Harvard Catalyst Profiles

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Jeffrey E Saffitz, M.D., Ph.D.

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Research
research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
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  1. R01HL136463 (SAFFITZ, JEFFREY E) Jul 15, 2018 - Jun 30, 2022
    NIH/NHLBI
    Altered Cell-Cell Coupling in Arrhythmogenic Cardiomyopathy
    Role: Principal Investigator
  2. R01HL116906 (TOWBIN, JEFFREY ALLEN) Aug 23, 2013 - Jun 30, 2017
    NIH/NHLBI
    Genetics, Mechanisms and Clinical Phenotypes of Arrhythmogenic Cardiomyopathy
    Role: Co-Principal Investigator
  3. R01HL102361 (SAFFITZ, JEFFREY E) Apr 1, 2010 - Mar 31, 2014
    NIH/NHLBI
    Disease Mechanisms in ARVC
    Role: Principal Investigator
  4. RC1HL100110 (SAFFITZ, JEFFREY E) Sep 30, 2009 - Aug 31, 2012
    NIH/NHLBI
    Determinants of Disease Expression in Arrhythmogenic Cardiomyopathy
    Role: Principal Investigator
  5. R01HL058507 (SAFFITZ, JEFFREY E) Apr 1, 1998 - Dec 31, 2008
    NIH/NHLBI
    Cx43 in a Genetic Model of Altered Myocardial Conduction
    Role: Principal Investigator

Bibliographic
selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Towbin JA, McKenna WJ, Abrams DJ, Ackerman MJ, Calkins H, Darrieux FCC, Daubert JP, de Chillou C, DePasquale EC, Desai MY, Estes NAM, Hua W, Indik JH, Ingles J, James CA, John RM, Judge DP, Keegan R, Krahn AD, Link MS, Marcus FI, McLeod CJ, Mestroni L, Priori SG, Saffitz JE, Sanatani S, Shimizu W, van Tintelen JP, Wilde AAM, Zareba W. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm. 2019 May 09. PMID: 31078652.
    Citations:    
  2. Austin KM, Trembley MA, Chandler SF, Sanders SP, Saffitz JE, Abrams DJ, Pu WT. Molecular mechanisms of arrhythmogenic cardiomyopathy. Nat Rev Cardiol. 2019 Apr 25. PMID: 31028357.
    Citations:    
  3. Thiene G, Saffitz JE. Response by Thiene and Saffitz to Letter Regarding Article, "Autopsy as a Source of Discovery in Cardiovascular Medicine: Then and Now". Circulation. 2019 Jan 22; 139(4):568-569. PMID: 30664373.
    Citations:    Fields:    
  4. Te Rijdt WP, Asimaki A, Jongbloed JDH, Hoorntje ET, Lazzarini E, van der Zwaag PA, de Boer RA, van Tintelen JP, Saffitz JE, van den Berg MP, Suurmeijer AJH. Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy. Cardiovasc Pathol. 2019 May - Jun; 40:2-6. PMID: 30763825.
    Citations:    
  5. Saffitz JE. Nuclear receptors and a network biology approach to understanding and treating heart disease. Trends Cardiovasc Med. 2018 Dec 11. PMID: 30559047.
    Citations:    Fields:    
  6. Thiene G, Saffitz JE. Autopsy as a Source of Discovery in Cardiovascular Medicine: Then and Now. Circulation. 2018 Jun 19; 137(25):2683-2685. PMID: 29915093.
    Citations:    Fields:    
  7. Begay RL, Graw SL, Sinagra G, Asimaki A, Rowland TJ, Slavov DB, Gowan K, Jones KL, Brun F, Merlo M, Miani D, Sweet M, Devaraj K, Wartchow EP, Gigli M, Puggia I, Salcedo EE, Garrity DM, Ambardekar AV, Buttrick P, Reece TB, Bristow MR, Saffitz JE, Mestroni L, Taylor MRG. Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures. JACC Clin Electrophysiol. 2018 Apr; 4(4):504-514. PMID: 30067491.
    Citations: 1     
  8. Saffitz JE. Molecular mechanisms in the pathogenesis of arrhythmogenic cardiomyopathy. Cardiovasc Pathol. 2017 May - Jun; 28:51-58. PMID: 28319834.
    Citations:    Fields:    Translation:HumansAnimalsCells
  9. Rowe GC, Asimaki A, Graham EL, Martin KD, Margulies KB, Das S, Saffitz J, Arany Z. Development of dilated cardiomyopathy and impaired calcium homeostasis with cardiac-specific deletion of ESRRß. Am J Physiol Heart Circ Physiol. 2017 Apr 01; 312(4):H662-H671. PMID: 28130335.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  10. Chelko SP, Asimaki A, Andersen P, Bedja D, Amat-Alarcon N, DeMazumder D, Jasti R, MacRae CA, Leber R, Kleber AG, Saffitz JE, Judge DP. Central role for GSK3ß in the pathogenesis of arrhythmogenic cardiomyopathy. JCI Insight. 2016 Apr 21; 1(5). PMID: 27170944.
    Citations: 12     Fields:    
  11. Almomani R, Verhagen JM, Herkert JC, Brosens E, van Spaendonck-Zwarts KY, Asimaki A, van der Zwaag PA, Frohn-Mulder IM, Bertoli-Avella AM, Boven LG, van Slegtenhorst MA, van der Smagt JJ, van IJcken WF, Timmer B, van Stuijvenberg M, Verdijk RM, Saffitz JE, du Plessis FA, Michels M, Hofstra RM, Sinke RJ, van Tintelen JP, Wessels MW, Jongbloed JD, van de Laar IM. Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. J Am Coll Cardiol. 2016 Feb 09; 67(5):515-25. PMID: 26846950.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  12. Asimaki A, Protonotarios A, James CA, Chelko SP, Tichnell C, Murray B, Tsatsopoulou A, Anastasakis A, te Riele A, Kléber AG, Judge DP, Calkins H, Saffitz JE. Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells. Circ Arrhythm Electrophysiol. 2016 Feb; 9(2):e003688. PMID: 26850880.
    Citations: 2     Fields:    Translation:HumansCells
  13. Siqueira WC, da Cruz SG, Asimaki A, Saffitz JE, Moreira Mda C, Brasileiro G, Rocha LO. Cardiac sarcoidosis with severe involvement of the right ventricle: a case report. Autops Case Rep. 2015 Oct-Dec; 5(4):53-63. PMID: 26894046.
    Citations:    
  14. Saffitz JE, Corradi D. The electrical heart: 25 years of discovery in cardiac electrophysiology, arrhythmias and sudden death. Cardiovasc Pathol. 2016 Mar-Apr; 25(2):149-57. PMID: 26764149.
    Citations: 2     Fields:    Translation:HumansAnimals
  15. Spezzacatene A, Sinagra G, Merlo M, Barbati G, Graw SL, Brun F, Slavov D, Di Lenarda A, Salcedo EE, Towbin JA, Saffitz JE, Marcus FI, Zareba W, Taylor MR, Mestroni L. Arrhythmogenic Phenotype in Dilated Cardiomyopathy: Natural History and Predictors of Life-Threatening Arrhythmias. J Am Heart Assoc. 2015 Oct 16; 4(10):e002149. PMID: 26475296.
    Citations: 10     Fields:    Translation:Humans
  16. Ahmad T, Yin P, Saffitz J, Pockros PJ, Lalezari J, Shiffman M, Freilich B, Zamparo J, Brown K, Dimitrova D, Kumar M, Manion D, Heath-Chiozzi M, Wolf R, Hughes E, Muir AJ, Hernandez AF. Cardiac dysfunction associated with a nucleotide polymerase inhibitor for treatment of hepatitis C. Hepatology. 2015 Aug; 62(2):409-16. PMID: 25251156.
    Citations: 11     Fields:    Translation:HumansCellsCTClinical Trials
  17. Asimaki A, Kleber AG, Saffitz JE. Pathogenesis of Arrhythmogenic Cardiomyopathy. Can J Cardiol. 2015 Nov; 31(11):1313-24. PMID: 26199027.
    Citations: 5     Fields:    Translation:Humans
  18. Saffitz JE. Protein trafficking in cardiovascular disease: How the science has evolved and where it must go. Trends Cardiovasc Med. 2015 Jul; 25(5):390-1. PMID: 25666491.
    Citations:    Fields:    Translation:HumansCells
  19. Asimaki A, Kléber AG, MacRae CA, Saffitz JE. Arrhythmogenic Cardiomyopathy - New Insights into Disease Mechanisms and Drug Discovery. Prog Pediatr Cardiol. 2014 Dec 01; 37(1-2):3-7. PMID: 25506190.
    Citations: 1     
  20. Kleber AG, Saffitz JE. Role of the intercalated disc in cardiac propagation and arrhythmogenesis. Front Physiol. 2014; 5:404. PMID: 25368581.
    Citations: 12     
  21. Hariharan V, Asimaki A, Michaelson JE, Plovie E, MacRae CA, Saffitz JE, Huang H. Arrhythmogenic right ventricular cardiomyopathy mutations alter shear response without changes in cell-cell adhesion. Cardiovasc Res. 2014 Nov 01; 104(2):280-9. PMID: 25253076.
    Citations: 8     Fields:    Translation:AnimalsCells
  22. Asimaki A, Kapoor S, Plovie E, Karin Arndt A, Adams E, Liu Z, James CA, Judge DP, Calkins H, Churko J, Wu JC, MacRae CA, Kléber AG, Saffitz JE. Identification of a new modulator of the intercalated disc in a zebrafish model of arrhythmogenic cardiomyopathy. Sci Transl Med. 2014 Jun 11; 6(240):240ra74. PMID: 24920660.
    Citations: 52     Fields:    Translation:AnimalsCells
  23. Saffitz JE, Sanders SP. Postmortem analysis of structural heart defects in fetuses and children by magnetic resonance imaging: an alternative to autopsy? Circulation. 2014 May 13; 129(19):1909-11. PMID: 24647276.
    Citations:    Fields:    Translation:Humans
  24. Corradi D, Callegari S, Manotti L, Ferrara D, Goldoni M, Alinovi R, Pinelli S, Mozzoni P, Andreoli R, Asimaki A, Pozzoli A, Becchi G, Mutti A, Benussi S, Saffitz JE, Alfieri O. Persistent lone atrial fibrillation: clinicopathologic study of 19 cases. Heart Rhythm. 2014 Jul; 11(7):1250-8. PMID: 24560692.
    Citations: 9     Fields:    Translation:Humans
  25. Asimaki A, Saffitz JE. Remodeling of cell-cell junctions in arrhythmogenic cardiomyopathy. Cell Commun Adhes. 2014 Feb; 21(1):13-23. PMID: 24460198.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  26. Haspel RL, Saffitz JE. Genomic oncology education: an urgent need, a new approach. Cancer J. 2014 Jan-Feb; 20(1):91-5. PMID: 24445771.
    Citations: 5     Fields:    Translation:Humans
  27. Noorman M, Hakim S, Asimaki A, Vreeker A, van Rijen HV, van der Heyden MA, de Jonge N, de Weger RA, Hauer RN, Saffitz JE, van Veen TA. Reduced plakoglobin immunoreactivity in arrhythmogenic cardiomyopathy: methodological considerations. Cardiovasc Pathol. 2013 Sep-Oct; 22(5):314-8. PMID: 23688911.
    Citations: 2     Fields:    Translation:HumansCells
  28. Park JK, Rosen A, Saffitz JE, Asimaki A, Litovsky SH, Mackey-Bojack SM, Halushka MK. Expression of cathepsin K and tartrate-resistant acid phosphatase is not confined to osteoclasts but is a general feature of multinucleated giant cells: systematic analysis. Rheumatology (Oxford). 2013 Aug; 52(8):1529-33. PMID: 23674817.
    Citations: 6     Fields:    Translation:HumansCells
  29. Noorman M, Hakim S, Kessler E, Groeneweg JA, Cox MG, Asimaki A, van Rijen HV, van Stuijvenberg L, Chkourko H, van der Heyden MA, Vos MA, de Jonge N, van der Smagt JJ, Dooijes D, Vink A, de Weger RA, Varro A, de Bakker JM, Saffitz JE, Hund TJ, Mohler PJ, Delmar M, Hauer RN, van Veen TA. Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy. Heart Rhythm. 2013 Mar; 10(3):412-9. PMID: 23178689.
    Citations: 36     Fields:    Translation:HumansCells
  30. Noorman M, Groeneweg JA, Asimaki A, Rizzo S, Papegaaij M, van Stuijvenberg L, de Jonge N, Dooijes D, Basso C, Saffitz JE, van Veen TA, Vink A, Hauer RN. End stage of arrhythmogenic cardiomyopathy with severe involvement of the interventricular septum. Heart Rhythm. 2013 Feb; 10(2):283-9. PMID: 23085127.
    Citations: 1     Fields:    Translation:Humans
  31. Saffitz JE, Kléber AG. Gap junctions, slow conduction, and ventricular tachycardia after myocardial infarction. J Am Coll Cardiol. 2012 Sep 18; 60(12):1111-3. PMID: 22883635.
    Citations: 8     Fields:    Translation:Animals
  32. van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, Cox MG, van Lochem LT, de Boer RA, Hofstra RM, Christiaans I, van Spaendonck-Zwarts KY, Lekanne dit Deprez RH, Judge DP, Calkins H, Suurmeijer AJ, Hauer RN, Saffitz JE, Wilde AA, van den Berg MP, van Tintelen JP. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail. 2012 Nov; 14(11):1199-207. PMID: 22820313.
    Citations: 59     Fields:    Translation:Humans
  33. Saffitz JE. Genomic pathology: a disruptive innovation. Per Med. 2012 May; 9(3):237-239. PMID: 29758788.
    Citations:    
  34. Beauchamp P, Desplantez T, McCain ML, Li W, Asimaki A, Rigoli G, Parker KK, Saffitz JE, Kleber AG. Electrical coupling and propagation in engineered ventricular myocardium with heterogeneous expression of connexin43. Circ Res. 2012 May 25; 110(11):1445-53. PMID: 22518032.
    Citations: 12     Fields:    Translation:AnimalsCells
  35. Gomes J, Finlay M, Ahmed AK, Ciaccio EJ, Asimaki A, Saffitz JE, Quarta G, Nobles M, Syrris P, Chaubey S, McKenna WJ, Tinker A, Lambiase PD. Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study. Eur Heart J. 2012 Aug; 33(15):1942-53. PMID: 22240500.
    Citations: 40     Fields:    Translation:HumansAnimals
  36. Van Norstrand DW, Asimaki A, Rubinos C, Dolmatova E, Srinivas M, Tester DJ, Saffitz JE, Duffy HS, Ackerman MJ. Connexin43 mutation causes heterogeneous gap junction loss and sudden infant death. Circulation. 2012 Jan 24; 125(3):474-81. PMID: 22179534.
    Citations: 25     Fields:    Translation:HumansAnimalsCells
  37. Leone O, Veinot JP, Angelini A, Baandrup UT, Basso C, Berry G, Bruneval P, Burke M, Butany J, Calabrese F, d'Amati G, Edwards WD, Fallon JT, Fishbein MC, Gallagher PJ, Halushka MK, McManus B, Pucci A, Rodriguez ER, Saffitz JE, Sheppard MN, Steenbergen C, Stone JR, Tan C, Thiene G, van der Wal AC, Winters GL. 2011 consensus statement on endomyocardial biopsy from the Association for European Cardiovascular Pathology and the Society for Cardiovascular Pathology. Cardiovasc Pathol. 2012 Jul-Aug; 21(4):245-74. PMID: 22137237.
    Citations: 48     Fields:    Translation:Humans
  38. Asimaki A, Saffitz JE. Gap junctions and arrhythmogenic cardiomyopathy. Heart Rhythm. 2012 Jun; 9(6):992-5. PMID: 22100709.
    Citations: 5     Fields:    Translation:HumansCells
  39. Gehmlich K, Syrris P, Reimann M, Asimaki A, Ehler E, Evans A, Quarta G, Pantazis A, Saffitz JE, McKenna WJ. Molecular changes in the heart of a severe case of arrhythmogenic right ventricular cardiomyopathy caused by a desmoglein-2 null allele. Cardiovasc Pathol. 2012 Jul-Aug; 21(4):275-82. PMID: 22036071.
    Citations: 8     Fields:    Translation:HumansAnimalsCells
  40. Saffitz JE. Arrhythmogenic cardiomyopathy: advances in diagnosis and disease pathogenesis. Circulation. 2011 Oct 11; 124(15):e390-2. PMID: 21986778.
    Citations: 7     Fields:    Translation:HumansCells
  41. Asimaki A, Tandri H, Duffy ER, Winterfield JR, Mackey-Bojack S, Picken MM, Cooper LT, Wilber DJ, Marcus FI, Basso C, Thiene G, Tsatsopoulou A, Protonotarios N, Stevenson WG, McKenna WJ, Gautam S, Remick DG, Calkins H, Saffitz JE. Altered desmosomal proteins in granulomatous myocarditis and potential pathogenic links to arrhythmogenic right ventricular cardiomyopathy. Circ Arrhythm Electrophysiol. 2011 Oct; 4(5):743-52. PMID: 21859801.
    Citations: 26     Fields:    Translation:HumansAnimalsCells
  42. Razani B, Zhang H, Schulze PC, Schilling JD, Verbsky J, Lodhi IJ, Topkara VK, Feng C, Coleman T, Kovacs A, Kelly DP, Saffitz JE, Dorn GW, Nichols CG, Semenkovich CF. Fatty acid synthase modulates homeostatic responses to myocardial stress. J Biol Chem. 2011 Sep 02; 286(35):30949-61. PMID: 21757749.
    Citations: 21     Fields:    Translation:AnimalsCells
  43. Tonellato PJ, Crawford JM, Boguski MS, Saffitz JE. A national agenda for the future of pathology in personalized medicine: report of the proceedings of a meeting at the Banbury Conference Center on genome-era pathology, precision diagnostics, and preemptive care: a stakeholder summit. Am J Clin Pathol. 2011 May; 135(5):668-72. PMID: 21502420.
    Citations: 10     Fields:    Translation:Humans
  44. Gehmlich K, Lambiase PD, Asimaki A, Ciaccio EJ, Ehler E, Syrris P, Saffitz JE, McKenna WJ. A novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions. Heart Rhythm. 2011 May; 8(5):711-8. PMID: 21220045.
    Citations: 15     Fields:    Translation:HumansCells
  45. Saffitz JE. The pathobiology of arrhythmogenic cardiomyopathy. Annu Rev Pathol. 2011; 6:299-321. PMID: 21073337.
    Citations: 13     Fields:    Translation:HumansAnimals
  46. Asimaki A, Saffitz JE. The role of endomyocardial biopsy in ARVC: looking beyond histology in search of new diagnostic markers. J Cardiovasc Electrophysiol. 2011 Jan; 22(1):111-7. PMID: 21235662.
    Citations: 5     Fields:    Translation:Humans
  47. Gehmlich K, Syrris P, Peskett E, Evans A, Ehler E, Asimaki A, Anastasakis A, Tsatsopoulou A, Vouliotis AI, Stefanadis C, Saffitz JE, Protonotarios N, McKenna WJ. Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. Cardiovasc Res. 2011 Apr 01; 90(1):77-87. PMID: 21062920.
    Citations: 12     Fields:    Translation:HumansAnimalsCells
  48. Samedi V, White S, Zimarowski MJ, Harris A, Saffitz J, Wang HH. Metastatic peritoneal mesothelioma in the setting of recurrent ascites: a case report. Diagn Cytopathol. 2010 Sep; 38(9):675-81. PMID: 20049974.
    Citations: 2     Fields:    Translation:Humans
  49. Gehmlich K, Asimaki A, Cahill TJ, Ehler E, Syrris P, Zachara E, Re F, Avella A, Monserrat L, Saffitz JE, McKenna WJ. Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy? Heart Rhythm. 2010 Oct; 7(10):1446-53. PMID: 20708101.
    Citations: 10     Fields:    Translation:HumansCells