Concepedia

Aortopathy Genetics

Aortopathy Genetics is the academic discipline that investigates the genetic basis, molecular mechanisms, and inherited patterns underlying structural and functional abnormalities of the aorta within the broader field of Cardiovascular Genetics.

295

Publications

18K

Citations

2.3K

Authors

754

Institutions

Publications per year

2017–2026

94

Parents

Children

Publications

295

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

Ingrid M.B.H. van de Laar, Rogier A. Oldenburg, Gerard Pals et al. · Nature Genetics · 2011 · 674 citations

, , +11

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

Li‐Min Zhu, Roger Vranckx, Philippe Khau Van Kien et al. · Nature Genetics · 2006 · 614 citations

, , +14

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

Lygia V. Pereira, Sui Ying Lee, Barbara Gayraud-Morel et al. · Proceedings of the National Academy of Sciences · 1999 · 549 citations

, , +17

Familial Thoracic Aortic Aneurysms and Dissections—Incidence, Modes of Inheritance, and Phenotypic Patterns

Gonzalo Albornoz, Michael A. Coady, Michele Roberts et al. · The Annals of Thoracic Surgery · 2006 · 494 citations · Full text

, , +16

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Mark E. Lindsay, Dorien Schepers, Nikhita Bolar et al. · Nature Genetics · 2012 · 464 citations · Full text

, , +16

1–5 of 295

Authors

2.3K

  1. DM
    Dianna M. Milewicz

    The University of Texas Health Science Center at Houston, United States

    24 publications · 2.7K citations

    22

    h-index

  2. HC
    Harry C. Dietz

    Johns Hopkins University, United States

    12 publications · 2.2K citations

    12

    h-index

  3. ES
    Ellen S. Regalado

    The University of Texas Health Science Center at Houston, United States

    12 publications · 1.7K citations

    12

    h-index

  4. BL
    Bart Loeys

    Ghent University Hospital, Belgium

    10 publications · 1.1K citations

    10

    h-index

  5. GJ
    Guillaume Jondeau

    Inserm, France

    10 publications · 1.4K citations

    10

    h-index

1–5 of 2.3K

Institutions

754

  1. The University of Texas Health Science Center at Houston

    Houston, United States

    18 h-index

    72 publications

    10.2K citations

  2. Baylor College of Medicine

    Houston, United States

    16 h-index

    36 publications

    3.6K citations

  3. Inserm

    Paris, France

    16 h-index

    100 publications

    11K citations

  4. University of Washington

    Seattle, United States

    15 h-index

    60 publications

    6.7K citations

  5. Assistance Publique – Hôpitaux de Paris

    Paris, France

    13 h-index

    80 publications

    7.3K citations

  6. Johns Hopkins University

    Baltimore, United States

    13 h-index

    69 publications

    16.6K citations

  7. Université Paris Cité

    Paris, France

    13 h-index

    87 publications

    11.6K citations

  8. Radboud University Nijmegen

    Nijmegen, The Netherlands

    12 h-index

    46 publications

    8K citations

1–8 of 754

Venues

  1. Journal of Vascular Surgery

    17 publications · 1.2K citations

    15

    h-index

  2. Arteriosclerosis Thrombosis and Vascular Biology

    10 publications · 628 citations

    10

    h-index

  3. The American Journal of Cardiology

    9 publications · 348 citations

    9

    h-index

  4. American Journal of Medical Genetics Part A

    9 publications · 454 citations

    9

    h-index

  5. PubMed

    Repository · 8 publications · 484 citations

    8

    h-index

1–5