Associated Papers
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
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S5
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.
Lewis MA et al.
Plos Genetics, 2023
Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.
Priedigkeit N et al.
Breast Cancer Research : Bcr, 2021
33407744 (PubMed )
Supplement: 13058_2020_1379_MOESM2_ESM.xlsx › S4
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Thiffault I et al.
Cold Spring Harbor Molecular Case Studies, 2020
32358097 (PubMed )
Supplement: supp_mcs.a003970_Supplemental_Table.xlsx › Variants_in_OMIM
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