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

Autor: Gould RA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Howard Hughes Medical Institute, Baltimore, MD, USA., Aziz H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Howard Hughes Medical Institute, Baltimore, MD, USA., Woods CE; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Seman-Senderos MA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Sparks E; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Preuss C; 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., Wünnemann F; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, Université de Montréal, Montreal, Quebec, Canada., Bedja D; 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., Moats CR; Department of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Oregon National Primate Research Center, Portland, OR, USA., McClymont SA; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Rose R; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Sobreira N; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Ling H; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA., MacCarrick G; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Kumar AA; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Luyckx I; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Cannaerts E; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Verstraeten A; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Björk HM; Center for Molecular Medicine, Department of Medicine Solna, University Hospital Solna, Karolinska Institutet, Stockholm, Sweden., Lehsau AC; Department of Cardiac and Thoracic Vascular Surgery, University Hospital Lübeck, Lübeck, Germany., Jaskula-Ranga V; Wilmer Eye Institute in the Department of Ophthalmology at the Johns Hopkins University School of Medicine, Baltimore, MD, USA., Lauridsen H; The Nancy E. and Peter C. Meinig School of Biomedical Engineering, Cornell University, Ithaca, NY, USA., Shah AA; Rex Hospital, Raleigh, NC, USA., Bennett CL; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Howard Hughes Medical Institute, Baltimore, MD, USA., Ellinor PT; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Institute, Massachussets General Hospital, Charlestown, MA, USA., Lin H; Section of Computational Biomedicine, Department of Medicine, Boston University School of Medicine, Boston, MA, USA., Isselbacher EM; Thoracic Aortic Center, Division of Cardiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Lino Cardenas CL; Cardiovascular Research Center, Division of Cardiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Butcher JT; The Nancy E. and Peter C. Meinig School of Biomedical Engineering, Cornell University, Ithaca, NY, USA., Hughes GC; Division of Cardiovascular and Thoracic Surgery, Duke University Medical Center, Durham, NC, USA., Lindsay ME; Thoracic Aortic Center and Cardiovascular Genetics Program, Division of Cardiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Mertens L; Division of Cardiology, The Hospital for Sick Children, Labatt Family Heart Centre, Toronto, Ontario, Canada., Franco-Cereceda A; Department of Molecular Medicine and Surgery, University Hospital Solna, Karolinska Institutet, Stockholm, Sweden., Verhagen JMA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Wessels M; Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Mohamed SA; Department of Cardiac and Thoracic Vascular Surgery, University Hospital Lübeck, Lübeck, Germany., Eriksson P; Center for Molecular Medicine, Department of Medicine Solna, University Hospital Solna, Karolinska Institutet, Stockholm, Sweden., Mital S; Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Van Laer L; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Loeys BL; 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., Andelfinger G; The Jackson Laboratory, Bar Harbor, ME, USA.; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada., McCallion AS; 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., Dietz HC; 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.

Publikováno v: Nature genetics [Nat Genet] 2019 Jan; Vol. 51 (1), pp. 42-50. Date of Electronic Publication: 2018 Nov 19.