Associated Papers
Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium.
Asokan KL et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants.
Beil A et al.
Bmc Medical Genomics, 2021
Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.
Wolford BN et al.
Circulation. Genomic and Precision Medicine, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Clinical Relevance of Genomic Changes in Recurrent Pediatric Solid Tumors.
Lee B et al.
Translational Oncology, 2018
30216764 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_S4
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model.
Renard M et al.
Plos One, 2014
24587008 (PubMed )
Supplement: pone.0089749.s003.xlsx › Sheet1
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
Yang JH et al.
Journal of Human Genetics, 2012
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
Attias D et al.
Circulation, 2009
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Stheneur C et al.
Human Mutation, 2008
The consensus coding sequences of human breast and colorectal cancers.
Sjöblom T et al.
Science (new York, N.y.), 2006
16959974 (PubMed )
Supplement: 1133427_som_tables.zip › Table_S4_-__Somatic_mutations_identified_in_breast_and_colorectal_cancers_8-29-06.xls › Sheet1
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