Publications


The role of established East Asian obesity-related loci on pediatric leptin levels highlights a neuronal influence on body weight regulation in Chinese children and adolescents: the BCAMS study.
Oncotarget 2017 Nov 24;8(55):93593-93607. Epub 2017 Aug 24.
Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS & PUMC), Beijing, P.R. China.

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.).

MultiGeMS: detection of SNVs from multiple samples using model selection on high-throughput sequencing data.
Bioinformatics 2016 May 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.

Identification of Genetic and Environmental Factors Predicting Metabolically Healthy Obesity in Children: Data From the BCAMS Study.
J Clin Endocrinol Metab 2016 Apr 25;101(4):1816-25. Epub 2016 Feb 25.
Department of Endocrinology (L.L., J.Y., Y.W., Ming.L.), Key Laboratory of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, People's Republic of China; Department of Epidemiology (H.C., J.M.), Capital Institute of Paediatrics, Beijing 10020, People's Republic of China; Department of Endocrinology (S.G.), Chaoyang Hospital, Capital Medical University, Beijing 100043, China; and Department of Biostatistics and Epidemiology (Mingy.L.), Division of Endocrinology (S.F.A.G., Ming.L.), The Children's Hospital of Philadelphia, Perelman School of Medicine, Division of Human Genetics, (S.F.A.G.), The Children's Hospital of Philadelphia Research Institute, Department of Pediatrics (S.F.A.G.), Perelman School of Medicine, University of Pennsylvania; Philadelphia, Pennsylvania 19104.

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.
Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

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;


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.).

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.

RNA-Seq identifies novel myocardial gene expression signatures of heart failure.
Genomics 2015 Feb 17;105(2):83-9. Epub 2014 Dec 17.
Department of Biostatistics and Epidemiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States. Electronic address:

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.

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:

Secretory phospholipase A(2)-IIA and cardiovascular disease: a mendelian randomization study.
J Am Coll Cardiol 2013 Nov 31;62(21):1966-1976. Epub 2013 Jul 31.
Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, London, United Kingdom.



IL1RN coding variant is associated with lower risk of acute respiratory distress syndrome and increased plasma IL-1 receptor antagonist.
Am J Respir Crit Care Med 2013 May;187(9):950-9
Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.


Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
Am J Hum Genet 2012 Nov 11;91(5):823-38. Epub 2012 Oct 11.
Department of Cardiology, Division of Heart and Lungs, University Medical Center Utrecht, Utrecht, The Netherlands.

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.
Lancet 2012 Aug 17;380(9841):572-80. Epub 2012 May 17.
Department of Pharmacology, University of Pennsylvania, Philadelphia, PA, USA.


A genome-wide association meta-analysis identifies new childhood obesity loci.
Nat Genet 2012 May;44(5):526-31
Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.
Am J Hum Genet 2012 Mar 9;90(3):410-25. Epub 2012 Feb 9.
Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA.

Translational studies of lipoprotein-associated phospholipase A₂ in inflammation and atherosclerosis.
J Am Coll Cardiol 2012 Feb;59(8):764-72
Cardiovascular Institute, Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6160, USA.


Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol.
PLoS Genet 2011 Dec 8;7(12):e1002393. Epub 2011 Dec 8.
Institute for Translational Medicine and Therapeutics, Institute for Diabetes, Obesity, and Metabolism, and Cardiovascular Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America.



A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
Circ Cardiovasc Genet 2011 Aug 23;4(4):403-12. Epub 2011 May 23.
Department of Medicine II, University Medical Center Mainz, Germany.



Novel variants in the PRDX6 Gene and the risk of Acute Lung Injury following major trauma.
BMC Med Genet 2011 May 31;12:77. Epub 2011 May 31.
Division of Pulmonary and Critical Care Medicine, Department of Medicine, University of Pennsylvania School of Medicine, 3600 Spruce Street, Philadelphia, USA.


The novel atherosclerosis locus at 10q11 regulates plasma CXCL12 levels.
Eur Heart J 2011 Apr 17;32(8):963-71. Epub 2011 Mar 17.
Penn Cardiovascular Institute, University of Pennsylvania School of Medicine, Penn Tower, 6th Floor, 3400 Civic Center Blvd, Philadelphia, PA 19104, USA.


Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
Nat Genet 2011 Mar 6;43(4):333-8. Epub 2011 Mar 6.
Universität zu Lübeck, Medizinische Klinik II, Lübeck, Germany.



Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
Am J Hum Genet 2011 Jan 30;88(1):6-18. Epub 2010 Dec 30.
Department of Medicine and Biochemistry, University of Western Ontario, London, Ontario, N6A 5C1, Canada.



Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
Diabetes 2010 Dec 21;59(12):3229-39. Epub 2010 Sep 21.
Human Genetics, Wellcome Trust Sanger Institute, Hinxton, U.K.

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies.
J Am Coll Cardiol 2010 Nov;56(19):1552-63
Department of Medicine, Stanford University School of Medicine, Stanford, California 94304-1334, USA.



Biological, clinical and population relevance of 95 loci for blood lipids.
Nature 2010 Aug;466(7307):707-13
Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.

Risk Factors and Outcomes for Vancomycin-Resistant Enterococcus Bloodstream Infection in Children.
Infect Control Hosp Epidemiol 2010 Aug 31. Epub 2010 Aug 31.
From the Division of Infectious Diseases (E.J.H., T.E.Z., P.P., S.E.C.) and the Center for Clinical Effectiveness (T.E.Z., S.E.C.), the Children's Hospital of Philadelphia, and the Department of Pediatrics (T.E.Z., S.E.C.), the Center for Clinical Epidemiology and Biostatistics (T.E.Z., S.E.C.), and the Department of Biostatistics (M.L.), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania. (Present affiliation: Division of Maternal and Child Health, Ministry of Health, Southern District, Beersheva, Israel [E.J.H].).


Meta-analysis and imputation refines the association of 15q25 with smoking quantity.
Nat Genet 2010 May 25;42(5):436-40. Epub 2010 Apr 25.
Department of Statistics, University of Oxford, Oxford, UK.

Common variants in HSPB7 and FRMD4B associated with advanced heart failure.
Circ Cardiovasc Genet 2010 Apr 2;3(2):147-54. Epub 2010 Feb 2.
Penn Cardiovascular Institute, University of Pennsylvania School of Medicine, Philadelphia, USA.



Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
PLoS Genet 2012 29;8(3):e1002607. Epub 2012 Mar 29.
Department of Epidemiology, Biostatistics, and Occupational Health, Jewish General Hospital, Lady Davis Institute, McGill University, Montreal, Canada.

Vitamin D modifies the associations between circulating betatrophin and cardiometabolic risk factors among youths at risk for metabolic syndrome.
Cardiovasc Diabetol 2016 10 6;15(1):142. Epub 2016 Oct 6.
Key Laboratory of Endocrinology, Department of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.

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.

Sleep Duration and Cardiometabolic Risk Among Chinese School-aged Children: Do Adipokines Play a Mediating Role?
Sleep 2017 05;40(5)
Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China.

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