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
Genome-wide association study of maternal plasma metabolites during pregnancy.
Liu S et al.
Cell Genomics, 2024
39389015 (PubMed )
Supplement: mmc8.xlsx › Table_S7
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
Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications.
Sterenborg RBTM et al.
Nature Communications, 2024
Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.
Buianova A et al.
Plos One, 2024
39423205 (PubMed )
Supplement: pone.0312335.s008.xlsx › Pathogenic_Fam_B__references_
Partial Thyroid Hormone-Binding Globulin Deficiency: A Case Report and Literature Review.
Liu X et al.
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2023
Complete genome sequence and bioinformatics analysis of nine Egyptian females with clinical information from different geographic regions in Egypt.
ElHefnawi M et al.
Gene, 2021
Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.
Fang Y et al.
Molecular Genetics & Genomic Medicine, 2021
The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
Crumbaker M et al.
Cancers, 2020
32392735 (PubMed )
Supplement: cancers-12-01178-s001.zip › cancers-762392-suppl-final › cancers-762392.xlsx › TableS1._Selected_germline_SNVs
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Novel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report.
Dang PP et al.
World Journal of Clinical Cases, 2019
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S002
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf
Aromatase inhibition remodels the clonal architecture of estrogen-receptor-positive breast cancers.
Miller CA et al.
Nature Communications, 2016
27502118 (PubMed )
Supplement: ncomms12498-s3.xls › Sheet1
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.
Preeprem T et al.
Biodata Mining, 2013
24365473 (PubMed )
Supplement: 1756-0381-6-24-S2.xlsx › Additional_Table_9
Identification and analysis of deleterious human SNPs.
Yue P et al.
Journal of Molecular Biology, 2006
Select a paper to view details