Associated Papers
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T et al.
Journal of the American Heart Association, 2023
37042257 (PubMed )
Supplement: JAH3-12-e028625-s001.pdf
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.
Baldo F et al.
Italian Journal of Pediatrics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.
Valenzuela I et al.
European Journal of Medical Genetics, 2017
Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.
Cammareri P et al.
Nature Communications, 2016
27558455 (PubMed )
Supplement: ncomms12493-s16.xlsx › Supplementary_Data_Table_14
Select a paper to view details