Publications by authors named "Robert C Bauer"

24Publications

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Hum Mutat 2019 12 26;40(12):2197-2220. Epub 2019 Aug 26.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

View Article and Find Full Text PDF
December 2019

Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver.

Am J Hum Genet 2019 07 13;105(1):89-107. Epub 2019 Jun 13.

Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

View Article and Find Full Text PDF
July 2019

Trouble With Tribbles-1.

Arterioscler Thromb Vasc Biol 2019 06;39(6):998-1005

From the Cardiometabolic Genomics Program, Division of Cardiology, Department of Medicine, Columbia University Medical Center, New York.

View Article and Find Full Text PDF
June 2019

Genetics-driven discovery of novel regulators of lipid metabolism.

Curr Opin Lipidol 2019 06;30(3):157-164

Cardiometabolic Genomics Program, Division of Cardiology, Department of Medicine, Columbia University, New York, New York, USA.

View Article and Find Full Text PDF
June 2019

Emerging Roles for Adipose Tissue in Cardiovascular Disease.

Arterioscler Thromb Vasc Biol 2018 08;38(8):e137-e144

From the Division of Cardiology, Department of Medicine, Columbia University Medical Center, New York, NY.

View Article and Find Full Text PDF
August 2018

Myeloid-specific deletion of Zfp36 protects against insulin resistance and fatty liver in diet-induced obese mice.

Am J Physiol Endocrinol Metab 2018 10 6;315(4):E676-E693. Epub 2018 Mar 6.

Department of Obstetrics and Gynecology, Sidney Kimmel Medical College, Thomas Jefferson University , Philadelphia, Pennsylvania.

View Article and Find Full Text PDF
October 2018

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 11 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.).

View Article and Find Full Text PDF
November 2017

Loss of Cardioprotective Effects at the Locus 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.).

View Article and Find Full Text PDF
June 2017

Therapeutic Targets of Triglyceride Metabolism as Informed by Human Genetics.

Trends Mol Med 2016 Apr 14;22(4):328-340. Epub 2016 Mar 14.

Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104-5159, USA. Electronic address:

View Article and Find Full Text PDF
April 2016

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.

View Article and Find Full Text PDF
February 2016

Tribbles-1: a novel regulator of hepatic lipid metabolism in humans.

Biochem Soc Trans 2015 Oct;43(5):1079-84

Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.

View Article and Find Full Text PDF
October 2015

Genetic manipulation of the ApoF/Stat2 locus supports an important role for type I interferon signaling in atherosclerosis.

Atherosclerosis 2014 Mar 10;233(1):234-41. Epub 2014 Jan 10.

Division of Translational Medicine and Human Genetics, Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

View Article and Find Full Text PDF
March 2014

Sequential inhibitor therapy in CML: in vitro simulation elucidates the pattern of resistance mutations after second- and third-line treatment.

Clin Cancer Res 2013 Jun 2;19(11):2962-72. Epub 2013 Apr 2.

III. Medizinische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, München, Germany.

View Article and Find Full Text PDF
June 2013

Genetic ablation of Adamts13 gene dramatically accelerates the formation of early atherosclerosis in a murine model.

Arterioscler Thromb Vasc Biol 2012 Aug 31;32(8):1817-23. Epub 2012 May 31.

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, 34th St and Civic Center Blvd, 816G ARC, Philadelphia, PA 19104, USA.

View Article and Find Full Text PDF
August 2012

Genetic basis of atherosclerosis: insights from mice and humans.

Circ Res 2012 Jan;110(2):337-55

Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, 654 BRBII/III Labs, 421 Curie Boulevard, Philadelphia, Pennsylvania, 19104-6160, USA.

View Article and Find Full Text PDF
January 2012

NOTCH2 mutations in Alagille syndrome.

J Med Genet 2012 Feb 29;49(2):138-44. Epub 2011 Dec 29.

Division of Gastroenterology and Nutrition, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Canada.

View Article and Find Full Text PDF
February 2012

Functional validation of new pathways in lipoprotein metabolism identified by human genetics.

Curr Opin Lipidol 2011 Apr;22(2):123-8

Institute for Translational Medicine and Therapeutics and Cardiovascular Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

View Article and Find Full Text PDF
April 2011

Ligand-independent regulation of the hairless promoter by vitamin D receptor.

Photochem Photobiol 2008 Mar-Apr;84(2):515-21. Epub 2008 Feb 7.

Department of Dermatology, Columbia University, New York, NY, USA.

View Article and Find Full Text PDF
April 2008

Genomic organization of mouse desmocollin genes reveals evolutionary conservation.

DNA Seq 2004 Apr;15(2):148-52

Departments of Dermatology and Genetics & Development, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, VC-1526, New York, NY, USA.

View Article and Find Full Text PDF
April 2004