Associated Papers
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.
Wang Z et al.
Journal of Human Genetics, 2024
Prevalence and Influence of Genetic Variants on Follow-Up Results in Patients Surviving Thoracic Aortic Therapy.
Ghazy T et al.
Journal of Clinical Medicine, 2024
39274466 (PubMed )
Supplement: jcm-13-05254-s001.zip › jcm-3134559-supplementary.pdf
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.
Serio VB et al.
Journal of Clinical Medicine, 2022
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM4_ESM.xlsx › ST21
Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.
Mattassi R et al.
Journal of Vascular Surgery, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Boileau C et al.
Nature Genetics, 2012
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