Associated Papers
Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan.
Chen HL et al.
Nature Communications, 2024
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf
Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases.
Mhatre I et al.
Scientific Reports, 2023
37798313 (PubMed )
Supplement: 41598_2023_44127_MOESM2_ESM.pdf
Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.
Lunghi B et al.
International Journal of Molecular Sciences, 2023
SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.
Drouet C et al.
Frontiers in Allergy, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Ponard D et al.
Human Mutation, 2020
Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.
Graham SE et al.
Nature Communications, 2019
31015462 (PubMed )
Supplement: 41467_2019_9861_MOESM1_ESM.pdf
A gender-specific association of the polymorphism Ile197Met in the kininogen 1 gene with plasma irbesartan concentrations in Chinese patients with essential hypertension.
Hu S et al.
Journal of Human Hypertension, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3
Genetic analysis of hereditary angioedema in a Brazilian family by targeted next generation sequencing.
Veronez CL et al.
Biological Chemistry, 2016
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