James Pirruccello, MD
Assistant Professor
Medicine
School of Medicine

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.

• Clonal hematopoiesis, cardiovascular events and treatment benefit in 63,700 individuals from five TIMI randomized trials.
  Nature medicine 2024 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 2024 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 2024 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 2024 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, …
• Genetically predicted gestational age and birth weight are associated with cardiac and pulmonary vascular remodelling in adulthood.
  European journal of preventive cardiology 2024 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 2024 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 2024 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 2024 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…
• Artificial Intelligence in Cardiovascular Care-Part 2: Applications: JACC Review Topic of the Week.
  Journal of the American College of Cardiology 2024 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…
• Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease.
  Arteriosclerosis, thrombosis, and vascular biology 2023 Raghavan A, Pirruccello JP, Ellinor PT, Lindsay ME
• Selenoprotein deficiency disorder predisposes to aortic aneurysm formation.
  Nature communications 2023 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, …
• Sex differences in ascending aortic size reporting and growth on chest computed tomography and magnetic resonance imaging.
  Clinical imaging 2023 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 2023 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 2023 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 2023 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 2023 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) 2023 Elliott A, Pirruccello JP
• Author Correction: Clonal haematopoiesis and risk of chronic liver disease.
  Nature 2023 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…
• Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program.
  Nature genetics 2023 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, …
• Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms.
  Circulation. Genomic and precision medicine 2023 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 2023 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 2023 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 2023 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 2023 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, …
• Clonal haematopoiesis and risk of chronic liver disease.
  Nature 2023 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…
• The Genetic Determinants of Aortic Distention.
  Journal of the American College of Cardiology 2023 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 2023 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 2023 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 2023 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 2023 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, …
• Machine Learning to Understand Genetic and Clinical Factors Associated With the Pulse Waveform Dicrotic Notch.
  Circulation. Genomic and precision medicine 2022 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 2022 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.) 2022 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 …
• Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
  Nature communications 2022 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…
• 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 2022 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 2022 Chou E, Pirruccello JP, Ellinor PT, Lindsay ME
• Wearable accelerometer-derived physical activity and incident disease.
  NPJ digital medicine 2022 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 2022 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…
• Spatially Distinct Genetic Determinants of Aortic Dimensions Influence Risks of Aneurysm and Stenosis.
  Journal of the American College of Cardiology 2022 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 2022 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 2022 Patel AP, Dron JS, Wang M, Pirruccello JP, Ng K, Natarajan P, Lebo M, Ellinor PT, Aragam KG, Khera AV
• Genetic Association of Body Mass Index With Pathologic Left Ventricular Remodeling.
  Journal of the American Heart Association 2022 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 2022 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 2022 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 2022 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, …
• Machine learning enables new insights into genetic contributions to liver fat accumulation.
  Cell genomics 2021 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
• Author Correction: Genetics of 35 blood and urine biomarkers in the UK Biobank.
  Nature genetics 2021 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, …
• Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis.
  The Journal of experimental medicine 2021 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 …
• Association of Diet Quality With Prevalence of Clonal Hematopoiesis and Adverse Cardiovascular Events.
  JAMA cardiology 2021 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 2021 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 2021 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-…
• Cardiovascular and Kidney Outcomes Across the Glycemic Spectrum: Insights From the UK Biobank.
  Journal of the American College of Cardiology 2021 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 2021 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…
• Deep learning to estimate cardiac magnetic resonance-derived left ventricular mass.
  Cardiovascular digital health journal 2021 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 2021 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, …
• Elevated Blood Pressure Increases Pneumonia Risk: Epidemiological Association and Mendelian Randomization in the UK Biobank.
  Med (New York, N.Y.) 2020 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 2020 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, …
• Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.
  medRxiv : the preprint server for health sciences 2020 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, …
• Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women.
  Circulation 2020 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…
• Lp(a) (Lipoprotein[a]) Concentrations and Incident Atherosclerotic Cardiovascular Disease: New Insights From a Large National Biobank.
  Arteriosclerosis, thrombosis, and vascular biology 2020 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 2020 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 2020 Siontis KC, Yao X, Pirruccello JP, Philippakis AA, Noseworthy PA
• Titin Truncating Variants in Adults Without Known Congestive Heart Failure.
  Journal of the American College of Cardiology 2020 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 2019 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 2019 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 2017 Pirruccello JP, Traynor K, Aragam KG
• Role of angiopoietin-like 3 (ANGPTL3) in regulating plasma level of low-density lipoprotein cholesterol.
  Atherosclerosis 2017 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 2017 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 2016 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 2013 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) 2012 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, …
• 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 2012 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,…
• Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.
  European heart journal 2012 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 2010 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 …
• Biological, clinical and population relevance of 95 loci for blood lipids.
  Nature 2010 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 …
• From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.
  Nature 2010 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, …
• Genetics of lipid disorders.
  Current opinion in cardiology 2010 Pirruccello J, Kathiresan S
• Candidate gene association resource (CARe): design, methods, and proof of concept.
  Circulation. Cardiovascular genetics 2010 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, …