James Pirruccello, MD

Title(s)Assistant Professor, Medicine
SchoolSchool of Medicine
Address555 Mission Bay Blvd South, #252M
San Francisco CA 94158
PronounsHe/Him/His
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    Collapse Biography 
    Collapse Education and Training
    YaleBS2006Molecular Biophysics & Biochemistry
    Johns Hopkins University School of MedicineMD2013Medicine
    Massachusetts General Hospital2016Internal Medicine Residency
    Massachusetts General Hospital2020Cardiovascular Disease Fellowship

    Collapse Overview 
    Collapse Overview
    Interested in the prevention of cardiac and aortic diseases, and in the use of genetic information to inform cardiovascular care.

    Dr. Pirruccello studies cardiovascular and aortic diseases using machine learning and genetics. He uses machine learning to quantify the heart, and to create new types of measurements that can help us to better understand health and disease. He uses genetics to analyze these measurements to gain insight into mechanisms of disease. Further, Dr. Pirruccello uses both genetics and machine learning to develop tools to better understand risk, before the onset of disease.

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    Collapse Featured Publications

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details 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. Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart. medRxiv. 2024 Nov 22. Ma XR, Conley SD, Kosicki M, Bredikhin D, Cui R, Tran S, Sheth MU, Qiu WL, Chen S, Kundu S, Kang HY, Amgalan D, Munger CJ, Duan L, Dang K, Rubio OM, Kany S, Zamirpour S, DePaolo J, Padmanabhan A, Birth Defects Research Laboratory, Olgin J, Damrauer S, Andersson R, Gu M, Priest JR, Quertermous T, Qiu X, Rabinovitch M, Visel A, Pennacchio L, Kundaje A, Glass IA, Gifford CA, Pirruccello JP, Goodyer WR, Engreitz JM. PMID: 39606363; PMCID: PMC11601760.
      View in: PubMed   Mentions:
    2. The AORTA Gene score for detection and risk stratification of ascending aortic dilation. Eur Heart J. 2024 Oct 21; 45(40):4318-4332. Pirruccello JP, Khurshid S, Lin H, Weng LC, Zamirpour S, Kany S, Raghavan A, Koyama S, Vasan RS, Benjamin EJ, Lindsay ME, Ellinor PT. PMID: 39132911; PMCID: PMC11491154.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. Epicardial and Pericardial Fat-Separated But Under the Same Roof-Reply. JAMA Cardiol. 2024 Oct 01; 9(10):949-950. Rämö JT, Ellinor PT, Pirruccello JP. PMID: 39141398.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Associations of "Weekend Warrior" Physical Activity With Incident Disease and Cardiometabolic Health. Circulation. 2024 Oct 15; 150(16):1236-1247. Kany S, Al-Alusi MA, Rämö JT, Pirruccello JP, Churchill TW, Lubitz SA, Maddah M, Guseh JS, Ellinor PT, Khurshid S. PMID: 39324186.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. Rare Genetic Variants in LDLR, APOB, and PCSK9 are Associated with Aortic Stenosis. Circulation. 2024 Sep 02. Rämö J, Jurgens SJ, Kany S, Choi SH, Wang X, Smirnov AN, Friedman SF, Maddah M, Khurshid S, Ellinor PT, Pirruccello JP. PMID: 39222019.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    6. Rare coding variant analysis for human diseases across biobanks and ancestries. Nat Genet. 2024 Sep; 56(9):1811-1820. Jurgens SJ, Wang X, Choi SH, Weng LC, Koyama S, Pirruccello JP, Nguyen T, Smadbeck P, Jang D, Chaffin M, Walsh R, Roselli C, Elliott AL, Wijdeveld LFJM, Biddinger KJ, Kany S, Rämö JT, Natarajan P, Aragam KG, Flannick J, Burtt NP, Bezzina CR, Lubitz SA, Lunetta KL, Ellinor PT. PMID: 39210047.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    7. Genetics of Cardiac Aging Implicate Organ-Specific Variation. medRxiv. 2024 Aug 06. Brundage J, Barrios JP, Tison GH, Pirruccello JP. PMID: 39148824; PMCID: PMC11326326.
      View in: PubMed   Mentions:
    8. Clonal hematopoiesis, cardiovascular events and treatment benefit in 63,700 individuals from five TIMI randomized trials. Nat Med. 2024 Sep; 30(9):2641-2647. Marston NA, Pirruccello JP, Melloni GEM, Kamanu F, Bonaca MP, Giugliano RP, Scirica BM, Wiviott SD, Bhatt DL, Steg PG, Raz I, Braunwald E, Libby P, Ellinor PT, Bick AG, Sabatine MS, Ruff CT. PMID: 39107561.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    9. Noninvasive assessment of organ-specific and shared pathways in multi-organ fibrosis using T1 mapping. Nat Med. 2024 Jun; 30(6):1749-1760. Nauffal V, Klarqvist MDR, Hill MC, Pace DF, Di Achille P, Choi SH, Rämö JT, Pirruccello JP, Singh P, Kany S, Hou C, Ng K, Philippakis AA, Batra P, Lubitz SA, Ellinor PT. PMID: 38806679.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    10. Deep learning of left atrial structure and function provides link to atrial fibrillation risk. Nat Commun. 2024 May 21; 15(1):4304. Pirruccello JP, Di Achille P, Choi SH, Rämö JT, Khurshid S, Nekoui M, Jurgens SJ, Nauffal V, Kany S, FinnGen, Ng K, Friedman SF, Batra P, Lunetta KL, Palotie A, Philippakis AA, Ho JE, Lubitz SA, Ellinor PT. PMID: 38773065; PMCID: PMC11109224.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    11. Genetically predicted gestational age and birth weight are associated with cardiac and pulmonary vascular remodelling in adulthood. Eur J Prev Cardiol. 2024 May 11; 31(7):e49-e52. Schuermans A, Ardissino M, Nauffal V, Khurshid S, Pirruccello JP, Ellinor PT, Lewandowski AJ, Natarajan P, Honigberg MC. PMID: 37694688; PMCID: PMC10925550.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    12. Cardiovascular Significance and Genetics of Epicardial and Pericardial Adiposity. JAMA Cardiol. 2024 May 01; 9(5):418-427. Rämö JT, Kany S, Hou CR, Friedman SF, Roselli C, Nauffal V, Koyama S, Karjalainen J, Maddah M, Palotie A, Ellinor PT, Pirruccello JP, FinnGen. PMID: 38477908; PMCID: PMC10938251.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    13. Improved multi-ancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk. medRxiv. 2024 Apr 16. Lu Z, Wang X, Carr M, Kim A, Gazal S, Mohammadi P, Wu L, Gusev A, Pirruccello J, Kachuri L, Mancuso N. PMID: 38699369; PMCID: PMC11065034.
      View in: PubMed   Mentions:
    14. Artificial Intelligence in Cardiovascular Care-Part 2: Applications: JACC Review Topic of the Week. J Am Coll Cardiol. 2024 Jun 18; 83(24):2487-2496. Jain SS, Elias P, Poterucha T, Randazzo M, Lopez Jimenez F, Khera R, Perez M, Ouyang D, Pirruccello J, Salerno M, Einstein AJ, Avram R, Tison GH, Nadkarni G, Natarajan V, Pierson E, Beecy A, Kumaraiah D, Haggerty C, Avari Silva JN, Maddox TM. PMID: 38593945.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    15. Artificial Intelligence for Cardiovascular Care-Part 1: Advances: JACC Review Topic of the Week. J Am Coll Cardiol. 2024 Jun 18; 83(24):2472-2486. Elias P, Jain SS, Poterucha T, Randazzo M, Lopez Jimenez F, Khera R, Perez M, Ouyang D, Pirruccello J, Salerno M, Einstein AJ, Avram R, Tison GH, Nadkarni G, Natarajan V, Pierson E, Beecy A, Kumaraiah D, Haggerty C, Avari Silva JN, Maddox TM. PMID: 38593946.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    16. Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease. Arterioscler Thromb Vasc Biol. 2024 02; 44(2):334-351. Raghavan A, Pirruccello JP, Ellinor PT, Lindsay ME. PMID: 38095107; PMCID: PMC10843699.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    17. Selenoprotein deficiency disorder predisposes to aortic aneurysm formation. Nat Commun. 2023 Dec 02; 14(1):7994. Schoenmakers E, Marelli F, Jørgensen HF, Visser WE, Moran C, Groeneweg S, Avalos C, Jurgens SJ, Figg N, Finigan A, Wali N, Agostini M, Wardle-Jones H, Lyons G, Rusk R, Gopalan D, Twiss P, Visser JJ, Goddard M, Nashef SAM, Heijmen R, Clift P, Sinha S, Pirruccello JP, Ellinor PT, Busch-Nentwich EM, Ramirez-Solis R, Murphy MP, Persani L, Bennett M, Chatterjee K. PMID: 38042913; PMCID: PMC10693596.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    18. Sex differences in ascending aortic size reporting and growth on chest computed tomography and magnetic resonance imaging. Clin Imaging. 2024 Jan; 105:110021. Zamirpour S, Boskovski MT, Pirruccello JP, Pace WA, Hubbard AE, Leach JR, Ge L, Tseng EE. PMID: 37992628.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    19. Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies. Nat Cardiovasc Res. 2023; 2(11):1078-1094. Lipov A, Jurgens SJ, Mazzarotto F, Allouba M, Pirruccello JP, Aguib Y, Gennarelli M, Yacoub MH, Ellinor PT, Bezzina CR, Walsh R. PMID: 38666070; PMCID: PMC11041721.
      View in: PubMed   Mentions: 6  
    20. AORTA Gene: Polygenic prediction improves detection of thoracic aortic aneurysm. medRxiv. 2023 Aug 25. Pirruccello JP, Khurshid S, Lin H, Lu-Chen W, Zamirpour S, Kany S, Raghavan A, Koyama S, Vasan RS, Benjamin EJ, Lindsay ME, Ellinor PT. PMID: 37662232; PMCID: PMC10473783.
      View in: PubMed   Mentions: 1  
    21. Association of genetic risk and outcomes in patients with atrial fibrillation: interactions with early rhythm control in the EAST-AFNET4 trial. Cardiovasc Res. 2023 08 07; 119(9):1799-1810. Kany S, Al-Taie C, Roselli C, Pirruccello JP, Borof K, Reinbold C, Suling A, Krause L, Reissmann B, Schnabel RB, Zeller T, Zapf A, Wegscheider K, Fabritz L, Ellinor PT, Kirchhof P. PMID: 37264683; PMCID: PMC10405565.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    22. The Cardiovascular Impact and Genetics of Pericardial Adiposity. medRxiv. 2023 Jul 18. Rämö JT, Kany S, Hou CR, Friedman SF, Roselli C, Nauffal V, Koyama S, Karjalainen J, FinnGen, Maddah M, Palotie A, Ellinor PT, Pirruccello JP. PMID: 37502935; PMCID: PMC10371191.
      View in: PubMed   Mentions:
    23. Machine learning-based markers for CAD. Lancet. 2023 07 15; 402(10397):182-183. Elliott A, Pirruccello JP. PMID: 37453748.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    24. Author Correction: Clonal haematopoiesis and risk of chronic liver disease. Nature. 2023 Jul; 619(7970):E47. Wong WJ, Emdin C, Bick AG, Zekavat SM, Niroula A, Pirruccello JP, Dichtel L, Griffin G, Uddin MM, Gibson CJ, Kovalcik V, Lin AE, McConkey ME, Vromman A, Sellar RS, Kim PG, Agrawal M, Weinstock J, Long MT, Yu B, Banerjee R, Nicholls RC, Dennis A, Kelly M, Loh PR, McCarroll S, Boerwinkle E, Vasan RS, Jaiswal S, Johnson AD, Chung RT, Corey K, Levy D, Ballantyne C, NHLBI TOPMed Hematology Working Group, Ebert BL, Natarajan P. PMID: 37400552.
      View in: PubMed   Mentions:    Fields:    
    25. Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program. Nat Genet. 2023 07; 55(7):1106-1115. Klarin D, Devineni P, Sendamarai AK, Angueira AR, Graham SE, Shen YH, Levin MG, Pirruccello JP, Surakka I, Karnam PR, Roychowdhury T, Li Y, Wang M, Aragam KG, Paruchuri K, Zuber V, Shakt GE, Tsao NL, Judy RL, Vy HMT, Verma SS, Rader DJ, Do R, Bavaria JE, Nadkarni GN, Ritchie MD, VA Million Veteran Program, Burgess S, Guo DC, Ellinor PT, LeMaire SA, Milewicz DM, Willer CJ, Natarajan P, Tsao PS, Pyarajan S, Damrauer SM. PMID: 37308786; PMCID: PMC10335930.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    26. Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms. Circ Genom Precis Med. 2023 08; 16(4):340-349. Wang X, Khurshid S, Choi SH, Friedman S, Weng LC, Reeder C, Pirruccello JP, Singh P, Lau ES, Venn R, Diamant N, Di Achille P, Philippakis A, Anderson CD, Ho JE, Ellinor PT, Batra P, Lubitz SA. PMID: 37278238; PMCID: PMC10524395.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    27. Increased Risk of Thoracic Aortic Aneurysms With JAK2 V617F. J Am Coll Cardiol. 2023 05 30; 81(21):2128-2130. Nakao T, Yu Z, Vlasschaert C, Uddin MM, Lindsay ME, Ellinor PT, Ebert BL, Bick AG, Pirruccello JP, Natarajan P. PMID: 37225367; PMCID: PMC10321138.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    28. Assessment of valvular function in over 47,000 people using deep learning-based flow measurements. medRxiv. 2023 May 01. Kany S, Rämö JT, Hou C, Jurgens SJ, Nauffal V, Cunningham J, Lau ES, Butte AJ, Ho JE, Olgin JE, Elmariah S, Lindsay ME, Ellinor PT, Pirruccello JP. PMID: 37205587; PMCID: PMC10187336.
      View in: PubMed   Mentions:
    29. A human FLII gene variant alters sarcomeric actin thin filament length and predisposes to cardiomyopathy. Proc Natl Acad Sci U S A. 2023 05 09; 120(19):e2213696120. Kuwabara Y, York AJ, Lin SC, Sargent MA, Grimes KM, Pirruccello JP, Molkentin JD. PMID: 37126682; PMCID: PMC10175844.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    30. Genetics of myocardial interstitial fibrosis in the human heart and association with disease. Nat Genet. 2023 05; 55(5):777-786. Nauffal V, Di Achille P, Klarqvist MDR, Cunningham JW, Hill MC, Pirruccello JP, Weng LC, Morrill VN, Choi SH, Khurshid S, Friedman SF, Nekoui M, Roselli C, Ng K, Philippakis AA, Batra P, Ellinor PT, Lubitz SA. PMID: 37081215; PMCID: PMC11107861.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    31. Clonal haematopoiesis and risk of chronic liver disease. Nature. 2023 Apr; 616(7958):747-754. Wong WJ, Emdin C, Bick AG, Zekavat SM, Niroula A, Pirruccello JP, Dichtel L, Griffin G, Uddin MM, Gibson CJ, Kovalcik V, Lin AE, McConkey ME, Vromman A, Sellar RS, Kim PG, Agrawal M, Weinstock J, Long MT, Yu B, Banerjee R, Nicholls RC, Dennis A, Kelly M, Loh PR, McCarroll S, Boerwinkle E, Vasan RS, Jaiswal S, Johnson AD, Chung RT, Corey K, Levy D, Ballantyne C, NHLBI TOPMed Hematology Working Group, Ebert BL, Natarajan P. PMID: 37046084; PMCID: PMC10405350.
      View in: PubMed   Mentions: 48     Fields:    Translation:Animals
    32. The Genetic Determinants of Aortic Distention. J Am Coll Cardiol. 2023 04 11; 81(14):1320-1335. Pirruccello JP, Rämö JT, Choi SH, Chaffin MD, Kany S, Nekoui M, Chou EL, Jurgens SJ, Friedman SF, Juric D, Stone JR, Batra P, Ng K, Philippakis AA, Lindsay ME, Ellinor PT. PMID: 37019578; PMCID: PMC11246604.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    33. Adjusting for common variant polygenic scores improves yield in rare variant association analyses. Nat Genet. 2023 04; 55(4):544-548. Jurgens SJ, Pirruccello JP, Choi SH, Morrill VN, Chaffin M, Lubitz SA, Lunetta KL, Ellinor PT. PMID: 36959364; PMCID: PMC11078202.
      View in: PubMed   Mentions: 14     Fields:    
    34. Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass. Nat Commun. 2023 03 21; 14(1):1558. Khurshid S, Lazarte J, Pirruccello JP, Weng LC, Choi SH, Hall AW, Wang X, Friedman SF, Nauffal V, Biddinger KJ, Aragam KG, Batra P, Ho JE, Philippakis AA, Ellinor PT, Lubitz SA. PMID: 36944631; PMCID: PMC10030590.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    35. Predictive Utility of a Coronary Artery Disease Polygenic Risk Score in Primary Prevention. JAMA Cardiol. 2023 02 01; 8(2):130-137. Marston NA, Pirruccello JP, Melloni GEM, Koyama S, Kamanu FK, Weng LC, Roselli C, Kamatani Y, Komuro I, Aragam KG, Butterworth AS, Ito K, Lubitz SA, Ellinor PT, Sabatine MS, Ruff CT. PMID: 36576811; PMCID: PMC9857431.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansPHPublic Health
    36. TP53-mediated clonal hematopoiesis confers increased risk for incident atherosclerotic disease. Nat Cardiovasc Res. 2023 Jan 16; 2:144-158. Zekavat SM, Viana-Huete V, Matesanz N, Jorshery SD, Zuriaga MA, Uddin MM, Trinder M, Paruchuri K, Zorita V, Ferrer-Pérez A, Amorós-Pérez M, Kunderfranco P, Carriero R, Greco CM, Aroca-Crevillen A, Hidalgo A, Damrauer SM, Ballantyne CM, Niroula A, Gibson CJ, Pirruccello J, Griffin G, Ebert BL, Libby P, Fuster V, Zhao H, Ghassemi M, Natarajan P, Bick AG, Fuster JJ, Klarin D. PMID: 36949957; PMCID: PMC10026701.
      View in: PubMed   Mentions: 39  
    37. Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch. Circ Genom Precis Med. 2023 02; 16(1):e003676. Cunningham JW, Di Achille P, Morrill VN, Weng LC, Choi SH, Khurshid S, Nauffal V, Pirruccello JP, Solomon SD, Batra P, Ho JE, Philippakis AA, Ellinor PT, Lubitz SA. PMID: 36580284; PMCID: PMC9975074.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    38. Development of a Prediction Model for Ascending Aortic Diameter Among Asymptomatic Individuals. JAMA. 2022 11 15; 328(19):1935-1944. Pirruccello JP, Lin H, Khurshid S, Nekoui M, Weng LC, Vasan RS, Isselbacher EM, Benjamin EJ, Lubitz SA, Lindsay ME, Ellinor PT. PMID: 36378208; PMCID: PMC9667326.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    39. Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics. Obesity (Silver Spring). 2022 12; 30(12):2477-2488. 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. PMID: 36372681; PMCID: PMC9691570.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    40. Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes. Nat Commun. 2022 Sep 30; 13(1):5767. 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, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Sabatine MS, Ruff CT, Lunetta KL, Ellinor PT, Lubitz SA. PMID: 36180445; PMCID: PMC9525665.
      View in: PubMed   Mentions:    Fields:    
    41. 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 11; 42(11):1355-1374. 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. PMID: 36172868; PMCID: PMC9613617.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    42. Genetics and mechanisms of thoracic aortic disease. Nat Rev Cardiol. 2023 03; 20(3):168-180. Chou E, Pirruccello JP, Ellinor PT, Lindsay ME. PMID: 36131050.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    43. Wearable accelerometer-derived physical activity and incident disease. NPJ Digit Med. 2022 Sep 02; 5(1):131. Khurshid S, Weng LC, Nauffal V, Pirruccello JP, Venn RA, Al-Alusi MA, Benjamin EJ, Ellinor PT, Lubitz SA. PMID: 36056190; PMCID: PMC9440134.
      View in: PubMed   Mentions: 12  
    44. Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes. Nat Commun. 2022 08 30; 13(1):5106. 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, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Sabatine MS, Ruff CT, Lunetta KL, Ellinor PT, Lubitz SA. PMID: 36042188; PMCID: PMC9427940.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    45. Spatially Distinct Genetic Determinants of Aortic Dimensions Influence Risks of Aneurysm and Stenosis. J Am Coll Cardiol. 2022 08 02; 80(5):486-497. 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. PMID: 35902171; PMCID: PMC11216157.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    46. LMNA Variants and Risk of Adult-Onset Cardiac Disease. J Am Coll Cardiol. 2022 07 05; 80(1):50-59. 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. PMID: 35772917; PMCID: PMC11071053.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    47. 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. Patel AP, Dron JS, Wang M, Pirruccello JP, Ng K, Natarajan P, Lebo M, Ellinor PT, Aragam KG, Khera AV. PMID: 35544052; PMCID: PMC9096692.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    48. Genetic analysis of right heart structure and function in 40,000 people. Nat Genet. 2022 06; 54(6):792-803. 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, BioBank Japan Project, Jurgens SJ, Benjamin EJ, Batra P, Natarajan P, Ng K, Hoffmann U, Lubitz SA, Ho JE, Lindsay ME, Philippakis AA, Ellinor PT. PMID: 35697867; PMCID: PMC10313645.
      View in: PubMed   Mentions: 31     Fields:    Translation:Humans
    49. Genetic Association of Body Mass Index With Pathologic Left Ventricular Remodeling. J Am Heart Assoc. 2022 04 19; 11(8):e024408. Biddinger KJ, Pirruccello JP, Khurshid S, Natarajan P, Ho JE, Lubitz SA, Ellinor PT, Aragam KG. PMID: 35383479; PMCID: PMC9238453.
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    50. Fibrillar Collagen Variants in Spontaneous Coronary Artery Dissection. JAMA Cardiol. 2022 04 01; 7(4):396-406. 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. PMID: 35234813; PMCID: PMC8892371.
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    51. 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. Georgakis MK, Parodi L, Frerich S, Mayerhofer E, Tsivgoulis G, Pirruccello JP, Slowik A, Rundek T, Malik R, Dichgans M, Rosand J, Anderson CD, NINDS Stroke Genetics Network (SiGN). PMID: 35178771.
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    52. 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. 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, Regeneron Genetics Center, Aragam KG, Lunetta KL, Haggerty CM, Lubitz SA, Ellinor PT. PMID: 35177841; PMCID: PMC8930703.
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    53. Machine learning enables new insights into genetic contributions to liver fat accumulation. Cell Genom. 2021 Dec 08; 1(3). 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. PMID: 34957434; PMCID: PMC8699145.
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    54. Deep learning enables genetic analysis of the human thoracic aorta. Nat Genet. 2022 01; 54(1):40-51. 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. PMID: 34837083; PMCID: PMC8758523.
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    55. Author Correction: Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat Genet. 2021 Nov; 53(11):1622. 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, FinnGen, Rodriguez F, Assimes TL, Agarwala V, Tibshirani R, Hastie T, Ripatti S, Pritchard JK, Daly MJ, Rivas MA. PMID: 34608296.
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    56. Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis. J Exp Med. 2021 12 06; 218(12). 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. PMID: 34698806; PMCID: PMC8552148.
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    57. Association of Diet Quality With Prevalence of Clonal Hematopoiesis and Adverse Cardiovascular Events. JAMA Cardiol. 2021 09 01; 6(9):1069-1077. Bhattacharya R, Zekavat SM, Uddin MM, Pirruccello J, Niroula A, Gibson C, Griffin GK, Libby P, Ebert BL, Bick A, Natarajan P. PMID: 34106216; PMCID: PMC8190703.
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    58. 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. Khurshid S, Friedman S, Pirruccello JP, Di Achille P, Diamant N, Anderson CD, Ellinor PT, Batra P, Ho JE, Philippakis AA, Lubitz SA. PMID: 34126762; PMCID: PMC8217289.
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    59. Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection. Nat Med. 2021 06; 27(6):1012-1024. 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, Biobank Japan Project, FinnGen Consortium, Terao C, Zhao H, Ebert BL, Reilly MP, Ganna A, Machiela MJ, Genovese G, Natarajan P. PMID: 34099924; PMCID: PMC8245201.
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    60. Cardiovascular and Kidney Outcomes Across the Glycemic Spectrum: Insights From the UK Biobank. J Am Coll Cardiol. 2021 08 03; 78(5):453-464. Honigberg MC, Zekavat SM, Pirruccello JP, Natarajan P, Vaduganathan M. PMID: 34015477; PMCID: PMC8324525.
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    61. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 04 12; 12(1):2182. 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, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, FinnGen, Peloso GM. PMID: 33846329; PMCID: PMC8042019.
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    62. Deep learning to estimate cardiac magnetic resonance-derived left ventricular mass. Cardiovasc Digit Health J. 2021 Apr; 2(2):109-117. Khurshid S, Friedman SF, Pirruccello JP, Di Achille P, Diamant N, Anderson CD, Ellinor PT, Batra P, Ho JE, Philippakis AA, Lubitz SA. PMID: 35265898; PMCID: PMC8890333.
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    63. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nat Genet. 2021 02; 53(2):185-194. 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, FinnGen, Rodriguez F, Assimes TL, Agarwala V, Tibshirani R, Hastie T, Ripatti S, Pritchard JK, Daly MJ, Rivas MA. PMID: 33462484; PMCID: PMC7867639.
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    64. Elevated Blood Pressure Increases Pneumonia Risk: Epidemiological Association and Mendelian Randomization in the UK Biobank. Med. 2021 02 12; 2(2):137-148.e4. Zekavat SM, Honigberg M, Pirruccello JP, Kohli P, Karlson EW, Newton-Cheh C, Zhao H, Natarajan P. PMID: 33283203; PMCID: PMC7703520.
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    65. Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer. Res Sq. 2020 Nov 16. 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. PMID: 33236004; PMCID: PMC7685327.
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    66. Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer. medRxiv. 2020 Nov 16. 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, Biobank Japan Project, FinnGen Consortium, Terao C, Zhao H, Ebert BL, COVID-19 Host Genetics Initiative, Ganna A, Machiela MJ, Genovese G, Natarajan P. PMID: 33236019; PMCID: PMC7685330.
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    67. Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women. Circulation. 2021 02 02; 143(5):410-423. 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, NHLBI Trans-Omics for Precision Medicine Program, Natarajan P. PMID: 33161765; PMCID: PMC7911856.
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    68. 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. Patel AP, Wang (???) M, Pirruccello JP, Ellinor PT, Ng K, Kathiresan S, Khera AV. PMID: 33115266; PMCID: PMC7769893.
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    69. Menopausal age and left ventricular remodeling by cardiac magnetic resonance imaging among 14,550 women. Am Heart J. 2020 11; 229:138-143. Honigberg MC, Pirruccello JP, Aragam K, Sarma AA, Scott NS, Wood MJ, Natarajan P. PMID: 32827459; PMCID: PMC7669696.
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    70. How Will Machine Learning Inform the Clinical Care of Atrial Fibrillation? Circ Res. 2020 06 19; 127(1):155-169. Siontis KC, Yao X, Pirruccello JP, Philippakis AA, Noseworthy PA. PMID: 32833571.
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    71. Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. Nat Commun. 2020 05 07; 11(1):2254. 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. PMID: 32382064; PMCID: PMC7206184.
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    72. Titin Truncating Variants in Adults Without Known Congestive Heart Failure. J Am Coll Cardiol. 2020 03 17; 75(10):1239-1241. Pirruccello JP, Bick A, Chaffin M, Aragam KG, Choi SH, Lubitz SA, Ho CY, Ng K, Philippakis A, Ellinor PT, Kathiresan S, Khera AV. PMID: 32164899; PMCID: PMC7433750.
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    73. Genetic Interleukin 6 Signaling Deficiency Attenuates Cardiovascular Risk in Clonal Hematopoiesis. Circulation. 2020 01 14; 141(2):124-131. Bick AG, Pirruccello JP, Griffin GK, Gupta N, Gabriel S, Saleheen D, Libby P, Kathiresan S, Natarajan P. PMID: 31707836; PMCID: PMC7008855.
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    74. Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank. Circ Res. 2020 01 17; 126(2):200-209. Choi SH, Jurgens SJ, Weng LC, Pirruccello JP, Roselli C, Chaffin M, Lee CJ, Hall AW, Khera AV, Lunetta KL, Lubitz SA, Ellinor PT. PMID: 31691645; PMCID: PMC7007701.
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    75. "Road Map" to Improving Enrollment in Cardiac Rehabilitation: Identifying Barriers and Evaluating Alternatives. J Am Heart Assoc. 2017 10 11; 6(10). Pirruccello JP, Traynor K, Aragam KG. PMID: 29021269; PMCID: PMC5721899.
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    76. Role of angiopoietin-like 3 (ANGPTL3) in regulating plasma level of low-density lipoprotein cholesterol. Atherosclerosis. 2018 01; 268:196-206. 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. PMID: 29183623; PMCID: PMC5750127.
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    77. An electronic cardiac rehabilitation referral system increases cardiac rehabilitation referrals. Coron Artery Dis. 2017 Jun; 28(4):342-345. Pirruccello JP, Traynor KC, Natarajan P, Brown C, Hidrue MK, Rosenfield KA, Kathiresan S, Wasfy JH. PMID: 28346284.
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    78. Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution. Atherosclerosis. 2016 07; 250:63-8. 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. PMID: 27182959; PMCID: PMC4907838.
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    79. 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. Cefalù AB, Pirruccello JP, Noto D, Gabriel S, Valenti V, Gupta N, Spina R, Tarugi P, Kathiresan S, Averna MR. PMID: 23723369; PMCID: PMC3870266.
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    80. Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet. 2012 Aug 11; 380(9841):572-80. 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. PMID: 22607825; PMCID: PMC3419820.
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    81. 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. 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, DIAGRAM+ Consortium, MAGIC Consortium, GLGC Investigators, MuTHER Consortium, 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, Daly MJ, Hattersley AT, Pedersen O, Barroso I, Groop L, Sladek R, Thorsteinsdottir U, Wilson JF, Illig T, Froguel P, van Duijn CM, Stefansson K, Altshuler D, Boehnke M, McCarthy MI, Soranzo N, Wheeler E, Glazer NL, Bouatia-Naji N, Mägi R, Randall J, Elliott P, Rybin D, Dehghan A, Hottenga JJ, Song K, Goel A, Lajunen T, Doney A, Cavalcanti-Proença C, Kumari M, Timpson NJ, Zabena C, Ingelsson E, An P, O'Connell J, Luan J, Elliott A, McCarroll SA, Roccasecca RM, Pattou F, Sethupathy P, Ariyurek Y, Barter P, Beilby JP, Ben-Shlomo Y, Bergmann S, Bochud M, Bonnefond A, Borch-Johnsen K, Böttcher Y, Brunner E, Bumpstead SJ, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN, Crisponi L, Day IN, de Geus EJ, Delplanque J, Fedson AC, Fischer-Rosinsky A, Forouhi NG, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Grundy S, Gwilliam R, Hallmans G, Hammond N, et al. PMID: 22479202; PMCID: PMC3315470.
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    82. Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. Eur Heart J. 2012 Jun; 33(11):1360-6. 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. PMID: 22408029.
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    83. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med. 2010 Dec 02; 363(23):2220-7. 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. PMID: 20942659; PMCID: PMC3008575.
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    84. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 2010 Aug 05; 466(7307):707-13. 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. PMID: 20686565; PMCID: PMC3039276.
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    85. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature. 2010 Aug 05; 466(7307):714-9. 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. PMID: 20686566; PMCID: PMC3062476.
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