Associated Papers
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1
Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency.
Vincent D et al.
The Journal of Allergy and Clinical Immunology. Global, 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
Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.
Ballonová L et al.
Frontiers in Genetics, 2023
Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).
Parsopoulou F et al.
Frontiers in Allergy, 2022
Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia.
Meroni M et al.
Frontiers in Nutrition, 2022
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.
John SE et al.
Scientific Reports, 2018
Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study.
de Vries PS et al.
Human Molecular Genetics, 2017
Revisiting the morbid genome of Mendelian disorders.
Abouelhoda M et al.
Genome Biology, 2016
27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM3_ESM.pdf
Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.
Kristjansson RP et al.
Nature Communications, 2016
Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.
John SE et al.
Genomics Data, 2015
Exome analysis reveals differentially mutated gene signatures of stage, grade and subtype in breast cancers.
Li Y et al.
Plos One, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
25333069 (PubMed )
Supplement: mgg30002-0438-SD2.pdf
DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency.
Cao H et al.
Journal of Human Genetics, 2003
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