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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.
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PubMed Mentions:
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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.
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PubMed Mentions: Fields:
Translation:
Humans
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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.
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PubMed Mentions: Fields:
Translation:
Humans
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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.
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PubMed Mentions: Fields:
Translation:
Humans
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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.
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PubMed Mentions: Fields:
Translation:
Humans
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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.
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PubMed Mentions:
3 Fields:
Translation:
Humans
-
Genetics of Cardiac Aging Implicate Organ-Specific Variation. medRxiv. 2024 Aug 06.
Brundage J, Barrios JP, Tison GH, Pirruccello JP. PMID: 39148824; PMCID: PMC11326326.
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PubMed Mentions:
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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.
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PubMed Mentions: Fields:
Translation:
Humans
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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.
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PubMed Mentions:
1 Fields:
Translation:
Humans
-
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.
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PubMed Mentions:
3 Fields:
Translation:
Humans
-
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.
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PubMed Mentions: Fields:
Translation:
Humans
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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.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
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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.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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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.
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PubMed Mentions: Fields:
Translation:
HumansAnimals
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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.
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PubMed Mentions:
3 Fields:
Translation:
HumansAnimalsCells
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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.
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PubMed Mentions:
1 Fields:
Translation:
Humans
-
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.
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PubMed Mentions:
5
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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.
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PubMed Mentions:
1
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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.
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PubMed Mentions:
2 Fields:
Translation:
Humans
-
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.
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PubMed Mentions:
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Machine learning-based markers for CAD. Lancet. 2023 07 15; 402(10397):182-183.
Elliott A, Pirruccello JP. PMID: 37453748.
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PubMed Mentions: Fields:
Translation:
Humans
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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.
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PubMed Mentions: Fields:
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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.
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PubMed Mentions:
12 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
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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.
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PubMed Mentions:
4 Fields:
Translation:
HumansAnimalsCells
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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.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
46 Fields:
Translation:
Animals
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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.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
13 Fields:
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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.
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PubMed Mentions:
11 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
25 Fields:
Translation:
HumansPHPublic Health
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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.
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PubMed Mentions:
36
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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.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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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.
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PubMed Mentions: Fields:
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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.
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PubMed Mentions:
16 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
14 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
11
-
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.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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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
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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.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
30 Fields:
Translation:
Humans
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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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PubMed Mentions:
1 Fields:
Translation:
Humans
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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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PubMed Mentions:
11 Fields:
Translation:
HumansAnimals
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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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PubMed Mentions:
5 Fields:
Translation:
Humans
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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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PubMed Mentions:
60 Fields:
Translation:
Humans
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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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PubMed Mentions:
30 Fields:
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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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PubMed Mentions:
68 Fields:
Translation:
HumansCells
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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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PubMed Mentions:
3 Fields:
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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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PubMed Mentions:
51 Fields:
Translation:
HumansAnimalsCells
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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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PubMed Mentions:
34 Fields:
Translation:
Humans
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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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PubMed Mentions:
19 Fields:
Translation:
Humans
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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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PubMed Mentions:
83 Fields:
Translation:
Humans
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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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PubMed Mentions:
29 Fields:
Translation:
Humans
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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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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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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.
View in:
PubMed Mentions:
4
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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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PubMed Mentions:
284 Fields:
Translation:
Humans
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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.
View in:
PubMed Mentions:
16 Fields:
Translation:
Humans
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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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PubMed Mentions:
3
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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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PubMed Mentions:
1
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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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PubMed Mentions:
61 Fields:
Translation:
Humans
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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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PubMed Mentions:
108 Fields:
Translation:
HumansPHPublic Health
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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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PubMed Mentions:
3 Fields:
Translation:
Humans
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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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PubMed Mentions:
22 Fields:
Translation:
Humans
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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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PubMed Mentions:
96 Fields:
Translation:
Humans
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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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PubMed Mentions:
13 Fields:
Translation:
Humans
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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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PubMed Mentions:
172 Fields:
Translation:
HumansCells
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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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PubMed Mentions:
46 Fields:
Translation:
Humans
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"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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PubMed Mentions:
6 Fields:
Translation:
Humans
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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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PubMed Mentions:
44 Fields:
Translation:
HumansAnimalsCells
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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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PubMed Mentions:
7 Fields:
Translation:
Humans
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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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PubMed Mentions:
7 Fields:
Translation:
Humans
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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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PubMed Mentions:
39 Fields:
Translation:
Humans
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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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PubMed Mentions:
958 Fields:
Translation:
Humans
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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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PubMed Mentions:
281 Fields:
Translation:
Humans
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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.
View in:
PubMed Mentions:
29 Fields:
Translation:
Humans
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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.
View in:
PubMed Mentions:
310 Fields:
Translation:
Humans
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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.
View in:
PubMed Mentions:
605 Fields:
Translation:
HumansAnimalsCells
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Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 2010 Aug 05; 466(7307):707-13.
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Genetics of lipid disorders. Curr Opin Cardiol. 2010 May; 25(3):238-42.
Pirruccello J, Kathiresan S. PMID: 20224388; PMCID: PMC3928570.
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Candidate gene association resource (CARe): design, methods, and proof of concept. Circ Cardiovasc Genet. 2010 Jun; 3(3):267-75.
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