Publications

Selected Publications:

A full list of publications can be found on PubMed.  
  1. Day SM, Tardiff JC, Ostap EM. Myosin Modulators: Emerging approaches for the treatment of cardiomyopathies and heart failure. JCI, in review

  2. Helms AS, Thompson AD, Day SM. Translating New and Emerging Therapies for Genetic Cardiomyopathies. JACC: Basic to Translational Research 2021, in press.

  3. Nauffal V, Marstrand P, Han L, Parikh VN, Helms AS, Ingles J, Jacoby D, Lakdawala N, Kapur S, MIcvhels M, Owens AT, Ashley EA, Pereira AC, Rossano JW, Saberi S, Semsarian C, Ware JS, Wittekind SG, Day SM, Olivotto I, Ho CY. Worldwide Differences in Primary Prevention Implantable Cardioverter Defibrillator Utilization and Outcomes in Hypertrophic Cardiomyopathy. Eur Heart Journal 2021, in press.

  4. Repetti GG, Kim Y, Pereira AC, Ingles J, Russell M, Lakdawala NK, SHaRe Investigators, Ho CY, Day SM, Semsarian C, McDonough B, DePalma SR, Quiat D, Green EM, Seidman CE, Seidman JG. Discordant Clinical Features of Identical Hypertrophic Cardiomyopathy Twins. PNAS, in press.

  5. 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. Signature activities of 20S proteasome reveal degradation of the ubiquitin-tag along with the protein under hypoxia. Nature Communications 2021, in press.

  6. 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

  7. 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

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

  9. 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.

  10. 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

  11. 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

  12. 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.  

  13.  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 cardiomyopathyCirculation: Genomics and Precision Medicine 2020 Dec 7. Doi: 10.1161/CIRCGEN 120.003062

  14. 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 RegistryCirculation: Heart Failure 2020, doi:10.1161/CIRCHEARTFAILURE.120.007230

  15. 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.

  16. 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 CardiomyopathyCirculation: Genomics and Precision Medicine 2020, doi: 10.1161/CIRCGEN.120.002929

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

  18. 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 RegistryCirculation 2020 Mar 31. doi: 10.1161.

  19. 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

  20. 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

  21.  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

  22. 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

  23. 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.

  24.  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

  25. 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.

  26. 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

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

  28. 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

  29. 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.

  30. 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
  31. 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
  32. 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.  
  33. 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.
  34. 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
  35. 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
  36. 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.
  37. 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.
  38. 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
  39. Saberi S, Day SM. Exercise and HCM – Time for a Change of Heart. Circulation 2018;137(5):419-21.
  40. Saberi S, Day SM. Vigorous Exercise in HCM: Benefits May Outweigh the Risks. Int J Cardiol 2018;250:229-230.
  41. 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.
  42. 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
  43. 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
  44. 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
  45. 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
  46. Helms AS, Day SM. Other Side of the Coin: Missing Heritability in Hypertrophic Cardiomyopathy. European Heart Journal 2017;13.doi:10.1093/eurheartj/ehx024.
  47. 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.
  48. 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
  49. 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