Home > People > James Pirruccello, MD, BS

James Pirruccello, MD, BS

Assistant Professor
Medicine
Address: 
555 Mission Bay Blvd South, Rm 252M
UCSF Box 3118
San Francisco, CA 94158
United States
Email: 

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.

Research Interests: 
Deep learning and cardiovascular genetics
Publications: 

Unsupervised deep learning of electrocardiograms enables scalable human disease profiling.

NPJ digital medicine

Friedman SF, Khurshid S, Venn RA, Wang X, Diamant N, Di Achille P, Weng LC, Choi SH, Reeder C, Pirruccello JP, Singh P, Lau ES, Philippakis A, Anderson CD, Maddah M, Batra P, Ellinor PT, Ho JE, Lubitz SA

Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart.

medRxiv : the preprint server for health sciences

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

The AORTA Gene score for detection and risk stratification of ascending aortic dilation.

European heart journal

Pirruccello JP, Khurshid S, Lin H, Weng LC, Zamirpour S, Kany S, Raghavan A, Koyama S, Vasan RS, Benjamin EJ, Lindsay ME, Ellinor PT

Epicardial and Pericardial Fat-Separated But Under the Same Roof-Reply.

JAMA cardiology

Rämö JT, Ellinor PT, Pirruccello JP

Associations of "Weekend Warrior" Physical Activity With Incident Disease and Cardiometabolic Health.

Circulation

Kany S, Al-Alusi MA, Rämö JT, Pirruccello JP, Churchill TW, Lubitz SA, Maddah M, Guseh JS, Ellinor PT, Khurshid S

Rare Genetic Variants in LDLR, APOB, and PCSK9 are Associated with Aortic Stenosis.

Circulation

Rämö J, Jurgens SJ, Kany S, Choi SH, Wang X, Smirnov AN, Friedman SF, Maddah M, Khurshid S, Ellinor PT, Pirruccello JP

Rare coding variant analysis for human diseases across biobanks and ancestries.

Nature genetics

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

Clonal hematopoiesis, cardiovascular events and treatment benefit in 63,700 individuals from five TIMI randomized trials.

Nature medicine

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

Genetics of Cardiac Aging Implicate Organ-Specific Variation.

medRxiv : the preprint server for health sciences

Brundage J, Barrios JP, Tison GH, Pirruccello JP

Noninvasive assessment of organ-specific and shared pathways in multi-organ fibrosis using T1 mapping.

Nature medicine

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

Deep learning of left atrial structure and function provides link to atrial fibrillation risk.

Nature communications

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

Genetically Predicted Gestational Age and Birth Weight Are Associated With Cardiac and Pulmonary Vascular Remodeling in Adulthood.

European journal of preventive cardiology

Schuermans A, Ardissino M, Nauffal V, Khurshid S, Pirruccello JP, Ellinor PT, Lewandowski AJ, Natarajan P, Honigberg MC

Cardiovascular Significance and Genetics of Epicardial and Pericardial Adiposity.

JAMA cardiology

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

Improved multi-ancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk.

medRxiv : the preprint server for health sciences

Lu Z, Wang X, Carr M, Kim A, Gazal S, Mohammadi P, Wu L, Gusev A, Pirruccello J, Kachuri L, Mancuso N

Artificial Intelligence for Cardiovascular Care - Part 1: Advances: JACC Review Topic of the Week.

Journal of the American College of Cardiology

Elias P, Jain S, Poterucha T, Randazzo M, Lopez Jimenez F, Khera R, Perez M, Ouyang D, Pirruccello J, Salerno M, Einstein A, Avram R, Tison G, Nadkarni G, Natarajan V, Pierson E, Beecy A, Kumaraiah D, Haggerty C, Avari Silva JN, Maddox TM

Artificial Intelligence in Cardiovascular Care - Part 2: Applications: JACC Review Topic of the Week.

Journal of the American College of Cardiology

Jain S, Elias P, Poterucha T, Randazzo M, Lopez Jimenez F, Khera R, Perez M, Ouyang D, Pirruccello J, Salerno M, Einstein A, Avram R, Tison G, Nadkarni G, Natarajan V, Pierson E, Beecy A, Kumaraiah D, Haggerty C, Avari Silva JN, Maddox TM

Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease.

Arteriosclerosis, thrombosis, and vascular biology

Raghavan A, Pirruccello JP, Ellinor PT, Lindsay ME

Selenoprotein deficiency disorder predisposes to aortic aneurysm formation.

Nature communications

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

Sex differences in ascending aortic size reporting and growth on chest computed tomography and magnetic resonance imaging.

Clinical imaging

Zamirpour S, Boskovski MT, Pirruccello JP, Pace WA, Hubbard AE, Leach JR, Ge L, Tseng EE

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Nature Cardiovascular Research

Lipov A, Jurgens SJ, Mazzarotto F, Allouba M, Pirruccello JP, Aguib Y, Gennarelli M, Yacoub MH, Ellinor PT, Bezzina CR, Walsh R

AORTA Gene: Polygenic prediction improves detection of thoracic aortic aneurysm.

medRxiv : the preprint server for health sciences

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

Association of genetic risk and outcomes in patients with atrial fibrillation: interactions with early rhythm control in the EAST-AFNET4 trial.

Cardiovascular research

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

The Cardiovascular Impact and Genetics of Pericardial Adiposity.

medRxiv : the preprint server for health sciences

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

Machine learning-based markers for CAD.

Lancet (London, England)

Elliott A, Pirruccello JP

Author Correction: Clonal haematopoiesis and risk of chronic liver disease.

Nature

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

Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program.

Nature genetics

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

Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms.

Circulation. Genomic and precision medicine

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

Increased Risk of Thoracic Aortic Aneurysms With JAK2 V617F.

Journal of the American College of Cardiology

Nakao T, Yu Z, Vlasschaert C, Uddin MM, Lindsay ME, Ellinor PT, Ebert BL, Bick AG, Pirruccello JP, Natarajan P

A human FLII gene variant alters sarcomeric actin thin filament length and predisposes to cardiomyopathy.

Proceedings of the National Academy of Sciences of the United States of America

Kuwabara Y, York AJ, Lin SC, Sargent MA, Grimes KM, Pirruccello JP, Molkentin JD

Assessment of valvular function in over 47,000 people using deep learning-based flow measurements.

medRxiv : the preprint server for health sciences

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

Genetics of myocardial interstitial fibrosis in the human heart and association with disease.

Nature genetics

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

Clonal haematopoiesis and risk of chronic liver disease.

Nature

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

The Genetic Determinants of Aortic Distention.

Journal of the American College of Cardiology

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

Adjusting for common variant polygenic scores improves yield in rare variant association analyses.

Nature genetics

Jurgens SJ, Pirruccello JP, Choi SH, Morrill VN, Chaffin M, Lubitz SA, Lunetta KL, Ellinor PT

Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass.

Nature communications

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

Predictive Utility of a Coronary Artery Disease Polygenic Risk Score in Primary Prevention.

JAMA cardiology

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

TP53-mediated clonal hematopoiesis confers increased risk for incident atherosclerotic disease.

Nature Cardiovascular Research

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

Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch.

Circulation. Genomic and precision medicine

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

Development of a Prediction Model for Ascending Aortic Diameter Among Asymptomatic Individuals.

JAMA

Pirruccello JP, Lin H, Khurshid S, Nekoui M, Weng LC, Vasan RS, Isselbacher EM, Benjamin EJ, Lubitz SA, Lindsay ME, Ellinor PT

Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics.

Obesity (Silver Spring, Md.)

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

Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature communications

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

Aortic Cellular Diversity and Quantitative Genome-Wide Association Study Trait Prioritization Through Single-Nuclear RNA Sequencing of the Aneurysmal Human Aorta.

Arteriosclerosis, thrombosis, and vascular biology

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

Genetics and mechanisms of thoracic aortic disease.

Nature reviews. Cardiology

Chou E, Pirruccello JP, Ellinor PT, Lindsay ME

Wearable accelerometer-derived physical activity and incident disease.

NPJ digital medicine

Khurshid S, Weng LC, Nauffal V, Pirruccello JP, Venn RA, Al-Alusi MA, Benjamin EJ, Ellinor PT, Lubitz SA

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature communications

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

Spatially Distinct Genetic Determinants of Aortic Dimensions Influence Risks of Aneurysm and Stenosis.

Journal of the American College of Cardiology

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

LMNA Variants and Risk of Adult-Onset Cardiac Disease.

Journal of the American College of Cardiology

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

Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.

JAMA cardiology

Patel AP, Dron JS, Wang M, Pirruccello JP, Ng K, Natarajan P, Lebo M, Ellinor PT, Aragam KG, Khera AV

Genetic analysis of right heart structure and function in 40,000 people.

Nature genetics

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

Genetic Association of Body Mass Index With Pathologic Left Ventricular Remodeling.

Journal of the American Heart Association

Biddinger KJ, Pirruccello JP, Khurshid S, Natarajan P, Ho JE, Lubitz SA, Ellinor PT, Aragam KG

Fibrillar Collagen Variants in Spontaneous Coronary Artery Dissection.

JAMA cardiology

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

Genetic Architecture of Stroke of Undetermined Source: Overlap with Known Stroke Etiologies and Associations with Modifiable Risk Factors.

Annals of neurology

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)

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.

Nature genetics

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

Machine learning enables new insights into genetic contributions to liver fat accumulation.

Cell genomics

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

Deep learning enables genetic analysis of the human thoracic aorta.

Nature genetics

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

Author Correction: Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature genetics

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

Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis.

The Journal of experimental medicine

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

Association of Diet Quality With Prevalence of Clonal Hematopoiesis and Adverse Cardiovascular Events.

JAMA cardiology

Bhattacharya R, Zekavat SM, Uddin MM, Pirruccello J, Niroula A, Gibson C, Griffin GK, Libby P, Ebert BL, Bick A, Natarajan P

Deep Learning to Predict Cardiac Magnetic Resonance-Derived Left Ventricular Mass and Hypertrophy From 12-Lead ECGs.

Circulation. Cardiovascular imaging

Khurshid S, Friedman S, Pirruccello JP, Di Achille P, Diamant N, Anderson CD, Ellinor PT, Batra P, Ho JE, Philippakis AA, Lubitz SA

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection.

Nature medicine

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

Cardiovascular and Kidney Outcomes Across the Glycemic Spectrum: Insights From the UK Biobank.

Journal of the American College of Cardiology

Honigberg MC, Zekavat SM, Pirruccello JP, Natarajan P, Vaduganathan M

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.

Nature communications

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

Deep learning to estimate cardiac magnetic resonance-derived left ventricular mass.

Cardiovascular digital health journal

Khurshid S, Friedman SF, Pirruccello JP, Di Achille P, Diamant N, Anderson CD, Ellinor PT, Batra P, Ho JE, Philippakis AA, Lubitz SA

Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature genetics

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

Elevated Blood Pressure Increases Pneumonia Risk: Epidemiological Association and Mendelian Randomization in the UK Biobank.

Med (New York, N.Y.)

Zekavat SM, Honigberg M, Pirruccello JP, Kohli P, Karlson EW, Newton-Cheh C, Zhao H, Natarajan P

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.

Research square

Natarajan P, Zekavat S, Lin SH, Bick A, Liu A, Paruchuri K, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Pirruccello J, Pampana A, Loh PR, Kohli P, McCarroll S, Neale B, Engels E, Brown D, Smoller J, Green R, Karlson E, Lebo M, Ellinor P, Weiss S, Daly M, Terao C, Zhao H, Ebert B, Machiela M, Genovese G

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.

medRxiv : the preprint server for health sciences

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

Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women.

Circulation

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

Lp(a) (Lipoprotein[a]) Concentrations and Incident Atherosclerotic Cardiovascular Disease: New Insights From a Large National Biobank.

Arteriosclerosis, thrombosis, and vascular biology

Patel AP, Wang (???) M, Pirruccello JP, Ellinor PT, Ng K, Kathiresan S, Khera AV

Menopausal age and left ventricular remodeling by cardiac magnetic resonance imaging among 14,550 women.

American heart journal

Honigberg MC, Pirruccello JP, Aragam K, Sarma AA, Scott NS, Wood MJ, Natarajan P

How Will Machine Learning Inform the Clinical Care of Atrial Fibrillation?

Circulation research

Siontis KC, Yao X, Pirruccello JP, Philippakis AA, Noseworthy PA

Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.

Nature communications

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

Titin Truncating Variants in Adults Without Known Congestive Heart Failure.

Journal of the American College of Cardiology

Pirruccello JP, Bick A, Chaffin M, Aragam KG, Choi SH, Lubitz SA, Ho CY, Ng K, Philippakis A, Ellinor PT, Kathiresan S, Khera AV

Genetic Interleukin 6 Signaling Deficiency Attenuates Cardiovascular Risk in Clonal Hematopoiesis.

Circulation

Bick AG, Pirruccello JP, Griffin GK, Gupta N, Gabriel S, Saleheen D, Libby P, Kathiresan S, Natarajan P

Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank.

Circulation research

Choi SH, Jurgens SJ, Weng LC, Pirruccello JP, Roselli C, Chaffin M, Lee CJ, Hall AW, Khera AV, Lunetta KL, Lubitz SA, Ellinor PT

"Road Map" to Improving Enrollment in Cardiac Rehabilitation: Identifying Barriers and Evaluating Alternatives.

Journal of the American Heart Association

Pirruccello JP, Traynor K, Aragam KG

Role of angiopoietin-like 3 (ANGPTL3) in regulating plasma level of low-density lipoprotein cholesterol.

Atherosclerosis

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

An electronic cardiac rehabilitation referral system increases cardiac rehabilitation referrals.

Coronary artery disease

Pirruccello JP, Traynor KC, Natarajan P, Brown C, Hidrue MK, Rosenfield KA, Kathiresan S, Wasfy JH

Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution.

Atherosclerosis

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

A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia.

Arteriosclerosis, thrombosis, and vascular biology

Cefalù AB, Pirruccello JP, Noto D, Gabriel S, Valenti V, Gupta N, Spina R, Tarugi P, Kathiresan S, Averna MR

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.

Lancet (London, England)

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

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 genetics

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, Han X, Hartikainen AL, Hayward C, Heath SC, Hercberg S, Hillman DR, Hingorani AD, Hui J, Hung J, Kaakinen M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur C, Li Y, Mahley R, Mangino M, Martínez-Larrad MT, McAteer JB, McPherson R, et al

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.

European heart journal

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

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.

The New England journal of medicine

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

Biological, clinical and population relevance of 95 loci for blood lipids.

Nature

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

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.

Nature

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

Genetics of lipid disorders.

Current opinion in cardiology

Pirruccello J, Kathiresan S

Candidate gene association resource (CARe): design, methods, and proof of concept.

Circulation. Cardiovascular genetics

Musunuru K, Lettre G, Young T, Farlow DN, Pirruccello JP, Ejebe KG, Keating BJ, Yang Q, Chen MH, Lapchyk N, Crenshaw A, Ziaugra L, Rachupka A, Benjamin EJ, Cupples LA, Fornage M, Fox ER, Heckbert SR, Hirschhorn JN, Newton-Cheh C, Nizzari MM, Paltoo DN, Papanicolaou GJ, Patel SR, Psaty BM, Rader DJ, Redline S, Rich SS, Rotter JI, Taylor HA, Tracy RP, Vasan RS, Wilson JG, Kathiresan S, Fabsitz RR, Boerwinkle E, Gabriel SB, NHLBI Candidate Gene Association Resource

Faculty Type: 
Core CVRI Faculty