Publications

Risk factors for progression of coronary artery calcification in patients with chronic kidney disease: The CRIC study.
Atherosclerosis 2018 Feb 10;271:53-60. Epub 2018 Feb 10.
Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA. Electronic address:

CRISPR/Cas9-Mediated Gene Editing in Human iPSC-Derived Macrophage Reveals Lysosomal Acid Lipase Function in Human Macrophages-Brief Report.
Arterioscler Thromb Vasc Biol 2017 Nov 7;37(11):2156-2160. Epub 2017 Sep 7.
From the Division of Cardiology, Department of Medicine, Columbia University Medical Center, New York (H.Z., J.S., M.A.H., C.X., R.C.B., M.P.R.); Irving Institute for Clinical and Translational Research, Columbia University, New York (H.J., M.P.R.); Cardiovascular Institute, Perelman School of Medicine (W.L.), Division of Translational Medicine and Human Genetics, Departments of Genetics and Medicine, Perelman School of Medicine (J.T., J.B., M.C.P., D.J.R.), and Metabolic Tracer Resource, Institute for Diabetes, Obesity and Metabolism, Department of Medicine (J.M.), University of Pennsylvania, Philadelphia; and Department of Pathology and Immunology, Washington University in St. Louis, MO (B.R.).


Lipoprotein(a) and Risk of Myocardial Infarction and Death in Chronic Kidney Disease: Findings From the CRIC Study (Chronic Renal Insufficiency Cohort).
Arterioscler Thromb Vasc Biol 2017 Oct 24;37(10):1971-1978. Epub 2017 Aug 24.
From the Division of General Internal Medicine, Department of Medicine (A.B.), Division of Vascular Surgery (S.M.D.), Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics (A.H.A., D.X., D.S., J.C.), Department of Genetics (D.S., D.J.R.), Department of Medicine (D.J.R.), Department of Pediatrics (D.J.R.), The Penn Cardiovascular Institute (D.J.R.), and Institute for Translational Medicine and Therapeutics (D.J.R.), University of Pennsylvania, Philadelphia; Corporal Michael J. Crescenz Veterans Affairs Medical Center, Philadelphia, PA (S.M.D.); Department of Medicine, Los Angeles Biomedical Research Institute at Harbor, University of California-Los Angles (M.J.B.); Division of Research, Kaiser Permanente Northern California, Oakland, CA (A.S.G.); Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA (J.H.); Division of Nephrology, Department of Medicine, University of Illinois at Chicago (J.P.L.); Department of Medicine, University of Michigan, Ann Arbor (A.O.); Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD (W.S.P.); Division of Cardiology, Department of Medicine, Johns Hopkins School of Medicine, Baltimore, MD (W.S.P.); Division of Nephrology and Hypertension, Case Western Reserve University, University Hospitals Case Medical Center, Cleveland, OH (M.R.); Division of Cardiology, Department of Medicine, (M.P.R.) and Irving Institute for Clinical and Translational Research (M.P.R.), Columbia University, New York, NY; and Division of Kidney, Urologic, and Hematologic Diseases, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (R.R.T.).

Synergistic Modulation of Inflammatory but not Metabolic Effects of High-Fat Feeding by CCR2 and CX3CR1.
Obesity (Silver Spring) 2017 Aug 26;25(8):1410-1420. Epub 2017 Jun 26.
Division of Cardiology, Department of Medicine, Columbia University Medical Center, New York, New York, USA.

Coronary Artery Calcification and Risk of Cardiovascular Disease and Death Among Patients With Chronic Kidney Disease.
JAMA Cardiol 2017 Jun;2(6):635-643
Department of Medicine, School of Medicine, Tulane University, New Orleans, Louisiana2Department of Epidemiology, School of Public Health and Tropical Medicine, Tulane University, New Orleans, Louisiana.

Loss of Cardioprotective Effects at theLocus as a Result of Gene-Smoking Interactions.
Circulation 2017 Jun 1;135(24):2336-2353. Epub 2017 May 1.
From Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia (D.S., W.Z.); Center for Non-Communicable Diseases, Karachi, Pakistan (D.S., A.R., P.M.F., PROMIS); Department of Public Health and Primary Care, University of Cambridge, United Kingdom (R.Y., W.K.H., EPIC-CVD); Department of Cardiovascular Sciences, University of Leicester, United Kingdom (C.P.N., N.J.S.); Cardiology Division, Department of Medicine, Vanderbilt University, Nashville, TN (J.F.F., K.O.); Division of Cardiovascular Medicine, Radcliffe Department of Medicine & Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom (A.G., M.F.); The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY (R.D.); Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY (R.D.); Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Canada (A.F.R.S., R.M.); Institute for Genetic Medicine and Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles (J.H., H.A.); Department of Epidemiology and Biostatistics, Imperial College London, United Kingdom (W.Z., J.C.C., J.K.); Department of Cardiology, Ealing Hospital NHS Trust, Middlesex, United Kingdom (W.Z., J.C.C.); Cardiovascular Medicine Unit, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden (R.J.S.); Helsinki University Central Hospital HUCH Heart and Lung Center, Helsinki, Uusimaa, Finland (J.S.); Cardiology Division, Department of Medicine and the Irving Institute for Clinical and Translational Research, Columbia University Medical Center, New York, NY (R.C.B., M.P.R.); William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, United Kingdom (S.K., E.M., P.D.); Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands (S.S., A.D.); Department of Dietetics-Nutrition, Harokopio University, Athens, Greece (E.M., G.D.); National Institute for Health and Welfare, Helsinki, Finland (K.K., A.J., V.S., K.K., M.P.); MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, United Kingdom (J.H.Z., R.S.); INSERM, UMRS1138, Centre de Recherche des Cordeliers, Paris, France (D.G., N.W.); Division of Cardiology, Department of Medicine, Duke University Medical Center, Durham, NC (S.H.S.); Icelandic Heart Association, Kopavogur, Iceland (A.V.S., V.G.); Medical Research Institute, Ninewells Hospital and Medical School, University of Dundee, United Kingdom (N.v.Z., C.N.A.P.); Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC (A.J.C., D.W.B.); Institut für Integrative und Experimentelle Genomik, Universität zu Lübeck, Germany (C.W., J.E.); DZHK (German Research Center for Cardiovascular Research) partner site Hamburg-Lübeck-Kiel, Germany (C.W., J.E.); Deutsches Herzzentrum München, Technische Universität München, Germany (T.K., L.Z., H.S.); Klinikum rechts der Isar, München, Germany (T.K.); DZHK (German Centre for Cardiovascular Research), Partner Site Munich Heart Alliance, Germany (L.Z., H.S.); Department of Genetics, Washington University School of Medicine, St. Louis, MO (M.A.P., M.F.F.); Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston (A.G.); Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA (A.G.); Department of Medical Sciences, Cardiovascular Epidemiology, Uppsala University, Sweden (L.L.); Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden (N.L.P.); Department of Biostatistics Boston University School of Public Health Framingham Heart Study, MA (C.C.W.); Faculty of Medicine, University of Iceland, Reykjavik (A.V.S., V.G.); University of Helsinki, Institute for Molecular Medicine, Finland (FIMM) (A.J., M.P.); Department of Medicine, Mannheim Medical Faculty, Heidelberg University, Germany (M.E.K.); Leeds Institute of Genetics, Health and Therapeutics, University of Leeds, Leeds, United Kingdom (A.S.H.); Synlab Academy, Synlab Services GmbH, Mannheim, Germany and Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Austria (W.M.); National Heart, Lung, and Blood Institute and the Framingham Heart Study, National Institutes of Health, Bethesda, MD (C.O'D.); Department of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, Sweden (E.I.); Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, CA (E.I.); Division of Cardiovascular Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden (U.D.F.); Lebanese American University, School of Medicine, Beirut (P.Z.); Department of Health Sciences, University of Leicester, United Kingdom (J.R.T.); Imperial College Healthcare NHS Trust, London, United Kingdom (J.C.C., J.K.); Cardiovascular Science, National Heart and Lung Institute, Imperial College London, United Kingdom (J.K.); Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah, Saudi Arabia (P.D.); deCODE Genetics, Sturlugata 8, IS-101 Reykjavik, Iceland (G.T., K.S.); University of Iceland, School of Medicine, Reykjavik, Iceland (G.T., K.S.); Broad Institute of the Massachusetts Institute of Technology and Harvard University, Cambridge (S.K.); Cardiovascular Research Center, Massachusetts General Hospital, Boston (S.K.); Center for Human Genetic Research, Massachusetts General Hospital, Boston (S.K.); Department of Medicine, Harvard Medical School, Boston, MA (S.K.); Department of Genetics, University of Pennsylvania, Philadelphia (D.J.R.); and Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (S.T.N., D.J.R.).

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.
J Am Coll Cardiol 2017 Feb;69(7):823-836
Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts; Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts; Department of Medicine, Harvard Medical School, Boston, Massachusetts; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts; Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts.

GlycA Is a Novel Biomarker of Inflammation and Subclinical Cardiovascular Disease in Psoriasis.
Circ Res 2016 Nov 21;119(11):1242-1253. Epub 2016 Sep 21.
From the Cardiovascular and Pulmonary Branch (A.A.J., J.B.L., T.M.A., H.L.T., J.A.R., Q.N., T.Z.A., T.S., B.N., M.Y.C., A.T.R., D.A.B., M.P.P., N.N.M.), Section of Inflammation and Cardiometabolic Diseases (A.A.J., J.B.L., T.M.A., H.L.T., J.A.R., Q.N., T.Z.A., T.S., B.N., A.T.R., M.P.P., N.N.M.), National Heart, Lung, and Blood Institute, Bethesda, MD; Department of Internal Medicine, Allegheny General Hospital, Pittsburgh, PA (A.A.J.); Department of Medicine, McGill University, Montreal, QC, Canada (M.A.); Department of Cardiology, Einstein Institute for Heart and Vascular Health, Albert Einstein Medical Center, Philadelphia, PA (P.K.); Department of Internal Medicine, University of Colorado, Denver (T.S.); Department of Internal Medicine, University of Arizona College of Medicine at South Campus, Tucson (B.N.); Derm Associates, Silver Spring, MD (B.N.L.); Department of Radiology and Imaging Sciences, National Institutes of Health Clinical Research Center, Bethesda, MD (M.A.A.); Perelman School of Medicine (D.J.R.), Department of Dermatology (J.M.G.), and The Center for Clinical Epidemiology and Biostatistics (J.M.G.), University of Pennsylvania, Philadelphia; and Division of Cardiology, Department of Medicine, Irving Institute for Clinical and Translational Research, Columbia University, New York (M.P.R.).

No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis.
Sci Rep 2016 Oct 12;6:35278. Epub 2016 Oct 12.
Institut für Medizinische Biometrie und Statistik, Universität zu Lübeck, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.

Transcriptome-Wide Analysis Reveals Modulation of Human Macrophage Inflammatory Phenotype Through Alternative Splicing.
Arterioscler Thromb Vasc Biol 2016 Jul 26;36(7):1434-47. Epub 2016 May 26.
From the Renal, Electrolyte, and Hypertension Division, Department of Medicine, Perelman School of Medicine (J.L.), Department of Biostatistics and Epidemiology (Y.H., M.L.), Department of Genetics, Perelman School of Medicine (B.C., K.M., D.J.R.), and Cardiovascular Institute, Department of Medicine, Perelman School of Medicine (M.G., W.L., K.M.), University of Pennsylvania, Philadelphia; Irving Institute for Clinical and Translational Research (M.P.R.) and Division of Cardiology, Department of Medicine (C.X., H.Z., M.P.R.), Columbia University Medical Center, New York, NY; and Department of Mathematics and Statistics, Mount Holyoke College, South Hadley, MA (S.N., A.S.F.).

Common and Rare Genetic Variation in CCR2, CCR5, or CX3CR1 and Risk of Atherosclerotic Coronary Heart Disease and Glucometabolic Traits.
Circ Cardiovasc Genet 2016 Jun 24;9(3):250-8. Epub 2016 Mar 24.
From the Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia (J.R.G.); Cardiovascular Division, Department of Medicine (N.O.S.), Department of Genetics and McDonnell Genome Institute (N.O.S.), Washington University School of Medicine, St. Louis, MO; Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia (W.Z., C.X., D.S.); Department of Cardiovascular Medicine, The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom (M.F., H.W.); Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, Canada (R.M.); Medizinische Klinik II, University of Lübeck, Lübeck, Germany (J.E.); William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University London, London, United Kingdom (P.D.); Deutsches Herzzentrum München, Technische Universität München, DZHK, Munich Heart Alliance, München, Germany (H.S.); Department of Cardiovascular Sciences, University of Leicester & NIHR Leicester Cardiovascular Biomedical Research Unit, Glenfield Hospital, Leicester, United Kingdom (N.J.S.); Center for Human Genetic Research, Cardiovascular Research Center, Massachusetts General Hospital, Boston (S.K.); Department of Medicine, Harvard Medical School, Boston, MA (S.K.); Program in Medical and Population Genetics, Broad Institute, Cambridge, MA (S.K.); and Department of Medicine, Columbia University, New York, NY (M.P.R.).

Labeling monocytes with gold nanoparticles to track their recruitment in atherosclerosis with computed tomography.
Biomaterials 2016 May 9;87:93-103. Epub 2016 Feb 9.
Department of Radiology, University of Pennsylvania, 3400 Spruce St, 1 Silverstein, Philadelphia, PA 19104, USA; Department of Bioengineering, University of Pennsylvania, 3400 Spruce St, 1 Silverstein, Philadelphia, PA 19104, USA; Department of Medicine, Division of Cardiovascular Medicine, University of Pennsylvania, 3400 Spruce St, 1 Silverstein, Philadelphia, PA 19104, USA. Electronic address:

High-Density Lipoprotein Proteomic Composition, and not Efflux Capacity, Reflects Differential Modulation of Reverse Cholesterol Transport by Saturated and Monounsaturated Fat Diets.
Circulation 2016 May 14;133(19):1838-50. Epub 2016 Apr 14.
From Nutrigenomics Research Group (M.O., E.D., W.G., O.F., A. McMorrow, A. Murphy, C.L., D.J., H.M.R., F.C.M.), UCD Institute of Food and Health (M.R., M.G., E.G., L.B., H.M.R., F.C.M.), Diabetes Complications Research Centre (F.C.M.), UCD Conway Institute and School of Medicine, University College Dublin, Ireland; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, PA (M.d.l.L.M.); and Cardiovascular Institute (M.P.R.) and Institute for Translational Medicine and Therapeutics (M.P.R.), University of Pennsylvania School of Medicine, Philadelphia.

Genetic association of long-chain acyl-CoA synthetase 1 variants with fasting glucose, diabetes, and subclinical atherosclerosis.
J Lipid Res 2016 Mar 28;57(3):433-42. Epub 2015 Dec 28.
Department of Medicine UW Diabetes Institute, University of Washington, Seattle, WA Center for Non-Communicable Diseases, Karachi, Pakistan


From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease.
Circ Res 2016 Feb;118(4):586-606
From the Division of Translational Medicine and Human Genetics, Department of Medicine (S.T.N., R.C.B., D.J.R.), Penn Cardiovascular Institute, Department of Medicine (H.Z., M.P.R., D.J.R.), Department of Genetics (N.J.H., D.J.R.), and Department of Biostatistics and Epidemiology (D.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.

The long noncoding RNA landscape in hypoxic and inflammatory renal epithelial injury.
Am J Physiol Renal Physiol 2015 Dec 23;309(11):F901-13. Epub 2015 Sep 23.
Cardiovascular Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania;

The ABO Histo-Blood Group and AKI in Critically Ill Patients with Trauma or Sepsis.
Clin J Am Soc Nephrol 2015 Nov 4;10(11):1911-20. Epub 2015 Sep 4.
Divisions of Pulmonary, Allergy, and Critical Care and Center for Clinical Epidemiology and Biostatistics, and.

A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
Nat Genet 2015 Oct 7;47(10):1121-1130. Epub 2015 Sep 7.
Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.


Plasma apolipoprotein C-III levels, triglycerides, and coronary artery calcification in type 2 diabetics.
Arterioscler Thromb Vasc Biol 2015 Aug 11;35(8):1880-8. Epub 2015 Jun 11.
From the Department of Medicine, Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia (A.Q., S.A.K., D.J.R., M.P.R.); Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston (A.V.K.); and Division of Cardiology, Department of Medicine, University of California at San Francisco (A.Q.).


Ascending and descending thoracic aorta calcification in type 2 diabetes mellitus.
J Cardiovasc Comput Tomogr 2015 Sep-Oct;9(5):373-81. Epub 2015 May 16.
Division of Cardiology, University of California, San Francisco, 505 Parnassus Avenue, San Francisco, CA 94143, USA. Electronic address:



ABO Blood Group as a Model for Platelet Glycan Modification in Arterial Thrombosis.
Arterioscler Thromb Vasc Biol 2015 Jul 4;35(7):1570-8. Epub 2015 Jun 4.
From the Cardiology Division, Department of Medicine, Cardiovascular Institute (M.Z., H.Z., M.P.R.) and Pulmonology, Allergy, and Critical Care Division, Department of Medicine (J.P.R., J.D.C.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; and Complex Carbohydrate Research Center, University of Georgia, Athens (M.I., T.K., P.A.).

Functional analysis and transcriptomic profiling of iPSC-derived macrophages and their application in modeling Mendelian disease.
Circ Res 2015 Jun 22;117(1):17-28. Epub 2015 Apr 22.
From the Cardiovascular Institute (H.Z., C.X., R.S., K.B., C.C.H., W.L., A.R., J.T.-M., E.E.P., E.E.M., D.J.R., M.P.R.), and Department of Biostatistics and Epidemiology (M.L.), Perelman School of Medicine, Institute for Translational Medicine and Therapeutics, Institute for Diabetes, Obesity, and Metabolism (A.R., M.C., E.E.P., D.J.R.), Department of Medicine, Metabolic Tracer Resource, Institute for Diabetes, Obesity, and Metabolism (J.S.M.), Institute for Regenerative Medicine (Y.L., R.Y., W.Y., E.E.M.), Department of Biology, Perelman School of Medicine and School of Arts and Science (S.J.G., B.D.G.), PENN Genome Frontiers Institute (S.J.G., B.D.G.), Department of Pediatrics, Perelman School of Medicine (S.T.C.), Department of Cell and Developmental Biology, Perelman School of Medicine (E.E.M.), and Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia; and Division of Hematology, The Children's Hospital of Philadelphia, PA (D.V., S.T.C.).

Circadian control of innate immunity in macrophages by miR-155 targeting Bmal1.
Proc Natl Acad Sci U S A 2015 Jun 20;112(23):7231-6. Epub 2015 May 20.
School of Biochemistry and Immunology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin 2, Ireland;


Human experimental endotoxemia in modeling the pathophysiology, genomics, and therapeutics of innate immunity in complex cardiometabolic diseases.
Arterioscler Thromb Vasc Biol 2015 Mar 30;35(3):525-34. Epub 2014 Dec 30.
From the Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (P.N.P., R.Y.S., M.P.R.); and Division of Cardiovascular Medicine, Vanderbilt University School of Medicine, Nashville, TN (J.F.F.).

Circulating brain-derived neurotrophic factor concentrations and the risk of cardiovascular disease in the community.
J Am Heart Assoc 2015 Mar 11;4(3):e001544. Epub 2015 Mar 11.
National Heart, Blood, and Lung Institute's Framingham Heart Study, Framingham, MA (B.M.K., S.R.P., A.S.B., Q.Y., S.S., R.S.V.) Sections of Preventive Medicine and Epidemiology and Cardiology, Boston University School of Medicine, Boston, MA (R.S.V.).

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Nature 2015 Feb 10;518(7537):102-6. Epub 2014 Dec 10.
1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [2] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [3] Department of Medicine, Harvard Medical School, Boston, Massachusetts 02114, USA. [4] Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.

Effects of niacin, statin, and fenofibrate on circulating proprotein convertase subtilisin/kexin type 9 levels in patients with dyslipidemia.
Am J Cardiol 2015 Jan 31;115(2):178-82. Epub 2014 Oct 31.
Department of Medicine, Smilow Center for Translational Research, Perelman School of Medicine, Philadelphia, Pennsylvania; Cardiovascular Institute, Smilow Center for Translational Research, Perelman School of Medicine, Philadelphia, Pennsylvania.


Computed tomography-defined abdominal adiposity is associated with acute kidney injury in critically ill trauma patients*.
Crit Care Med 2014 Jul;42(7):1619-28
1Pulmonary, Allergy, and Critical Care Division, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. 2Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. 3Division of Traumatology, Surgical Critical Care, and Emergency Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. 4Drexel University School of Public Health, Philadelphia, PA. 5Renal, Electrolyte, and Hypertension Division, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. 6Cardiovascular Medicine Division, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. 7Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. 8Center for Translational Lung Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.


Distribution and medical impact of loss-of-function variants in the Finnish founder population.
PLoS Genet 2014 Jul 31;10(7):e1004494. Epub 2014 Jul 31.
Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, United States of America.

Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.
Arterioscler Thromb Vasc Biol 2014 May 27;34(5):1093-101. Epub 2014 Feb 27.
From National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA (J.H., A.D.J., C.J.O.); Division of Intramural Research, National Heart, Lung, and Blood Institute, Bethesda, MD (J.H., A.D.J., C.J.O.); MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, Scotland, United Kingdom (J.E.H., V.V., A.F.W., C.H.); The Aab Cardiovascular Research Institute, Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY (M.Y., C.J.L.); Departments of Cardiology (S.T., J.W.J.), Gerontology and Geriatrics (S.T., A.J.M.d.C., R.G.J.W.), and Molecular Epidemiology (P.E.S.), Leiden University Medical Center, the Netherlands; Department of Cardiology, Division of Heart and Lungs, University Medical Center Utrecht, Utrecht, the Netherlands (F.W.A.); Durrer Center for Cardiogenetic Research, ICIN-Netherlands Heart Institute, Utrecht, the Netherlands (F.W.A.); Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, United Kingdom (F.W.A.); Cardiovascular Genetics and Genomics Group, Atherosclerosis Research Unit, Department of Medicine (M.S.-L., L.F., P.E., A.H.), Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden; INSERM UMRS 937, Pierre et Marie Curie University, Paris, France (D.-A.T., V.T., T.O.M., F.C.); ICAN Institute for Cardiometabolism and Nutrion, Paris, France (D.-A.T., V.T., F.C.); Departments of Public Health Sciences (W.M.C., B.B.W., F.C.) and Biochemistry and Molecular Genetics (M.M.S.), Center for Public Health Genomics, University of Virginia, Charlottesville, VA; Departments of Epidemiology (N.L.S., B.M.P., B.M.), Medicine (B.M.P., J.C.B.), and Health Services (B.M.P.), University of Washington, Seattle, WA; Group Health Research Institute, Group Health Cooperative, Seattle, WA (N.L.S., B.M.P.); Seattle Epidemiologic Research and Information Center, VA Office of Research and

Differential association of plasma angiopoietin-like proteins 3 and 4 with lipid and metabolic traits.
Arterioscler Thromb Vasc Biol 2014 May 13;34(5):1057-63. Epub 2014 Mar 13.
From the Department of Medicine and Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (N.M., A.Q., L.Q., M.P.R., D.J.R.); Department of Medicine, University of California at San Francisco (A.N.Q.); and National Heart, Lung, and Blood Institute, Bethesda, MD (N.N.M.).

Insulin sensitivity index in type 1 diabetes and following human islet transplantation: comparison of the minimal model to euglycemic clamp measures.
Am J Physiol Endocrinol Metab 2014 May 1;306(10):E1217-24. Epub 2014 Apr 1.
Division of Transplantation, Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

ABO blood type A is associated with increased risk of ARDS in whites following both major trauma and severe sepsis.
Chest 2014 Apr;145(4):753-761
Division of Pulmonary, Allergy, and Critical Care, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Tissue-specific RNA-Seq in human evoked inflammation identifies blood and adipose LincRNA signatures of cardiometabolic diseases.
Arterioscler Thromb Vasc Biol 2014 Apr 6;34(4):902-12. Epub 2014 Feb 6.
From the Departments of Biostatistics and Epidemiology and Biology, Cardiovascular Institute, Perelman School of Medicine and School of Arts and Science at the University of Pennsylvania, Philadelphia.


Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.
Am J Hum Genet 2014 Mar 20;94(3):349-60. Epub 2014 Feb 20.
Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

PennSeq: accurate isoform-specific gene expression quantification in RNA-Seq by modeling non-uniform read distribution.
Nucleic Acids Res 2014 Feb 20;42(3):e20. Epub 2013 Dec 20.
Department of Biostatistics and Epidemiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA and Cardiovascular Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.
Am J Hum Genet 2014 Feb;94(2):223-32
Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA; National Heart, Lung, and Blood Institute (NHLBI) Framingham Heart Study, Framingham, MA 01702, USA. Electronic address:

Importance of evaluating cell cholesterol influx with efflux in determining the impact of human serum on cholesterol metabolism and atherosclerosis.
Arterioscler Thromb Vasc Biol 2014 Jan 7;34(1):17-25. Epub 2013 Nov 7.
From the Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, PA (G.L.W., D.D.-S., D.K.S., G.H.R., M.d.l.L.-M.); Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia (M.P.R.); and School of Public Health and School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa (A.N.W.).

Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Stroke 2014 Jan 21;45(1):24-36. Epub 2013 Nov 21.
From the Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians-Universität, Munich, Germany (M.D., R. Malik); Munich Cluster for Systems Neurology (SyNergy), Munich, Germany (M.D.); Institut für Medizinische Biometrie und Statistik (I.R.K.), and Institut für integrative und experimentelle Genomik (J.E.), Universität zu Lübeck, Lübeck, Germany; Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Germany (I.R.K.); Department of Neurology and Center for Human Genetic Research (J.R.), and Cardiology Division (C.J.O.D.), Massachusetts General Hospital, Boston; Harvard Medical School, Boston, MA (J.R.); Program in Medical and Population Genetics (J.R.), and Program in Medical and Population Genetics (S.K.), Broad Institute of Harvard and MIT, Cambridge, MA; Clinical Trial Service Unit and Epidemiological Studies Unit (R.C., J.C.H.), Wellcome Trust Centre for Human Genetics (H.W., M. Farrall), Department of Cardiovascular Medicine (M. Farrall), and Stroke Prevention Research Unit, Nuffield Department of Clinical Neuroscience (P.M.R.), John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom; deCODE Genetics, Reykjavik, Iceland (S.G., G.T., U.T., K.S.); Department of Medicine, University of Maryland School of Medicine, Baltimore (B.D.M.); Department of Medicine, Stanford University School of Medicine, Stanford, CA (T.L.A.); Center for Translational Neuroscience and Mental Health Research, University of Newcastle, New South Wales, Australia (C.L.); Hunter Medical Research Institute, New South Wales, Australia (C.L.); National Heart, Lung and Blood Institute and NHLBI's Framingham Heart Study, MA (C.J.O.D., S.S.); University of Texas Health Science Center at Houston (M. Fornage); Cardiovascular Health Research Unit, Department of Epidemiology (B.M.P.), Department of Medicine (B.M.P.), Department of Health Services (B.M.P.), and Cardiovascular Health Research Unit, Department of Medicine (J.C.B.), University

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.
Arterioscler Thromb Vasc Biol 2013 Dec 26;33(12):2909-14. Epub 2013 Sep 26.
From the Cardiovascular Division, Department of Medicine (N.O.S.) and Division of Statistical Genomics (N.O.S.), Washington University School of Medicine, Saint Louis, MO; Department of Vascular Medicine (B.S., S.S., J.J.P.K., G.K.H.) Department of Experimental Vascular Medicine (S.W.F., J.C.D), and Radiology (A.J.N.), Academic Medical Center, Amsterdam, The Netherlands; Center for Human Genetic Research, Boston, MA (G.M.P., A.M.M., D.A., S.K.); Program in Medical and Population Genetics, Broad Institute, Cambridge, MA (G.M.P., A.M.M., D.A., S.K.); Fred Hutchinson Cancer Research Center, Seattle, WA (P.L.A., C.K.); Wellcome Trust Centre for Human Genetics (A.G., M.F., H.W.) and Cardiovascular Medicine, Radcliffe Department of Medicine (A.G., M.F., H.W.), University of Oxford, Oxford, United Kingdom; Division of Cardiovascular Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden (B.G., U.d.F.); Department of Cardiovascular Sciences, University of Leicester and Leicester NIHR Biomedical Research Unit in Cardiovascular Disease, Glenfield Hospital, Leicester, United Kingdom (T.A.B., N.J.S.); Department of Clinical Sciences, Hypertension and Cardiovascular Diseases (O.M.) and Diabetes and Cardiovascular Disease Genetic Epidemiology (M.O.-M.), Skania University Hospital, Lund University, Malmö, Sweden; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy (S.D.); Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, Ontario, Canada (M.N.); Department of Medicine, University of Verona, Verona, Italy (N.M., D.G.); Division of Endocrinology, Diabetes and Metabolism, Ohio State University, Columbus (R.D.J.); Departments of Epidemiology, Genetics and Biostatistics, Bioinformatics and Computational Biology, University of North Carolina, Chapel Hill (L.A.L.); Division of Cardiology, Azienda Ospedaliero-Universitaria di Parma, Parma, Italy (D.A.); The John & Jennif

Improvement in insulin sensitivity after human islet transplantation for type 1 diabetes.
J Clin Endocrinol Metab 2013 Nov 1;98(11):E1780-5. Epub 2013 Oct 1.
MD, MS, Perelman School of Medicine at the University of Pennsylvania, 12-134 Smilow Center for Translational Research, 3400 Civic Center Boulevard, Philadelphia, Pennsylvania 19104.

Common variants associated with plasma triglycerides and risk for coronary artery disease.
Nat Genet 2013 Nov 6;45(11):1345-52. Epub 2013 Oct 6.
1] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA. [2] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA. [3] Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA. [4] Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.

Discovery and refinement of loci associated with lipid levels.
Nat Genet 2013 Nov 6;45(11):1274-1283. Epub 2013 Oct 6.
Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.


Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
Circulation 2013 Sep 22;128(12):1310-24. Epub 2013 Aug 22.





Identification of seven loci affecting mean telomere length and their association with disease.
Nat Genet 2013 Apr;45(4):422-7, 427e1-2
Department of Cardiovascular Sciences, University of Leicester, Leicester, UK.

Race and gender variation in response to evoked inflammation.
J Transl Med 2013 Mar 12;11:63. Epub 2013 Mar 12.
Cardiovascular Institute, Perelman School of Medicine, at the University of Pennsylvania, 11-136 Smilow Center for Translational Research, Building 421, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA.




MultiGeMS: detection of SNVs from multiple samples using model selection on high-throughput sequencing data.
Bioinformatics 2016 05 18;32(10):1486-92. Epub 2016 Jan 18.
Department of Statistics, University of California, Riverside, CA 92521, USA, Center for Plant Cell Biology, Institute for Integrative Genome Biology, University of California, Riverside, CA 92521, USA.


Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.
N Engl J Med 2016 03 2;374(12):1134-44. Epub 2016 Mar 2.

Expression of Calgranulin Genes S100A8, S100A9 and S100A12 Is Modulated by n-3 PUFA during Inflammation in Adipose Tissue and Mononuclear Cells.
PLoS One 2017 26;12(1):e0169614. Epub 2017 Jan 26.
Division of Cardiovascular Medicine, and Vanderbilt Translational and Clinical Cardiovascular Research Center (VTRACC), Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.

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