Harvard Catalyst Profiles

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James Paul Pirruccello, M.D.

Title
Institution
Department
Address
Phone
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Biography
Yale University, New Haven, CTBS06/2006Molecular Biophysics & Biochemistry
Johns Hopkins University School of Medicine, Baltimore, MDMD06/2013Medicine

Research
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.
  1. K08HL159346 (PIRRUCCELLO, JAMES) Aug 1, 2021 - Jul 31, 2026
    NIH
    Deep learning to enable the genetic analysis of aorta
    Role: Principal Investigator
  2. Scholar Award (James Pirruccello)
    Sarnoff Cardiovascular Research Foundation

Bibliographic
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.
Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
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. Pirruccello JP, Lin H, Khurshid S, Nekoui M, Weng LC, Ramachandran VS, Isselbacher EM, Benjamin EJ, Lubitz SA, Lindsay ME, Ellinor PT. Development of a Prediction Model for Ascending Aortic Diameter Among Asymptomatic Individuals. JAMA. 2022 11 15; 328(19):1935-1944. PMID: 36378208.
    Citations:    Fields:    Translation:Humans
  2. Robinson JR, Carroll RJ, Bastarache L, Chen Q, Pirruccello J, Mou Z, Wei WQ, Connolly J, Mentch F, Crane PK, Hebbring SJ, Crosslin DR, Gordon AS, Rosenthal EA, Stanaway IB, Hayes MG, Wei W, Petukhova L, Namjou-Khales B, Zhang G, Safarova MS, Walton NA, Still C, Bottinger EP, Loos RJF, Murphy SN, Jackson GP, Abumrad N, Kullo IJ, Jarvik GP, Larson EB, Weng C, Roden D, Khera AV, Denny JC. Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics. Obesity (Silver Spring). 2022 Nov 13. PMID: 36372681.
    Citations:    Fields:    
  3. Halford JL, Morrill VN, Choi SH, Jurgens SJ, Melloni G, Marston NA, Weng LC, Nauffal V, Hall AW, Gunn S, Austin-Tse CA, Pirruccello JP, Khurshid S, Rehm HL, Benjamin EJ, Boerwinkle E, Brody JA, Correa A, Fornwalt BK, Gupta N, Haggerty CM, Harris S, Heckbert SR, Hong CC, Kooperberg C, Lin HJ, Loos RJF, Mitchell BD, Morrison AC, Post W, Psaty BM, Redline S, Rice KM, Rich SS, Rotter JI, Schnatz PF, Soliman EZ, Sotoodehnia N, Wong EK, Sabatine MS, Ruff CT, Lunetta KL, Ellinor PT, Lubitz SA. Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes. Nat Commun. 2022 Sep 30; 13(1):5767. PMID: 36180445; PMCID: PMC9525665.
    Citations:    Fields:    
  4. Chou EL, Chaffin M, Simonson B, Pirruccello JP, Akkad AD, Nekoui M, Lino Cardenas CL, Bedi KC, Nash C, Juric D, Stone JR, Isselbacher EM, Margulies KB, Klattenhoff C, Ellinor PT, Lindsay ME. Aortic Cellular Diversity and Quantitative Genome-Wide Association Study Trait Prioritization Through Single-Nuclear RNA Sequencing of the Aneurysmal Human Aorta. Arterioscler Thromb Vasc Biol. 2022 Nov; 42(11):1355-1374. PMID: 36172868; PMCID: PMC9613617.
    Citations:    Fields:    Translation:HumansCells
  5. Chou E, Pirruccello JP, Ellinor PT, Lindsay ME. Genetics and mechanisms of thoracic aortic disease. Nat Rev Cardiol. 2022 Sep 21. PMID: 36131050.
    Citations:    Fields:    
  6. Khurshid S, Weng LC, Nauffal V, Pirruccello JP, Venn RA, Al-Alusi MA, Benjamin EJ, Ellinor PT, Lubitz SA. Wearable accelerometer-derived physical activity and incident disease. NPJ Digit Med. 2022 Sep 02; 5(1):131. PMID: 36056190; PMCID: PMC9440134.
    Citations:    
  7. Halford JL, Morrill VN, Choi SH, Jurgens SJ, Melloni G, Marston NA, Weng LC, Nauffal V, Hall AW, Gunn S, Austin-Tse CA, Pirruccello JP, Khurshid S, Rehm HL, Benjamin EJ, Boerwinkle E, Brody JA, Correa A, Fornwalt BK, Gupta N, Haggerty CM, Harris S, Heckbert SR, Hong CC, Kooperberg C, Lin HJ, Loos RJF, Mitchell BD, Morrison AC, Post W, Psaty BM, Redline S, Rice KM, Rich SS, Rotter JI, Schnatz PF, Soliman EZ, Sotoodehnia N, Wong EK, Sabatine MS, Ruff CT, Lunetta KL, Ellinor PT, Lubitz SA. Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes. Nat Commun. 2022 08 30; 13(1):5106. PMID: 36042188; PMCID: PMC9427940.
    Citations:    Fields:    Translation:Humans
  8. Nekoui M, Pirruccello JP, Di Achille P, Choi SH, Friedman SN, Nauffal V, Ng K, Batra P, Ho JE, Philippakis AA, Lubitz SA, Lindsay ME, Ellinor PT. Spatially Distinct Genetic Determinants of Aortic Dimensions Influence Risks of Aneurysm and Stenosis. J Am Coll Cardiol. 2022 08 02; 80(5):486-497. PMID: 35902171.
    Citations:    Fields:    
  9. Lazarte J, Jurgens SJ, Choi SH, Khurshid S, Morrill VN, Weng LC, Nauffal V, Pirruccello JP, Halford JL, Hegele RA, Ellinor PT, Lunetta KL, Lubitz SA. LMNA Variants and Risk of Adult-Onset Cardiac Disease. J Am Coll Cardiol. 2022 07 05; 80(1):50-59. PMID: 35772917.
    Citations:    Fields:    Translation:HumansCells
  10. Patel AP, Dron JS, Wang M, Pirruccello JP, Ng K, Natarajan P, Lebo M, Ellinor PT, Aragam KG, Khera AV. Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality. JAMA Cardiol. 2022 07 01; 7(7):723-732. PMID: 35544052; PMCID: PMC9096692.
    Citations:    Fields:    Translation:Humans
  11. Pirruccello JP, Di Achille P, Nauffal V, Nekoui M, Friedman SF, Klarqvist MDR, Chaffin MD, Weng LC, Cunningham JW, Khurshid S, Roselli C, Lin H, Koyama S, Ito K, Kamatani Y, Komuro I, Jurgens SJ, Benjamin EJ, Batra P, Natarajan P, Ng K, Hoffmann U, Lubitz SA, Ho JE, Lindsay ME, Philippakis AA, Ellinor PT. Genetic analysis of right heart structure and function in 40,000 people. Nat Genet. 2022 06; 54(6):792-803. PMID: 35697867.
    Citations:    Fields:    Translation:Humans
  12. Biddinger KJ, Pirruccello JP, Khurshid S, Natarajan P, Ho JE, Lubitz SA, Ellinor PT, Aragam KG. Genetic Association of Body Mass Index With Pathologic Left Ventricular Remodeling. J Am Heart Assoc. 2022 04 19; 11(8):e024408. PMID: 35383479; PMCID: PMC9238453.
    Citations:    Fields:    Translation:Humans
  13. Zekavat SM, Chou EL, Zekavat M, Pampana A, Paruchuri K, Lino Cardenas CL, Koyama S, Ghazzawi Y, Kii E, Uddin MM, Pirruccello J, Zhao H, Wood M, Natarajan P, Lindsay ME. Fibrillar Collagen Variants in Spontaneous Coronary Artery Dissection. JAMA Cardiol. 2022 04 01; 7(4):396-406. PMID: 35234813; PMCID: PMC8892371.
    Citations: 1     Fields:    Translation:HumansAnimals
  14. Georgakis MK, Parodi L, Frerich S, Mayerhofer E, Tsivgoulis G, Pirruccello JP, Slowik A, Rundek T, Malik R, Dichgans M, Rosand J, Anderson CD. Genetic Architecture of Stroke of Undetermined Source: Overlap with Known Stroke Etiologies and Associations with Modifiable Risk Factors. Ann Neurol. 2022 05; 91(5):640-651. PMID: 35178771.
    Citations:    Fields:    Translation:Humans
  15. Jurgens SJ, Choi SH, Morrill VN, Chaffin M, Pirruccello JP, Halford JL, Weng LC, Nauffal V, Roselli C, Hall AW, Oetjens MT, Lagerman B, vanMaanen DP, Aragam KG, Lunetta KL, Haggerty CM, Lubitz SA, Ellinor PT. Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank. Nat Genet. 2022 03; 54(3):240-250. PMID: 35177841; PMCID: PMC8930703.
    Citations: 5     Fields:    Translation:Humans
  16. Haas ME, Pirruccello JP, Friedman SN, Wang M, Emdin CA, Ajmera VH, Simon TG, Homburger JR, Guo X, Budoff M, Corey KE, Zhou AY, Philippakis A, Ellinor PT, Loomba R, Batra P, Khera AV. Machine learning enables new insights into genetic contributions to liver fat accumulation. Cell Genom. 2021 Dec 08; 1(3). PMID: 34957434; PMCID: PMC8699145.
    Citations: 3     
  17. Pirruccello JP, Chaffin MD, Chou EL, Fleming SJ, Lin H, Nekoui M, Khurshid S, Friedman SF, Bick AG, Arduini A, Weng LC, Choi SH, Akkad AD, Batra P, Tucker NR, Hall AW, Roselli C, Benjamin EJ, Vellarikkal SK, Gupta RM, Stegmann CM, Juric D, Stone JR, Vasan RS, Ho JE, Hoffmann U, Lubitz SA, Philippakis AA, Lindsay ME, Ellinor PT. Deep learning enables genetic analysis of the human thoracic aorta. Nat Genet. 2022 01; 54(1):40-51. PMID: 34837083; PMCID: PMC8758523.
    Citations: 4     Fields:    Translation:HumansCells
  18. Sinnott-Armstrong N, Tanigawa Y, Amar D, Mars N, Benner C, Aguirre M, Venkataraman GR, Wainberg M, Ollila HM, Kiiskinen T, Havulinna AS, Pirruccello JP, Qian J, Shcherbina A, Rodriguez F, Assimes TL, Agarwala V, Tibshirani R, Hastie T, Ripatti S, Pritchard JK, Daly MJ, Rivas MA. Author Correction: Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat Genet. 2021 Nov; 53(11):1622. PMID: 34608296.
    Citations: 1     Fields:    
  19. Kim PG, Niroula A, Shkolnik V, McConkey M, Lin AE, Slabicki M, Kemp JP, Bick A, Gibson CJ, Griffin G, Sekar A, Brooks DJ, Wong WJ, Cohen DN, Uddin MM, Shin WJ, Pirruccello J, Tsai JM, Agrawal M, Kiel DP, Bouxsein ML, Richards JB, Evans DM, Wein MN, Charles JF, Jaiswal S, Natarajan P, Ebert BL. Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis. J Exp Med. 2021 12 06; 218(12). PMID: 34698806; PMCID: PMC8552148.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  20. Bhattacharya R, Zekavat SM, Uddin MM, Pirruccello J, Niroula A, Gibson C, Griffin GK, Libby P, Ebert BL, Bick A, Natarajan P. Association of Diet Quality With Prevalence of Clonal Hematopoiesis and Adverse Cardiovascular Events. JAMA Cardiol. 2021 09 01; 6(9):1069-1077. PMID: 34106216; PMCID: PMC8190703.
    Citations: 8     Fields:    Translation:Humans
  21. Khurshid S, Friedman S, Pirruccello JP, Di Achille P, Diamant N, Anderson CD, Ellinor PT, Batra P, Ho JE, Philippakis AA, Lubitz SA. Deep Learning to Predict Cardiac Magnetic Resonance-Derived Left Ventricular Mass and Hypertrophy From 12-Lead ECGs. Circ Cardiovasc Imaging. 2021 06; 14(6):e012281. PMID: 34126762; PMCID: PMC8217289.
    Citations: 2     Fields:    Translation:Humans
  22. Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Wang C, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Bhattacharya R, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Kiryluk K, Neale B, Ionita-Laza I, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ, Terao C, Zhao H, Ebert BL, Reilly MP, Ganna A, Machiela MJ, Genovese G, Natarajan P. Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection. Nat Med. 2021 06; 27(6):1012-1024. PMID: 34099924; PMCID: PMC8245201.
    Citations: 14     Fields:    Translation:Humans
  23. Honigberg MC, Zekavat SM, Pirruccello JP, Natarajan P, Vaduganathan M. Cardiovascular and Kidney Outcomes Across the Glycemic Spectrum: Insights From the UK Biobank. J Am Coll Cardiol. 2021 08 03; 78(5):453-464. PMID: 34015477; PMCID: PMC8324525.
    Citations: 2     Fields:    Translation:Humans
  24. Natarajan P, Pampana A, Graham SE, Ruotsalainen SE, Perry JA, de Vries PS, Broome JG, Pirruccello JP, Honigberg MC, Aragam K, Wolford B, Brody JA, Antonacci-Fulton L, Arden M, Aslibekyan S, Assimes TL, Ballantyne CM, Bielak LF, Bis JC, Cade BE, Do R, Doddapaneni H, Emery LS, Hung YJ, Irvin MR, Khan AT, Lange L, Lee J, Lemaitre RN, Martin LW, Metcalf G, Montasser ME, Moon JY, Muzny D, O'Connell JR, Palmer ND, Peralta JM, Peyser PA, Stilp AM, Tsai M, Wang FF, Weeks DE, Yanek LR, Wilson JG, Abecasis G, Arnett DK, Becker LC, Blangero J, Boerwinkle E, Bowden DW, Chang YC, Chen YI, Choi WJ, Correa A, Curran JE, Daly MJ, Dutcher SK, Ellinor PT, Fornage M, Freedman BI, Gabriel S, Germer S, Gibbs RA, He J, Hveem K, Jarvik GP, Kaplan RC, Kardia SLR, Kenny E, Kim RW, Kooperberg C, Laurie CC, Lee S, Lloyd-Jones DM, Loos RJF, Lubitz SA, Mathias RA, Martinez KAV, McGarvey ST, Mitchell BD, Nickerson DA, North KE, Palotie A, Park CJ, Psaty BM, Rao DC, Redline S, Reiner AP, Seo D, Seo JS, Smith AV, Tracy RP, Vasan RS, Kathiresan S, Cupples LA, Rotter JI, Morrison AC, Rich SS, Ripatti S, Willer C, Peloso GM. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 04 12; 12(1):2182. PMID: 33846329; PMCID: PMC8042019.
    Citations: 1     Fields:    Translation:HumansCells
  25. Khurshid S, Friedman SF, Pirruccello JP, Di Achille P, Diamant N, Anderson CD, Ellinor PT, Batra P, Ho JE, Philippakis AA, Lubitz SA. Deep learning to estimate cardiac magnetic resonance-derived left ventricular mass. Cardiovasc Digit Health J. 2021 Apr; 2(2):109-117. PMID: 35265898; PMCID: PMC8890333.
    Citations: 1     
  26. Sinnott-Armstrong N, Tanigawa Y, Amar D, Mars N, Benner C, Aguirre M, Venkataraman GR, Wainberg M, Ollila HM, Kiiskinen T, Havulinna AS, Pirruccello JP, Qian J, Shcherbina A, Rodriguez F, Assimes TL, Agarwala V, Tibshirani R, Hastie T, Ripatti S, Pritchard JK, Daly MJ, Rivas MA. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat Genet. 2021 02; 53(2):185-194. PMID: 33462484; PMCID: PMC7867639.
    Citations: 62     Fields:    Translation:Humans
  27. Zekavat SM, Honigberg M, Pirruccello JP, Kohli P, Karlson EW, Newton-Cheh C, Zhao H, Natarajan P. Elevated Blood Pressure Increases Pneumonia Risk: Epidemiological Association and Mendelian Randomization in the UK Biobank. Med (N Y). 2021 02 12; 2(2):137-148.e4. PMID: 33283203; PMCID: PMC7703520.
    Citations: 9     Translation:Humans
  28. Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Neale B, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ, Terao C, Zhao H, Ebert BL, Ganna A, Machiela MJ, Genovese G, Natarajan P. Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer. medRxiv. 2020 Nov 16. PMID: 33236019.
    Citations:    
  29. Natarajan P, Zekavat S, Lin SH, Bick A, Liu A, Paruchuri K, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Pirruccello J, Pampana A, Loh PR, Kohli P, McCarroll S, Neale B, Engels E, Brown D, Smoller J, Green R, Karlson E, Lebo M, Ellinor P, Weiss S, Daly M, Terao C, Zhao H, Ebert B, Machiela M, Genovese G. Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer. Res Sq. 2020 Nov 16. PMID: 33236004; PMCID: PMC7685327.
    Citations:    
  30. Honigberg MC, Zekavat SM, Niroula A, Griffin GK, Bick AG, Pirruccello JP, Nakao T, Whitsel EA, Farland LV, Laurie C, Kooperberg C, Manson JE, Gabriel S, Libby P, Reiner AP, Ebert BL, Natarajan P. Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women. Circulation. 2021 02 02; 143(5):410-423. PMID: 33161765; PMCID: PMC7911856.
    Citations: 23     Fields:    Translation:Humans
  31. Patel AP, Wang (???) M, Pirruccello JP, Ellinor PT, Ng K, Kathiresan S, Khera AV. Lp(a) (Lipoprotein[a]) Concentrations and Incident Atherosclerotic Cardiovascular Disease: New Insights From a Large National Biobank. Arterioscler Thromb Vasc Biol. 2021 01; 41(1):465-474. PMID: 33115266.
    Citations: 19     Fields:    Translation:HumansPHPublic Health
  32. Honigberg MC, Pirruccello JP, Aragam K, Sarma AA, Scott NS, Wood MJ, Natarajan P. Menopausal age and left ventricular remodeling by cardiac magnetic resonance imaging among 14,550 women. Am Heart J. 2020 11; 229:138-143. PMID: 32827459; PMCID: PMC7669696.
    Citations: 1     Fields:    Translation:Humans
  33. Siontis KC, Yao X, Pirruccello JP, Philippakis AA, Noseworthy PA. How Will Machine Learning Inform the Clinical Care of Atrial Fibrillation? Circ Res. 2020 06 19; 127(1):155-169. PMID: 32833571.
    Citations: 8     Fields:    Translation:Humans
  34. Pirruccello JP, Bick A, Wang M, Chaffin M, Friedman S, Yao J, Guo X, Venkatesh BA, Taylor KD, Post WS, Rich S, Lima JAC, Rotter JI, Philippakis A, Lubitz SA, Ellinor PT, Khera AV, Kathiresan S, Aragam KG. Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. Nat Commun. 2020 05 07; 11(1):2254. PMID: 32382064; PMCID: PMC7206184.
    Citations: 38     Fields:    Translation:Humans
  35. Pirruccello JP, Bick A, Chaffin M, Aragam KG, Choi SH, Lubitz SA, Ho CY, Ng K, Philippakis A, Ellinor PT, Kathiresan S, Khera AV. Titin Truncating Variants in Adults Without Known Congestive Heart Failure. J Am Coll Cardiol. 2020 03 17; 75(10):1239-1241. PMID: 32164899; PMCID: PMC7433750.
    Citations: 11     Fields:    Translation:Humans
  36. Bick AG, Pirruccello JP, Griffin GK, Gupta N, Gabriel S, Saleheen D, Libby P, Kathiresan S, Natarajan P. Genetic Interleukin 6 Signaling Deficiency Attenuates Cardiovascular Risk in Clonal Hematopoiesis. Circulation. 2020 01 14; 141(2):124-131. PMID: 31707836; PMCID: PMC7008855.
    Citations: 80     Fields:    Translation:HumansCells
  37. Choi SH, Jurgens SJ, Weng LC, Pirruccello JP, Roselli C, Chaffin M, Lee CJ, Hall AW, Khera AV, Lunetta KL, Lubitz SA, Ellinor PT. Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank. Circ Res. 2020 01 17; 126(2):200-209. PMID: 31691645.
    Citations: 23     Fields:    Translation:Humans
  38. Pirruccello JP, Traynor K, Aragam KG. "Road Map" to Improving Enrollment in Cardiac Rehabilitation: Identifying Barriers and Evaluating Alternatives. J Am Heart Assoc. 2017 10 11; 6(10). PMID: 29021269.
    Citations: 5     Fields:    Translation:Humans
  39. Xu YX, Redon V, Yu H, Querbes W, Pirruccello J, Liebow A, Deik A, Trindade K, Wang X, Musunuru K, Clish CB, Cowan C, Fizgerald K, Rader D, Kathiresan S. Role of angiopoietin-like 3 (ANGPTL3) in regulating plasma level of low-density lipoprotein cholesterol. Atherosclerosis. 2018 01; 268:196-206. PMID: 29183623; PMCID: PMC5750127.
    Citations: 30     Fields:    Translation:HumansAnimalsCells
  40. Pirruccello JP, Traynor KC, Natarajan P, Brown C, Hidrue MK, Rosenfield KA, Kathiresan S, Wasfy JH. An electronic cardiac rehabilitation referral system increases cardiac rehabilitation referrals. Coron Artery Dis. 2017 Jun; 28(4):342-345. PMID: 28346284.
    Citations: 4     Fields:    Translation:Humans
  41. Patel AP, Peloso GM, Pirruccello JP, Johansen CT, Dubé JB, Larach DB, Ban MR, Dallinge-Thie GM, Gupta N, Boehnke M, Abecasis GR, Kastelein JJ, Hovingh GK, Hegele RA, Rader DJ, Kathiresan S. Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution. Atherosclerosis. 2016 07; 250:63-8. PMID: 27182959.
    Citations: 6     Fields:    Translation:Humans
  42. Cefalù AB, Pirruccello JP, Noto D, Gabriel S, Valenti V, Gupta N, Spina R, Tarugi P, Kathiresan S, Averna MR. A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia. Arterioscler Thromb Vasc Biol. 2013 Aug; 33(8):2021-5. PMID: 23723369.
    Citations: 30     Fields:    Translation:Humans
  43. Voight BF, Peloso GM, Orho-Melander M, Frikke-Schmidt R, Barbalic M, Jensen MK, Hindy G, Hólm H, Ding EL, Johnson T, Schunkert H, Samani NJ, Clarke R, Hopewell JC, Thompson JF, Li M, Thorleifsson G, Newton-Cheh C, Musunuru K, Pirruccello JP, Saleheen D, Chen L, Stewart A, Schillert A, Thorsteinsdottir U, Thorgeirsson G, Anand S, Engert JC, Morgan T, Spertus J, Stoll M, Berger K, Martinelli N, Girelli D, McKeown PP, Patterson CC, Epstein SE, Devaney J, Burnett MS, Mooser V, Ripatti S, Surakka I, Nieminen MS, Sinisalo J, Lokki ML, Perola M, Havulinna A, de Faire U, Gigante B, Ingelsson E, Zeller T, Wild P, de Bakker PI, Klungel OH, Maitland-van der Zee AH, Peters BJ, de Boer A, Grobbee DE, Kamphuisen PW, Deneer VH, Elbers CC, Onland-Moret NC, Hofker MH, Wijmenga C, Verschuren WM, Boer JM, van der Schouw YT, Rasheed A, Frossard P, Demissie S, Willer C, Do R, Ordovas JM, Abecasis GR, Boehnke M, Mohlke KL, Daly MJ, Guiducci C, Burtt NP, Surti A, Gonzalez E, Purcell S, Gabriel S, Marrugat J, Peden J, Erdmann J, Diemert P, Willenborg C, König IR, Fischer M, Hengstenberg C, Ziegler A, Buysschaert I, Lambrechts D, Van de Werf F, Fox KA, El Mokhtari NE, Rubin D, Schrezenmeir J, Schreiber S, Schäfer A, Danesh J, Blankenberg S, Roberts R, McPherson R, Watkins H, Hall AS, Overvad K, Rimm E, Boerwinkle E, Tybjaerg-Hansen A, Cupples LA, Reilly MP, Melander O, Mannucci PM, Ardissino D, Siscovick D, Elosua R, Stefansson K, O'Donnell CJ, Salomaa V, Rader DJ, Peltonen L, Schwartz SM, Altshuler D, Kathiresan S. Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet. 2012 Aug 11; 380(9841):572-80. PMID: 22607825; PMCID: PMC3419820.
    Citations: 822     Fields:    Translation:Humans
  44. Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, Fuchsberger C, Tanaka T, Morris AP, Small K, Isaacs A, Beekman M, Coassin S, Lohman K, Qi L, Kanoni S, Pankow JS, Uh HW, Wu Y, Bidulescu A, Rasmussen-Torvik LJ, Greenwood CM, Ladouceur M, Grimsby J, Manning AK, Liu CT, Kooner J, Mooser VE, Vollenweider P, Kapur KA, Chambers J, Wareham NJ, Langenberg C, Frants R, Willems-Vandijk K, Oostra BA, Willems SM, Lamina C, Winkler TW, Psaty BM, Tracy RP, Brody J, Chen I, Viikari J, Kähönen M, Pramstaller PP, Evans DM, St Pourcain B, Sattar N, Wood AR, Bandinelli S, Carlson OD, Egan JM, Böhringer S, van Heemst D, Kedenko L, Kristiansson K, Nuotio ML, Loo BM, Harris T, Garcia M, Kanaya A, Haun M, Klopp N, Wichmann HE, Deloukas P, Katsareli E, Couper DJ, Duncan BB, Kloppenburg M, Adair LS, Borja JB, Wilson JG, Musani S, Guo X, Johnson T, Semple R, Teslovich TM, Allison MA, Redline S, Buxbaum SG, Mohlke KL, Meulenbelt I, Ballantyne CM, Dedoussis GV, Hu FB, Liu Y, Paulweber B, Spector TD, Slagboom PE, Ferrucci L, Jula A, Perola M, Raitakari O, Florez JC, Salomaa V, Eriksson JG, Frayling TM, Hicks AA, Lehtimäki T, Smith GD, Siscovick DS, Kronenberg F, van Duijn C, Loos RJ, Waterworth DM, Meigs JB, Dupuis J, Richards JB, Voight BF, Scott LJ, Steinthorsdottir V, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, Willer CJ, Raychaudhuri S, McCarroll SA, Hofmann OM, Segrè AV, van Hoek M, Navarro P, Ardlie K, Balkau B, Benediktsson R, Bennett AJ, Blagieva R, Boerwinkle E, Bonnycastle LL, Boström KB, Bravenboer B, Bumpstead S, Burtt NP, Charpentier G, Chines PS, Cornelis M, Crawford G, Doney AS, Elliott KS, Elliott AL, Erdos MR, Fox CS, Franklin CS, Ganser M, Gieger C, Grarup N, Green T, Griffin S, Groves CJ, Guiducci C, Hadjadj S, Hassanali N, Herder C, Isomaa B, Jackson AU, Johnson PR, Jørgensen T, Kao WH, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, Meitinger T, Midthjell K, Morken MA, Narisu N, Nilsson P, Owen KR, Payne F, Petersen AK, Platou C, Proença C, Prokopenko I, Rathmann W, Rayner NW, Robertson NR, Rocheleau G, Roden M, Sampson MJ, Saxena R, Shields BM, Shrader P, Sigurdsson G, Sparsø T, Strassburger K, Stringham HM, Sun Q, Swift AJ, Thorand B, Tichet J, Tuomi T, van Dam RM, van Haeften TW, van Herpt T, van Vliet-Ostaptchouk JV, Walters GB, Weedon MN, Wijmenga C, Witteman J, Bergman RN, Cauchi S, Collins FS, Gloyn AL, Gyllensten U, Hansen T, Hide WA, Hitman GA, Hofman A, Hunter DJ, Hveem K, Laakso M, Morris AD, Palmer CN, Rudan I, Sijbrands E, Stein LD, Tuomilehto J, Uitterlinden A, Walker M, Watanabe RM, Abecasis GR, Boehm BO, Campbell H, et al. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet. 2012; 8(3):e1002607. PMID: 22479202; PMCID: PMC3315470.
    Citations: 242     Fields:    Translation:Humans
  45. Motazacker MM, Pirruccello J, Huijgen R, Do R, Gabriel S, Peter J, Kuivenhoven JA, Defesche JC, Kastelein JJ, Hovingh GK, Zelcer N, Kathiresan S, Fouchier SW. Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. Eur Heart J. 2012 Jun; 33(11):1360-6. PMID: 22408029.
    Citations: 22     Fields:    Translation:Humans
  46. Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, Barry AJ, Fennell T, Banks E, Ambrogio L, Cibulskis K, Kernytsky A, Gonzalez E, Rudzicz N, Engert JC, DePristo MA, Daly MJ, Cohen JC, Hobbs HH, Altshuler D, Schonfeld G, Gabriel SB, Yue P, Kathiresan S. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med. 2010 Dec 02; 363(23):2220-7. PMID: 20942659; PMCID: PMC3008575.
    Citations: 251     Fields:    Translation:Humans
  47. Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE, Ahfeldt T, Sachs KV, Li X, Li H, Kuperwasser N, Ruda VM, Pirruccello JP, Muchmore B, Prokunina-Olsson L, Hall JL, Schadt EE, Morales CR, Lund-Katz S, Phillips MC, Wong J, Cantley W, Racie T, Ejebe KG, Orho-Melander M, Melander O, Koteliansky V, Fitzgerald K, Krauss RM, Cowan CA, Kathiresan S, Rader DJ. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature. 2010 Aug 05; 466(7307):714-9. PMID: 20686566.
    Citations: 555     Fields:    Translation:HumansAnimalsCells
  48. Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts SL, Bis JC, Aulchenko YS, Thorleifsson G, Feitosa MF, Chambers J, Orho-Melander M, Melander O, Johnson T, Li X, Guo X, Li M, Shin Cho Y, Jin Go M, Jin Kim Y, Lee JY, Park T, Kim K, Sim X, Twee-Hee Ong R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF, Witteman JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB, Waterworth DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF, Vitart V, Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka T, Surakka I, Stringham HM, Spector TD, Soranzo N, Smit JH, Sinisalo J, Silander K, Sijbrands EJ, Scuteri A, Scott J, Schlessinger D, Sanna S, Salomaa V, Saharinen J, Sabatti C, Ruokonen A, Rudan I, Rose LM, Roberts R, Rieder M, Psaty BM, Pramstaller PP, Pichler I, Perola M, Penninx BW, Pedersen NL, Pattaro C, Parker AN, Pare G, Oostra BA, O'Donnell CJ, Nieminen MS, Nickerson DA, Montgomery GW, Meitinger T, McPherson R, McCarthy MI, McArdle W, Masson D, Martin NG, Marroni F, Mangino M, Magnusson PK, Lucas G, Luben R, Loos RJ, Lokki ML, Lettre G, Langenberg C, Launer LJ, Lakatta EG, Laaksonen R, Kyvik KO, Kronenberg F, König IR, Khaw KT, Kaprio J, Kaplan LM, Johansson A, Jarvelin MR, Janssens AC, Ingelsson E, Igl W, Kees Hovingh G, Hottenga JJ, Hofman A, Hicks AA, Hengstenberg C, Heid IM, Hayward C, Havulinna AS, Hastie ND, Harris TB, Haritunians T, Hall AS, Gyllensten U, Guiducci C, Groop LC, Gonzalez E, Gieger C, Freimer NB, Ferrucci L, Erdmann J, Elliott P, Ejebe KG, Döring A, Dominiczak AF, Demissie S, Deloukas P, de Geus EJ, de Faire U, Crawford G, Collins FS, Chen YD, Caulfield MJ, Campbell H, Burtt NP, Bonnycastle LL, Boomsma DI, Boekholdt SM, Bergman RN, Barroso I, Bandinelli S, Ballantyne CM, Assimes TL, Quertermous T, Altshuler D, Seielstad M, Wong TY, Tai ES, Feranil AB, Kuzawa CW, Adair LS, Taylor HA, Borecki IB, Gabriel SB, Wilson JG, Holm H, Thorsteinsdottir U, Gudnason V, Krauss RM, Mohlke KL, Ordovas JM, Munroe PB, Kooner JS, Tall AR, Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle E, Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ, Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn CM, Peltonen L, Abecasis GR, Boehnke M, Kathiresan S. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 2010 Aug 05; 466(7307):707-13. PMID: 20686565; PMCID: PMC3039276.
    Citations: 1812     Fields:    Translation:HumansAnimals
  49. Pirruccello J, Kathiresan S. Genetics of lipid disorders. Curr Opin Cardiol. 2010 May; 25(3):238-42. PMID: 20224388; PMCID: PMC3928570.
    Citations: 12     Fields:    Translation:Humans
  50. Musunuru K, Lettre G, Young T, Farlow DN, Pirruccello JP, Ejebe KG, Keating BJ, Yang Q, Chen MH, Lapchyk N, Crenshaw A, Ziaugra L, Rachupka A, Benjamin EJ, Cupples LA, Fornage M, Fox ER, Heckbert SR, Hirschhorn JN, Newton-Cheh C, Nizzari MM, Paltoo DN, Papanicolaou GJ, Patel SR, Psaty BM, Rader DJ, Redline S, Rich SS, Rotter JI, Taylor HA, Tracy RP, Vasan RS, Wilson JG, Kathiresan S, Fabsitz RR, Boerwinkle E, Gabriel SB. Candidate gene association resource (CARe): design, methods, and proof of concept. Circ Cardiovasc Genet. 2010 Jun; 3(3):267-75. PMID: 20400780; PMCID: PMC3048024.
    Citations: 111     Fields:    Translation:Humans
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.