Associated Papers
Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.
Vande Perre P et al.
International Journal of Molecular Sciences, 2025
40429818 (PubMed )
Supplement: ijms-26-04672-s001.zip › ijms-3598274-supplementary.xlsx › Supporting_information_Table_S1
Multiplexed in vivo base editing identifies functional gene-variant-context interactions.
Acosta J et al.
Biorxiv : the Preprint Server for Biology, 2025
40060482 (PubMed )
Supplement: media-4.xlsx › Table_S2A
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data
Single-cell multi-gene identification of somatic mutations and gene rearrangements in cancer.
Grimes SM et al.
Nar Cancer, 2023
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
34367342 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359211029125.xlsx › FMI_Archer
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Chirita-Emandi A et al.
Scientific Reports, 2020
31937788 (PubMed )
Supplement: 41598_2019_57080_MOESM2_ESM.xlsx › candidate_variants
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.
Staninova-Stojovska M et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
Sclerosing mucoepidermoid carcinoma with eosinophilia of the thyroid: Case report of a rare lesion with novel genetic mutation.
Wiles AB et al.
Diagnostic Cytopathology, 2019
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table
Molecular profiling of signet ring cell colorectal cancer provides a strong rationale for genomic targeted and immune checkpoint inhibitor therapies.
Alvi MA et al.
British Journal of Cancer, 2017
28595259 (PubMed )
Supplement: bjc2017168x11.xlsx › Supplementary_table_4
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
Hamblin A et al.
Plos Medicine, 2017
28196074 (PubMed )
Supplement: pmed.1002230.s004.xlsx › Colorectal_Carcinoma
Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.
Xiu J et al.
Oncotarget, 2016
26933808 (PubMed )
Supplement: oncotarget-07-21556-s001.pdf
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