Associated Papers
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 2024
38633426 (PubMed )
Supplement: lqae033_supplemental_files.zip › Supplementary_Table_1.xlsx › Supplementary_Table_1
Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.
Parada-Márquez JF et al.
Frontiers in Pharmacology, 2023
37021041 (PubMed )
Supplement: Table2.xlsx › Hoja1
PharmVar GeneFocus: CYP3A5.
Rodriguez-Antona C et al.
Clinical Pharmacology and Therapeutics, 2022
The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.
Zhou Y et al.
The Pharmacogenomics Journal, 2022
36068297 (PubMed )
Supplement: 41397_2022_288_MOESM4_ESM.xlsx › Sheet1
Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.
Silgado-Guzmán DF et al.
Frontiers in Pharmacology, 2022
35846994 (PubMed )
Supplement: Table2.xlsx › Hoja1
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.
Aboul-Soud MAM et al.
Saudi Journal of Biological Sciences, 2021
33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar SM et al.
International Journal of Molecular Sciences, 2020
32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › In_House_LOF
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 2019
31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Saleheen D et al.
Nature, 2017
28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
Lhota F et al.
Clinical Genetics, 2016
RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.
Zemankova P et al.
Clinical Genetics, 2016
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