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1.
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Bioinformatics
; 39(3)2023 03 01.
Article
in English
| MEDLINE | ID: mdl-36916756
2.
Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
J Med Genet
; 59(1): 75-78, 2022 01.
Article
in English
| MEDLINE | ID: mdl-33219106
3.
CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools.
Bioinformatics
; 37(22): 4227-4229, 2021 11 18.
Article
in English
| MEDLINE | ID: mdl-33983414
4.
BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
Genes (Basel)
; 12(2)2021 01 23.
Article
in English
| MEDLINE | ID: mdl-33498765
5.
Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.
J Mol Diagn
; 23(11): 1452-1459, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34454113
6.
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.
Eur J Hum Genet
; 28(12): 1645-1655, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32561899
7.
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Cancers (Basel)
; 12(4)2020 Mar 30.
Article
in English
| MEDLINE | ID: mdl-32235514
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