Associated Papers
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Drost M et al.
Hgg Advances, 2026
40988334 (PubMed )
Supplement: mmc2.xlsx › Table_S2
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5
Evaluation of Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration (EBUS-TBNA) Samples from Advanced Non-Small Cell Lung Cancer for Whole Genome, Whole Exome and Comprehensive Panel Sequencing.
Fielding D et al.
Cancers, 2024
38398180 (PubMed )
Supplement: cancers-16-00785-s001.zip › Table_S4.xlsx › Supplementary_Table_biomarkers
Penetrance of Gastric Adenocarcinoma Susceptibility Genes: A Systematic Review.
Hosseini S et al.
Annals of Surgical Oncology, 2023
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.
Lampson BL et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2023
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.
Bhai P et al.
Frontiers in Oncology, 2023
37483495 (PubMed )
Supplement: Table_6.xlsx › Comprehensive_panel
A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.
Coovadia A et al.
Plos One, 2023
38032981 (PubMed )
Supplement: pone.0295010.s001.doc
Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.
Yao Q et al.
Frontiers in Oncology, 2022
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Dalmasso B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Henn J et al.
Hereditary Cancer in Clinical Practice, 2019
Nonamplification ERBB2 genomic alterations in 5605 cases of recurrent and metastatic breast cancer: An emerging opportunity for anti-HER2 targeted therapies.
Ross JS et al.
Cancer, 2016
Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.
Kim H et al.
Familial Cancer, 2015
Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay.
Refke M et al.
The British Journal of Dermatology, 2011
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.
Seal S et al.
Nature Genetics, 2006
Evaluation of Fanconi Anemia genes in familial breast cancer predisposition.
Seal S et al.
Cancer Research, 2003
p53 dysfunction in B-cell chronic lymphocytic leukemia: inactivation of ATM as an alternative to TP53 mutation.
Pettitt AR et al.
Blood, 2001
Select a paper to view details