Associated Papers
Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
37895139 (PubMed )
Supplement: ijms-24-15461-s001.zip › ijms-2642793-supplementary.pdf
Validating Amino Acid Variants in Proteogenomics Using Sequence Coverage by Multiple Reads.
Levitsky LI et al.
Journal of Proteome Research, 2022
35536917 (PubMed )
Supplement: pr2c00033_si_002.pdf
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
The Associations of PMF1, ICAM1, AGT, TRIM65, FBF1, and ACOX1 Variants With Leukoaraiosis in Chinese Population.
Huang WQ et al.
Frontiers in Genetics, 2019
Exome-based proteogenomics of HEK-293 human cell line: Coding genomic variants identified at the level of shotgun proteome.
Lobas AA et al.
Proteomics, 2016
Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.
Verhaaren BF et al.
Circulation. Cardiovascular Genetics, 2015
Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.
Reimann E et al.
Human Genomics, 2014
Novel insights into breast cancer genetic variance through RNA sequencing.
Horvath A et al.
Scientific Reports, 2013
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