikh VN, Ronan A, Semsarian C, Tardiff JC, Tiemensma M, Merriman TR, Ware JS, Skinner JR, MacArthur DG, Siggs OM, Bagnall RD, Ingles J. A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets. Eur Heart J. 2025 Apr 15;46(15):1446-1449. 

  20. Parikh VN, Day SM, Lakdawala NK, Adler ED, Olivotto I, Seidman CE, Ho CY. Advances in the study and treatment of genetic cardiomyopathies. Cell. 2025 Feb 20;188(4):901-918

  21. Kim JH, Baggish AL, Levine BD, Ackerman MJ, Day SM, Dineen EH, Guseh JS 2nd, La Gerche A, Lampert R, Martinez MW, Papadakis M, Phelan DM, Shafer KM; American Heart Association Leadership Committee of the Council on Clinical Cardiology; Council on Basic Cardiovascular Sciences; Council on Cardiovascular and Stroke Nursing; Council on Cardiovascular Surgery and Anesthesia; Council on Peripheral Vascular Disease; and American College of Cardiology. Clinical Considerations for Competitive Sports Participation for Athletes With Cardiovascular Abnormalities: A Scientific Statement From the American Heart Association and American College of Cardiology. Circulation. 2025 Mar 18;151(11)

  22. Butters A, Arnott C, Sweeting J, Claggett B, Cuomo AS, Abrams D, Ashley EA, Day SM, Helms AS, Lampert R, Lin KY, Michels M, Miller EM, Olivotto I, Owens A, Parikh VN, Pereira AC, Rossano JW, Ryan TD, Saberi S, Stendahl JC, Ware JS, Atherton J, Semsarian C, Lakdawala NK, Ho CY, Ingles J. Sex-Specific Clinical and Genetic Factors Associated With Adverse Outcomes in Hypertrophic Cardiomyopathy. Circ Genom Precis Med. 2025 Feb;18(1)

  23. Meisner JK, Renberg A, Smith ED, Tsan YC, Elder B, Bullard A, Merritt OL, Zheng SL, Lakdawala NK, Owens AT, Ryan TD, Miller EM, Rossano JW, Lin KY, Claggett BL, Ashley EA, Michels M, Lampert R, Stendahl JC, Abrams D, Semsarian C, Parikh VN, Wheeler MT, Ingles J, Olivotto I, Day SM, Saberi S, Russell MW, Previs M, Ho CY, Ware JS, Helms AS. Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy. Circulation. 2025 Mar 18;151(11):783-798. 

  24. Choe D, Burke M, Brandimarto JA, Marti-Pamies I, Yob J, Yang Y, Morley MP, Drivas TG, Day S, Levin M, Damrauer S, Wang X, Cappola TP. Sex-Specific Effects of MTSS1 Downregulation on Dilated Cardiomyopathy. Circulation. 2024 Nov 12;150(20):1648-1651.

  25. Ahluwalia M, Liu J, Olivotto I, Parikh V, Ashley EA, Michels M, Ingles J, Lampert R, Stendahl JC, Colan SD, Abrams D, Pereira AC, Rossano JW, Ryan TD, Owens AT, Ware JS, Saberi S, Helms AS, Day S, Claggett B, Ho CY, Lakdawala NK. The Clinical Trajectory of NYHA Functional Class I Patients With Obstructive Hypertrophic Cardiomyopathy. JACC Heart Fail. 2025 Feb;13(2):332-343. 

  26. Li Q, Homilius M, Achilles E, Massey LK, Convey V, Ohlsson Å, Ljungvall I, Häggström J, Boler BV, Steiner P, Day S, MacRae CA, Oyama MA. Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy. ESC Heart Fail. 2025 Apr;12(2):1256-1270. 

  27. Day SM. Centennial Collection: Hypertrophic Cardiomyopathy. Circulation. 2024 Oct 29;150(18):1395-1397. 

  28. Maurizi N, Antiochos P, Owens A, Lakdawala N, Saberi S, Russell MW, Fumagalli C, Skalidis I, Lin KY, Nathan AS, De Feria Alsina A, Reza N, Stendahl JC, Abrams D, Semsarian C, Clagget B, Lampert R, Wheeler M, Parikh VN, Ashley E, Michels M, Rossano J, Ryan TD, Ingles J, Ware J, Ho CY, Helms AS, Day SM, Olivotto I. Long-Term Outcomes After Septal Reduction Therapies in Obstructive Hypertrophic Cardiomyopathy: Insights From the SHARE Registry. Circulation. 2024 Oct 22;150(17):1377-1390. 

  29. Navar AM, Khan SS, Patton KK, Day SM, Mehran R. The Urgent Need to Improve Outcomes for Pregnant Cardiovascular Trainees. JAMA Cardiol. 2024 Oct 1;9(10):869-870.

  30. Ireland CG, Burstein DS, Day SM, Axelsson Raja A, Russell MW, Zahka KG, Pereira A, Canter CE, Bach RG, Wheeler MT, Rossano JW, Owens AT, Bundgaard H, Mestroni L, Taylor MRG, Patel AR, Wilmot I, Soslow JH, Becker JR, Giverts I, Orav EJ, Claggett B, Lin KY, Ho CY. Quality of Life and Exercise Capacity in Early Stage and Subclinical Hypertrophic Cardiomyopathy: A Secondary Analysis of the VANISH Trial. Circ Heart Fail. 2024 Aug;17(8)

  31. Lampert R, Day S, Ainsworth B, Burg M, Marino BS, Salberg L, Tome Esteban MT, Abrams DJ, Aziz PF, Barth C, Behr ER, Bell C, Berul CI, Bos JM, Bradley D, Cannom DS, Cannon BC, Concannon MA, Cerrone M, Czosek RJ, Dubin AM, Dziura J, Erickson CC, Estes NAM 3rd, Etheridge SP, Goldenberg I, Gray B, Haglund-Turnquist C, Harmon K, James CA, Johnsrude C, Kannankeril P, Lara A, Law IH, Li F, Link MS, Molossi SM, Olshansky B, Noseworthy PA, Saarel EV, Sanatani S, Shah M, Simone L, Skinner J, Tomaselli GF, Ware JS, Webster G, Zareba W, Zipes DP, Ackerman MJ. Vigorous Exercise in Patients With Congenital Long QT Syndrome: Results of the Prospective, Observational, Multinational LIVE-LQTS Study. Circulation. 2024 Aug 13;150(7):516-530. 

  32. Ommen SR, Ho CY, Asif IM, Balaji S, Burke MA, Day SM, Dearani JA, Epps KC, Evanovich L, Ferrari VA, Joglar JA, Khan SS, Kim JJ, Kittleson MM, Krittanawong C, Martinez MW, Mital S, Naidu SS, Saberi S, Semsarian C, Times S, Waldman CB; Peer Review Committee Members. 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2024 Jun 4;149(23)

  33. Herrera JJ, McAllister CM, Szczesniak D, Goddard RC, Day SM. High-intensity exercise training using a rotarod instrument (RotaHIIT) significantly improves exercise capacity in mice. Physiol Rep. 2024 May;12(9):e15997. 

  34. Day SM. What's VAT All About-The Clue Is in the Genetics. JAMA Cardiol. 2024 May 1;9(5):427. 

  35. Martinez MW, Ackerman MJ, Annas GJ, Baggish AL, Day SM, Harmon KG, Kim JH, Levine BD, Putukian M, Lampert R. Sports Participation by Athletes With Cardiovascular Disease. J Am Coll Cardiol. 2024 Feb 27;83(8):865-868. 

  36. Natarajan P, Day SM. Complex Genetic Architecture of Spontaneous Coronary Artery Dissection. JAMA Cardiol. 2024 Mar 1;9(3):262. 

  37. Khan SS, Day SM. Precision Medicine for Hypertensive Disorders of Pregnancy-Are We There Yet? JAMA Cardiol. 2024 Mar 1;9(3):220-221.

  38. Thompson AD, Wagner MJ, Rodriguez J, Malhotra A, Roest SV, Lilienthal U, Shao H, Yob JM, Prosser BL, Helms AS, Gestwicki JE, Ginsburg D, Day SM. : An unbiased screen identified the Hsp70-BAG3 complex as a regulator of myosin binding protein C3 stability.  JACC BTS, Aug 2023, 8(9):1198-1211, PMCID:  PMC10544073

  39. Vissing CR, Axelsson AR, Day SM, Russell MW, Zahka K, Lever HM, Pereira AC, Colan SD, Margossion R, Murphy AM, Canter C, Bach RG, Wheeler MT, Rossaano JW, Owens AT, Benson L, Mestroni L, Taylor MRG, Patel AR, Wilmot I, Thrush P, Soslow JH, Becker JR, Seidman CE, Lakdawala NK, Cirino AL, McMurray JJV, MacRae CA, Solomon SD, Bundgaard H, Orav J, Ho CY: Cardiac Remodeling in Subclinical Hypertrophic Cardiomyopathy - Insights from the VANISH Randomized Clinical Trial.  JAMA Cardiology September 2023 Notes: doi:10.1001/jamacardio.2023.2808

  40. Alaiwi SA, Roston TM, Marstrand P, Claggett BL, Parikh VN, Helms AS, Ingles J, Lampert R. Lakdawara NK, Michels M, Owens AT, Rossano JW, Saberi S, Abrams DJ, Ashley EA, Semsarian C, Stendahl JC, Ware JS, Miller E. Ryan TD, Russell MW, Day SM, Olivotto I, Vissing CR, Ho CY. : Left Ventricular Systolic Dysfunction in Patients Diagnosed with Hypertrophic Cardiomyopathy During Childhood: Insights from the SHaRe Registry.  Circulation 148(5): 394-404, August 2023

  41. Moulson N, Petek BJ, Ackerman NJ, Churchill TW, Day SM, Kim JH, LKliethermes SA, Lampert R, Levine BD, Martinez MW, Patel MR, Phelan D, Harmon KG, Baggish AL, Drezner JA. : Rationale and Design of the ORCCA (Outcomes Registry for Cardiac Conditions in Athletes) Study. Journ Amer Heart Assoc 12(11): e029052, June 2023

  42. Lampert R, Ackerman MJ, Marino BS, Burg M, Ainsworth B, Salberg L, Tome Esteban M, Ho CY, Abraham R, Balaji S, Barth C, Berul C, Bos M, Cannom D, Choudhury L, Concannon M, Cooper R, Czosek RJ, Dubin AM, Dziura J, Eidem B, Emery MS, Estes M, Etheridge SP, Geske JB, Gray B, Hall K, Harmon KG, James CA, Lal AK, Law IH, Li F, Link MS, McKenna WJ, Molossi S, Olshansky B, Ommen SR, Saarel EV, Saberi S, Simone L, Tomaselli G, Ware JS, Zipes DP, Day SM, for the LIVE Consortium: Vigorous Exercise in Patients with Hypertrophic Cardiomyopathy. JAMA Cardiology 8(6): 595-605, June 2023

  43. Kim Y. Mastali M, Van Eyk JE, Orav EJ, Vissing SR, Day SM, Axelsson RA, Russell MW, Zahka K, Lever HM, Pereira AC, Murphy AM, Canter C, Bach RG, Wheeler MT, Rossano JW, Owens AT, Byundgaard H, benson L, Mestroni L, Taylor MRG, Patel AR, Wilmot I, Thrush P, Soslow JH, Becker JR, Seidman CE, Ho CY. VANISH Investigators: Transforming Growth Factor-Beta Analysis of the VANISH Trial Cohort. Circ Heart Failure 16(4): e010314, April 2023

  44. Herrera JJ, Pifer K, Louzon S, Leander D, Fiehn O, Day SM, Miller RA, Garratt M: Early or Late-life treatment with acarbose or rapamycin improves physical performance and affects cardiac structure in aging mice.  J Gerontology A Biol Sci Med Sci 78(3): 397-406, March 2023

  45. Levin M, Tsao N, Singhal P, Liu C, Vy HM, Paranjpe I, Backman J, Bellomo T, Bone W, Biddinger K, Hui Q, Dikilitas O, Satterfield B, Yang Y, Morley M, Bradford, Y, Burke M, Reza N, Charest B, Regeneron Genetic Center Consortium, Judy R, Puckelwartz M, Hakonarson H, Khan A, Kottyan L, Kullo I, Luo Y, McNally E, Rasmussen-Torvik L, Day SM, Do R, Phillips L, Ellinor P, Nadkarni G, Ritchie M, Arany Z, Cappola T, Margulies K, Aragam K, Haggerty C, Joseph J, Sun Y, Voight B, Damrauer S: Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.  Nat Comm 13(1): 6914, November 2022

  46. Gimeno JR, Olivotto I, Rodríguez AI, Ho CY, Fernández A, Quiroga A, Espinosa MA, Gómez-González C, Robledo M, Tojal-Sierra L, Day SM, Owens A, Barriales-Villa R, Larrañaga JM, Rodríguez-Palomares J, González-Del-Hoyo M, Piqueras-Flores J, Reza N, Chumakova O, Ashley EA, Parikh V, Wheeler M, Jacoby D, Pereira AC, Saberi S, Helms AS, Villacorta E, Gallego-Delgado M, de Castro D, Domínguez F, Ripoll-Vera T, Zorio-Grima E, Sánchez-Martínez JC, García-Álvarez A, Arbelo E, Mogollón MV, Fuentes-Cañamero ME, Grande E, Peña C, Monserrat L, Lakdawala NK; Dilema International Cardiomyopathy and Heart Failure Registry and international SHaRe (Sarcomeric Human Cardiomyopathy Registry) Investigators group.: Impact of SARS-Cov-2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry. ESC Heart Failure 9(4): 2189-2198, August 2022

  47. Guo AH, Baliira R, Skinner ME, Kumar S, Andren A, Zhang L, Goldsmith RS, Michan S, Davis NJ, Maccani MW, Day SM, Sinclair DA, Brody MJ, Lyssiotis CA, Stein AB, Lombard DB: Sirtuin 5 levels are limiting in preserving cardiac function and suppressing fibrosis in response to pressure overload. Sci Reports 12(1): 12258, July 2022

  48. Previs MJ, O'Leary TS, Morley MP, Palmer B, LeWinter M, Yob J, Pagani FD, Petucci C, Kim MS, Margulies KB, Arany Z, Delly DP, Day SM: Defects in the Proteome and Metabolome in Human Hypertrophic Cardiomyopathy. Circulation HF 15(6): e009521, May 2022

  49. Park J, Packard EA, Levin MG, Judy RL, Regeneron Genetics Center, Damrauer SM, Day SM, Ritchie MD, Rader DJ. : A Genome First Approach to Rare Variants in Hypertrophic Cardiomyopathy Genes MYBPC3 and MYH7 in a medical biobank. Hum Mol Genetics 31(5): 827-837, March 2022

  50. Norrish G, Qu C, Field E. Cervi E, Khraiche D. Klaassen S, Ojala TH, Sinagra G, Yamazawa H, Marrone C, Popoiu A, Centeno F. Schouvey S, Olivotto I, Day SM, Colan S, Rossano J, Wittekind SG, Saberi S, Russell M, Helms A, Ingles J, Semsarain C, Elliott PM, Ho CY, Omar RZ, Kaski JP: External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy. Eur J Prev Cardiol  29(4): 678-686, March 2022

  51. Sahu I, Mali SM, Sulkshane P, Rozenberg A, Xu C, Morag R, Sahoo MP, Singh SK, Ding Z, Wang Y, Day SM, Cong Y, Kleifeld O, Brik A, Glickman MH: The 20S as a stand-alone proteasome in cells can degrade the ubiquitin tag. Nature Communications 12: 6173, Oct 2021.

  52. Ho CY, Day SM, Axelsson A, Russell MW, Zahka K, Lever HM, Pereira AC, Colan SD, Margossian R, Murphy AM, Canter C, Bach RGB, Wheeler MT, Rossano JW, Owens AT, Bundgaard H, Benson L, Mestroni L, Taylor MR, Patel AR, Wilmot I, Thrush P, Vargas JD, Soslow JH, Becker JR, Seidman CE, Lakdawala NK, Cirino AL, Burns KM, McMurray JJV, MacRae CA, Solomon SD, Orav EJ, Braunwald E. Valsartan in Early Stage Hypertrophic Cardiomyopathy: A Randomized Phase 2 Trial. Nature Medicine 2021, doi.org/10.1038/s41591-021-01505-4

  53. Park J, Packard EA, Levin MG, Judy RL, Regeneron Genetics Center, Damrauer SM, Day SM, Ritchie MD, Rader DJ. A Genome First Approach to Rare Variants in Hypertrophic Cardiomyopathy Genes MYBPC3 and MYH7 in a medical biobank. Hum Mol Genetics 2021 Sept 20. Doi:10.1093/hmg/ddab249

  54. Owens A, Day SM. Reappraising Genes for Dilated Cardiomyopathy – Stepping Back to Move Forward. Circulation 2021 Jul 6;144(1):20-22

  55. Limongelli G, Monda E, D’Aponte A, Caiazza M, Rubino M, Espositio A, Palmiero G, Moscarella E, Messina G, Calabro P, Scudiero O, Pacileo G, Monda M, Bossone E, Day SM, Olivotto I.  Combined Effect of Mediterranean Diet and Aerobic Exercise on Weight Loss and Clinical Status in Obese Symptomatic Patients with Hypertrophic Cardiomyopathy. Heart Fail Clinics. 2021 Apr;17(2):303-313.

  56. Marston NA, Han L, Olivotto I, Day SM, Ashley EA, Michels M, Pereira AC, Ingles J, Semsarian C, Jacoby D, Colan SD, Rossano JW, Wittekind SG, Ware JS, Saberi S, Helms AS, Ho CY. Clinical Characteristics and Outcomes of Childhood-Onset Hypertrophic Cardiomyopathy. European Heart Journal 2021 May 21, 42 (20):ehab148. doi: 10.1093/eurheartj/ehab148

  57. Puckelwartz MJ, Pesce LL, Dellefave-Castillo LM, Wheeler MT, Pottinger TD, Robinson AC, Kearns SD, Gacitga AM, Schoppen ZJ, Pan W, Kim G, Wilcox JE, Anderson AS, Ashley EA, Day SM, Cappola T, Dorn GW, McNally EM. Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy. Journal of the American Heart Association 2021 Mar 25:e019944. doi: 10.1161/JAHA.120.019944

  58. Thompson AD, Helms AS, Kannan A, Yob U, Lakdawalla NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Mazzarotto F, Olivotto I, Ho CY, Day SM. Computational prediction of protein subdomain stability as a novel approach to MYBPC3 variant interpretation and clinical risk stratification in hypertrophic cardiomyopathy. Genetics in Medicine. March 29, 2021.  

  59.  Lakdawalla N, Olivotto I, Day SM, Han L, Ashley EA, Michels M, Ingles J, Semsarian C, Jacoby J, Jefferies JL, Colan SD, Pereira AC, Rossano JW, Wittekind S, Ware JS, Saberi S, Helms AS, Cirino AL, Leinwand LA, Seidman CE, Ho CY. Associations between female sex, sarcomere variants and clinical outcomes in hypertrophic cardiomyopathy, Circulation: Genomics and Precision Medicine 2020 Dec 7. Doi: 10.1161/CIRCGEN 120.003062

  60. Canepa M, Fumagalli C, Tini G, Vincent Tompkins J, Day SM, Ashley EA, Mazzarotto F, Ware JS, Michels M, Jacoby D, Ho CY, Olivotto I. Temporal trend of age at diagnosis in hypertrophic cardiomyopathy: an analysis of the international SHaRe Registry, Circulation: Heart Failure 2020, doi:10.1161/CIRCHEARTFAILURE.120.007230

  61. Herrera J, Louzon S, Pifer K, Leannder D, Merrihew G, Park JH, Szczesniak K, Whitson J, Wilkinson JE, Fiehn O, MacCoss MJ, Day SM, Miller RA, Garratt M. Acarbose has pronounced sex dependent and independent effects on age-related physical function, cardiac health and lipid biology, JCI Insight, September 2020.

  62. Helms AS, Thompson AD, Glazier AA, Hafeez H, Kabani S, Rodriguez J, Yob JM. Woolcock H, Lakdawal HK, Wittekind WG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Olivotto I, Ho CY, Day SM. Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients with Hypertrophic Cardiomyopathy. Circulation: Genomics and Precision Medicine 2020, doi: 10.1161/CIRCGEN.120.002929

  63. Musunuru K, Hershberger RE, Day SM, Klinedinst J, Landstrom A, Parikh VN, Prakash S, Semsarian C, Sturm AC. Genetic Testing for Inherited Cardiovascular Diseases. Circulation: Genomic and Precision Medicine 2020 Jul 23, doi: 10.1161/HCG.0000000000000067.

  64. Marstrand P, Han L, Day SM, Olivotto I, Ashley EA, Michels M, Pereira AC, Wittekind SG, Helms AS, Saberi S, Jacoby D, Ware JS, Colan SD, Semsarian C, Ingles J, Lakdawala N, Ho CY. Hypertrophic Cardiomyopathy with Left Ventricular Systolic Dysfunction: Insights from the SHaRe Registry. Circulation 2020 Mar 31. doi: 10.1161.

  65. Balasubramanian S, Saberi S, Yu S, Duvernoy C, Day SM, Agarwal P. Women Representation Among Cardiology Journal Editorial Boards. Circulation 2020, Feb 18;141(7):603-605

  66. Toepfer CN, Agarwal R, Ewoldt J, Cloonan P, Letendre J, Lun M, Olivotto I, Colan S, Ashley E, Jacoby D, Michels M, Redwood C, Watkins H, Day SM, Staples J, Padron R, Chopra A, Chen C, Ho C, Pereira A, Seidman J, Seidman CE. Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy. Circulation 2020 Mar 10;141(10):828-842.  PMCID:  PMC7077965

  67.  Helms AS, Tang V, O’Leary TS, Friedline S, Wauchope M, Arora K, Wasserman AH, Smith ED, Lee LM, Wen XW, Shavit JA, Liu AP, Previs MJ, Day SM. Effects of MYBPC3 Loss of Function Mutations Preceding Hypertrophic Cardiomyopathy, JCI Insight 2020 Jan 30;5(2). Pii:133782. Doi:10.1172. PMCID:  PMC7098724

  68. Eberly L, Day SM, Ashley EA, Jacoby D, Jefferies J, Colan SD, Rossano J, Semsarian C, Pereira AC, Olivotto I, Ingles J, Seidman CE, Channaoui C, Cirino AL, Han L, Ho CY, Lakdawala NK. Racial Differences in Disease Expression and Clinical Outcomes in Hypertrophic Cardiomyopathy in the United States. JAMA Cardiology 2019 Dec 4. Doi: 10.1001/jamacardio.2019.4638  PMCID:  PMC6902181

  69. Axelsson Raja A, Shi L, Day SM, Russell M, Zahka K, Lever H, Colan S, Margossian R, Hall EK, Becker J, Jefferies JL, Patal A, Choudhury L, Murphy A, Canter C, Bach R, Taylor M, Mestroni L, Wheeler M, Benson L, Owens A, Rossano J, Lin K, Pahl E, Pereira A, Bundgaard H, Lewis G, Vargas J, Cirino A, McMurray J, MacRae C. Solomon S, Orav EJ, Braunwald E, Ho C. Baseline characteristics of the Valsartan for Attenuating Disease Evolution in Early Sarcomeric Hypertrophic Cardiomyopathy Cohort. Circulation: Heart Failure 2019 Dec;12(12):e006231.

  70.  Fumagalli C, Maurizi N, Day SM, Ashley EA, Michels M, Colan SD, Jacoby D, Marchionni N, Vincent-Tompkins J, Ho CY, Olivotto I. Association of Obesity with Adverse Long-Term Outcomes in Hypertrophic Cardiomyopathy. JAMA Cardiology 2019 Nov 6:1-8.  PMCID:  PMC6865784

  71. Garratt M, Leander D, Pifer K, Herrera J, Day SM, Fiehn O, Brooks S, Miller RA. 17-a Estradiol Ameliorates Age-Associated Sarcopenia and Improves Late Life Physical Function in Male Mice But Not in Females or Castrated Males. Aging Cell 2019 Apr;18(2):e12920.

  72. Walsh R, Mazzarotto F, Whiffin N, Buchan R, Midwinter W, Wilk A, Li N, Felkin L, Ingold N, Govind R, Ahm,ad M, Mazaika E, Allouba M, Zhang X, de Marvao A, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Thomson KL, Watkins H, Barton PJR, Olivotto, I, Cook SA, Ware JS. Quantitative Approaches to Variant Classification Increase the Yield and Precision of Genetic Testing for Mendelian Diseases: The Case for Hypertrophic Cardiomyopathy. Genome Medicine 2019 Jan 29;11(1):5.  PMCID:  PMC6350371

  73. Day SM. Nonobstructive Hypertrophic Cardiomyopathy: The High Hanging Fruit. JAMA Cardiology 2019 Feb 6.doi:10.1001/jamacardio.2018.4953

  74. O’Leary T, Snyder J, Sadayappan S, Day SM, Previs MJ. MYBPC3 truncation mutations enhance actomyosin contractile mechanics in human hypertrophic cardiomyopathy. Journal of Molecular and Cellular Cardiology 2019 Feb;127:165-173  PMCID:  PMC6592272

  75. Ahmad F, McNally EM, Ackerman MJ, Baty LC, Day SM, Kullo IJ, Madueme PC, Maron MS, Martinez MW, Phetteplace JE, Salberg L, Taylor MR. Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting the Standards. Circulation Genomics and Precision Medicine 2019, Jun;12(6):e000054.

  76. Glazier A, Thompson A, Day SM. Allelic Imbalance and Haploinsufficiency in MYBPC3 Mutations. Plugers Archiv: European Journal of Physiology 2019 May;471(5):781-793.  PMCID:  PMC6476680
  77. Vigneault DM, Yang E, Jensen PJ, Tee MW, Harhad H, Chu L, Noble JA, Day SM, Colan SD, Russell MW, Towbin J, Sherrid MV, Canter CE, Shi L, Ho CY, Bluemke DA. Left Ventricular Strain is Abnormal in Preclinical and Overt Hypertrophic Cardiomyopathy: Cardiac MR Feature Tracking. Radiology 2018 Dec 18:180339. Doi: 10.1148/radiol.2018180339.  PMCID:  PMC6394738
  78. Lee SP, Ashley EA, Homburger J, Caleshu C, Green EM, Jacoby D, Colan SD, Fernandez EA, Day SM, Girolami F, Olivotto I, Michels M, Ho CY, Perez MV. Incident Atrial Fibrillation is Associated with MYH7 Sarcomeric Gene Variation in Hypertrophy Cardiomyopathy: Results from the International Sarcomeric Human Cardiomyopathy Registry. Circulation Heart Failure 2018;11:e005191. DOI: 10.1161/CIRCHEARTFAILURE.118.005191.  
  79. Smith ED, Tome J, Mcgrath R, Kumar S, Concannon M, Day SM, Saberi S, Helms AS. Abnormal Blood Pressure Response Identifies Heart Failure Risk in Hypertrophic Cardiomyopathy. Int J Cardiol 2018, 10.1016/j.ijcard.2018.07.110.
  80. Ho CY, Day SM, Ashley EA, Michels M, Pereira A, Jacoby D, Fox J, Caleshu C, Cirino AL, Ware J, Helms AS, Colan SD, Signorovich J, Green E, Olivotto I. Examining Natural History and Genotype-Phenotype Correlations in Hypertrophic Cardiomyopathy: Findings from the Sarcomeric Human Cardiomyopathy Registry. Circulation 2018;138(14):1387-1398
  81. Glazier A, Hafeez N, Mellacheruvu D, Basrur V, Nesvizhskii A, Tang V, Yob J, Gestwicki J, Helms AS, Day SM. HSC70 is a Chaperone for Wild-type and Mutant Cardiac Myosin Binding Protein C. JCI Insight 2018, 10.1172/jci.insight.99319.  PMCID:  PMC6124431
  82. Masarone D, Kaski JP, Pacileo G, Elliott PM, Bossone E, Day SM, Limongelli G. Epidemiology and Clinical Aspects of Genetic Cardiomyopathies. Heart Failure Clinics of North America 2018;14(2):121-128.
  83. Limongelli G, Bossone E, Elliott P, Day SM. Preface: On the Road from Gene to Therapy in Inherited Cardiomyopathies. Heart Failure Clinics of North America 2018;14(2):xi-xv.
  84. Tang V, Arscott P, Helms AS, Day SM. Whole Exome Sequencing Reveals GATA4 and PTEN Mutations as a Potential Digenic Cause of Left Ventricular Noncompaction. Circulation: Genomic and Precision Medicine 2018;11:e001966 DOI:10.1161/CIRCGEN.117.001966
  85. Saberi S, Day SM. Exercise and HCM – Time for a Change of Heart. Circulation 2018;137(5):419-21.
  86. Saberi S, Day SM. Vigorous Exercise in HCM: Benefits May Outweigh the Risks. Int J Cardiol 2018;250:229-230.
  87. Ko C, Arscott P, Saberi S, Concannon M, Day SM, Yashar BM, Helms AS. Genetic Testing Impacts the Utility of Prospective Familial Screening in Hypertrophic Cardiomyopathy Through Identification of a Non-Familial Subgroup. Genetics in Medicine 2018;20(1):69-75.
  88. Ho JE, Shi L, Day SM, Colan SD, Russell M, Towbin JA, Sherrid MV, Canter CE, Murphy A, Mestroni L, Cirino AL, Sleeper LA, Jarolim P, Lopez B, Gonzalex A, Peiz J, Orav JE, Ho C. Biomarkers of Cardiovascular Stress and Fibrosis in Preclinical Hypertrophic Cardiomyopathy. OpenHeart 2017;4:e000615.doi:10.1136/openhrt-2017-00615.  PMCID:  PMC5687543
  89. Cirino AL, Harris S, Lakdawala NK, Michels M, Olivotto I, Day SM, Abrams DJ, Charon P, Caleshu C, Semsarian C, Ingles J, Rakowski H, Judge DP, Ho CY. Role of Genetic Testing in Inherited Cardiac Disease. JAMA Cardiology 2017 Aug 9. doi: 10.1001/jamacardio.2017.2352
  90. Thompson AD, Day SM. Founder Mutations in Myosin Binding Protein C: Maybe not so benign after all. Circulation: Cardiovascular Genetics 2017 Aug;10(4). pii: e001872. doi: 10.1161/CIRCGENETICS.117.001872
  91. Ho CY, Cirino AL, Colan SD, Day SM, Desai A, Lipshultz SE, MacRae CA, McMurray JJV, Solomon SD, Shi L, Orav EJ, Braunwald E. Valsartan for Attenuating Disease Evolution in Early Sarcomeric Hypertrophic Cardiomyopathy: The VANISH Trial Protocol. American Heart Journal 2017 May;187:145-155
  92. Helms AS, Day SM. Other Side of the Coin: Missing Heritability in Hypertrophic Cardiomyopathy. European Heart Journal 2017;13.doi:10.1093/eurheartj/ehx024.
  93. Ho CY, Day SM, Colan SD, Russell MW, Towbin J, Sherrid M, Canter CE, Jeffries JL, Murphy A, Taylor M, Mestroni L, Cirino AL, Bluemke DA, Abraham TP, Jarolim P, Sleeper LA, Shi L, Seidman CE, Orav EJ for the HCMNet Investigators. The Burden of Early Phenotypes and the Impact of Left Ventricular Wall Thickness on Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers: Findings from the HCMNet Study. JAMA Cardiology 2017;2(4):419-428.
  94. Saberi S, Wheeler M, Bragg-Gresham J, Hornsby W, Agarwal P, Attili A, Concannon M, Dries AM, Schmargad Y, Salisbury H, Kumar S, Herrera J, Myers J, Helms AS, Ashley EA, Day SM. Effect of Moderate Intensity Exercise Training on Peak Oxygen Consumption in Patients with Hypertrophic Cardiomyopathy, A Randomized Clinical Trial. JAMA 2017;317(13):1349-1357. Accompanying editorial, JAMA 2017;317(13):1319-1320.  PMCID:  PMC5469299
  95. Helms AS, Alvarado F, Yob JM, Tang V, Bartolone S, Pagani F, Russell MW, Valdivia H, Day SM. Genotype Dependent Calcium Signaling Dysfunction in Human Hypertrophic Cardiomyopathy. Circulation 2016;134:1738-1748. Accompanying editorial, Circulation 2016;134:1749-1751  PMCID:  PMC5127749