Associated Papers
Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.
Tang QY et al.
Imetaomics, 2025
41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D
EMP3 sustains oncogenic EGFR/CDK2 signaling by restricting receptor degradation in glioblastoma.
Martija AA et al.
Acta Neuropathologica Communications, 2023
37936247 (PubMed )
Supplement: 40478_2023_1673_MOESM5_ESM.xlsx › 344996
Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.
Aitkulova A et al.
Biomedical Reports, 2022
35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants
APOBEC SBS13 Mutational Signature-A Novel Predictor of Radioactive Iodine Refractory Papillary Thyroid Carcinoma.
Siraj S et al.
Cancers, 2022
35326735 (PubMed )
Supplement: cancers-14-01584-s001.zip › SupplementaryTables.xlsx › Supplementary_Table_S3
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
34103343 (PubMed )
Supplement: jnnp-2020-325437supp002.pdf
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
Bagyinszky E et al.
Brain Sciences, 2021
34679393 (PubMed )
Supplement: brainsci-11-01328-s001.zip › brainsci-1394263-supplementary.pdf
VENUS, a Novel Selection Approach to Improve the Accuracy of Neoantigens' Prediction.
Leoni G et al.
Vaccines, 2021
34452005 (PubMed )
Supplement: vaccines-09-00880-s001.zip › SupplementaryTable1.xlsx › 4166
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
Sha Y et al.
Bmc Medical Genetics, 2019
31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1
The genetic landscape of benign thyroid nodules revealed by whole exome and transcriptome sequencing.
Ye L et al.
Nature Communications, 2017
28580939 (PubMed )
Supplement: ncomms15533-s4.xlsx › mutation_list
Integrated genomic analyses of de novo pathways underlying atypical meningiomas.
Harmancı AS et al.
Nature Communications, 2017
28195122 (PubMed )
Supplement: ncomms14433-s3.xlsx › Table_S2D
The Genomic Landscape of Renal Oncocytoma Identifies a Metabolic Barrier to Tumorigenesis.
Joshi S et al.
Cell Reports, 2015
26655904 (PubMed )
Supplement: NIHMS762760-supplement-Table_S2.pdf
BRAF V600E mutation in early-stage multiple myeloma: good response to broad acting drugs and no relation to prognosis.
Rustad EH et al.
Blood Cancer Journal, 2015
25794135 (PubMed )
Supplement: bcj201524x1.xls › Sheet1
Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.
Tan ZP et al.
Scientific Reports, 2014
25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new
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