Associated Papers
Identification of candidate genes associated with bipolar disorder by whole-exome sequencing of a Chinese multi-affected pedigree.
Wang Y et al.
Bmc Psychiatry, 2025
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
35101884 (PubMed )
Supplement: ccr-21-2572_supplementary_table_s6_supps6.xls › Sheet1
Investigating the pernicious effects of heparan sulfate in serum amyloid A1 protein aggregation: a structural bioinformatics approach.
Chandrasekhar G et al.
Journal of Biomolecular Structure & Dynamics, 2022
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Identification of potential genetic causal variants for rheumatoid arthritis by whole-exome sequencing.
Li Y et al.
Oncotarget, 2017
Genetic polymorphisms of serum amyloid A1 and coronary artery disease risk.
Xie X et al.
Tissue Antigens, 2015
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
24650283 (PubMed )
Supplement: pr4011475_si_001.pdf
Variant screening of the serum amyloid A1 gene and functional study of the p.Gly90Asp variant for its role in atherosclerosis.
Leow KY et al.
Atherosclerosis, 2013
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