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Last Posted: Mar 18, 2023

• Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
  Daniel Greene et al. Nature medicine 2023 3
• Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features.
  Wang Yu et al. JAMA cardiology 2022
• Role of Clinical Genetic Testing in the Management of Aortopathies.
  Harris Stephanie L et al. Current cardiology reports 2021 Jan 23(2) 10
• Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
  Braverman Alan C et al. JAMA cardiology 2020 Oct
• Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing.
  Bombardieri Elisa et al. Swiss medical weekly 2020 Mar 150w20189
• Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection.
  Kaadan M Ihsan et al. Circulation. Genomic and precision medicine 2018 11(4) e001933
• Systematic review of Quality of Life in persons with Hereditary Thoracic Aortic Aneurysm and Dissection diagnoses.
  Velvin Gry et al. Clinical genetics 2019 Feb
• Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Multidisciplinary Team Experience.
  Manchola-Linero Alejandra et al. Revista espanola de cardiologia (English ed.) 2018 Jul 71(7) 585-587
• CLINGEN Actionability Report for Loeys-Dietz Syndrome - SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
  ClinGen Actionability Working Group
• CLINGEN Actionability Report for Arterial tortuosity syndrome - SLC2A10
  ClinGen Actionability Working Group
• CLINGEN Actionability Report for Familial thoracic aortic aneurysms and dissections (FTAAD)- FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11
  ClinGen Actionability Working Group
• Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.
  Hicks Kelli L et al. Journal of vascular surgery 2018 Mar
• A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling.
  Hitchcock Emma et al. Journal of genetic counseling 2016 Oct
• Loeys-Dietz syndrome
  From NCATS Genetic and Rare Diseases Information Center
• Loeys-Dietz syndrome type 1
  From NCATS Genetic and Rare Diseases Information Center
• Loeys-Dietz syndrome type 2
  From NCATS Genetic and Rare Diseases Information Center
• Loeys-Dietz syndrome type 3
  From NCATS Genetic and Rare Diseases Information Center
• Loeys-Dietz syndrome type 4
  From NCATS Genetic and Rare Diseases Information Center