Associated Papers
The cytidine deaminase APOBEC3A regulates nucleolar function to promote cell growth and ribosome biogenesis.
McCool MA et al.
Plos Biology, 2024
38976757 (PubMed )
Supplement: pbio.3002718.s019.xlsx › Data_G_nuclear_variants
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_A__references_
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis.
Sikora J et al.
Kidney International, 2022
Identification of candidate genes in a family with cancer overload by whole-exome sequencing.
Ödemiş DA et al.
The Turkish Journal of Pediatrics, 2022
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
Brancaccio M et al.
Diagnostics (basel, Switzerland), 2021
34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM10_ESM.xlsx › Supplementary_Data_7
Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.
Pandey K et al.
Genes, 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
Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry.
Minarik L et al.
Folia Biologica, 2020
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Zhang C et al.
Genome Biology, 2019
31640808 (PubMed )
Supplement: 13059_2019_1838_MOESM4_ESM.xlsx › Sheet1
KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.
Kim J et al.
Scientific Reports, 2018
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E et al.
Scientific Reports, 2017
28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM4_ESM.xls › 3821-rare_exonic_variants
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Raaijmakers MI et al.
Oncotarget, 2016
27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_1_primary
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
Involvement of the modifier gene of a human Mendelian disorder in a negative selection process.
Jéru I et al.
Plos One, 2009
Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.
Kan T et al.
Bioinformatics and Biology Insights, 2007
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