首页> Nature genetics> ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.

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第一作者： Russell A,Gould

第一单位： McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.;Howard Hughes Medical Institute, Baltimore, MD, USA.

作者： Russell A,Gould ^[1] ; Hamza,Aziz ^[1] ; Courtney E,Woods ^[2] ; Manuel Alejandro,Seman-Senderos ^[2] ; Elizabeth,Sparks ^[2] ; Christoph,Preuss ^[3] ; Florian,Wünnemann ^[4] ; Djahida,Bedja ^[5] ; Cassandra R,Moats ^[6] ; Sarah A,McClymont ^[7] ; Rebecca,Rose ^[2] ; Nara,Sobreira ^[2] ; Hua,Ling ^[7] ; Gretchen,MacCarrick ^[2] ; Ajay Anand,Kumar ^[8] ; Ilse,Luyckx ^[8] ; Elyssa,Cannaerts ^[8] ; Aline,Verstraeten ^[8] ; Hanna M,Björk ^[9] ; Ann-Cathrin,Lehsau ^[10] ; Vinod,Jaskula-Ranga ^[11] ; Henrik,Lauridsen ^[12] ; Asad A,Shah ^[13] ; Christopher L,Bennett ^[1] ; Patrick T,Ellinor ^[14] ; Honghuang,Lin ^[15] ; Eric M,Isselbacher ^[16] ; Christian Lacks,Lino Cardenas ^[17] ; Jonathan T,Butcher ^[12] ; G Chad,Hughes ^[18] ; Mark E,Lindsay ^[19] ; Baylor-Hopkins Center for Mendelian Genomics ^[20] ; MIBAVA Leducq Consortium ^[21] ; Luc,Mertens ^[22] ; Anders,Franco-Cereceda ^[23] ; Judith M A,Verhagen ^[10] ; Marja,Wessels ^[9] ; Salah A,Mohamed ^[23] ; Per,Eriksson ^[8] ; Seema,Mital ^[24] ; Lut,Van Laer ^[25] ; Bart L,Loeys ^[26] ; Gregor,Andelfinger ^[27] ; Andrew S,McCallion ; Harry C,Dietz

作者单位： McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.;Howard Hughes Medical Institute, Baltimore, MD, USA. ^[1] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. ^[2] Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada.;The Jackson Laboratory, Bar Harbor, ME, USA. ^[3] Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada. ^[4] Department of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.;Heart and Vascular Institute, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. ^[5] Department of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.;Oregon National Primate Research Center, Portland, OR, USA. ^[6] Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA. ^[7] Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium. ^[8] Center for Molecular Medicine, Department of Medicine Solna, University Hospital Solna, Karolinska Institutet, Stockholm, Sweden. ^[9] Department of Cardiac and Thoracic Vascular Surgery, University Hospital Lübeck, Lübeck, Germany. ^[10] Wilmer Eye Institute in the Department of Ophthalmology at the Johns Hopkins University School of Medicine, Baltimore, MD, USA. ^[11] The Nancy E. and Peter C. Meinig School of Biomedical Engineering, Cornell University, Ithaca, NY, USA. ^[12] Rex Hospital, Raleigh, NC, USA. ^[13] The Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Cardiovascular Research Institute, Massachussets General Hospital, Charlestown, MA, USA. ^[14] Section of Computational Biomedicine, Department of Medicine, Boston University School of Medicine, Boston, MA, USA. ^[15] Thoracic Aortic Center, Division of Cardiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. ^[16] Cardiovascular Research Center, Division of Cardiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. ^[17] Division of Cardiovascular and Thoracic Surgery, Duke University Medical Center, Durham, NC, USA. ^[18] Thoracic Aortic Center and Cardiovascular Genetics Program, Division of Cardiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. ^[19] Division of Cardiology, The Hospital for Sick Children, Labatt Family Heart Centre, Toronto, Ontario, Canada. ^[20] Department of Molecular Medicine and Surgery, University Hospital Solna, Karolinska Institutet, Stockholm, Sweden. ^[21] Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. ^[22] Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. ^[23] Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.;Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands. ^[24] The Jackson Laboratory, Bar Harbor, ME, USA.;Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada. ^[25] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. andy@jhmi.edu.;Department of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. andy@jhmi.edu.;Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. andy@jhmi.edu. ^[26] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. hdietz@jhmi.edu.;Howard Hughes Medical Institute, Baltimore, MD, USA. hdietz@jhmi.edu.;Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. hdietz@jhmi.edu.;Department of Pediatrics, Division of Pediatric Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. hdietz@jhmi.edu. ^[27]