Detalhe da pesquisa
1.
Long-read assembly and comparative evidence-based reanalysis of Cryptosporidium genome sequences reveal expanded transporter repertoire and duplication of entire chromosome ends including subtelomeric regions.
Genome Res
; 32(1): 203-213, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34764149
2.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
J Transl Med
; 21(1): 282, 2023 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37101184
3.
Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.
Gut
; 70(11): 2138-2149, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33414168
4.
Rare germline genetic variants and risk of aggressive prostate cancer.
Int J Cancer
; 147(8): 2142-2149, 2020 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32338768
5.
Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?
Genet Res (Camb)
; 102: e6, 2020 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32772980
6.
Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.
Genet Med
; 20(8): 890-895, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29120461
7.
Correction: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.
Genet Med
; 20(10): 1299, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388942
8.
FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.
BMC Med Genet
; 19(1): 12, 2018 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29351780
9.
Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?
BMC Cancer
; 18(1): 165, 2018 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29422015
10.
Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics.
Hum Genomics
; 11(1): 10, 2017 05 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28511696
11.
sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data.
Int J Mol Sci
; 19(10)2018 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30326623
12.
UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing.
BMC Bioinformatics
; 17: 165, 2016 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-27083325
13.
MethPat: a tool for the analysis and visualisation of complex methylation patterns obtained by massively parallel sequencing.
BMC Bioinformatics
; 17: 98, 2016 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26911705
14.
High-resolution twin-ion metabolite extraction (HiTIME) mass spectrometry: nontargeted detection of unknown drug metabolites by isotope labeling, liquid chromatography mass spectrometry, and automated high-performance computing.
Anal Chem
; 87(8): 4104-9, 2015 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25818563
15.
Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.
Breast Cancer Res Treat
; 149(2): 547-54, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25575445
16.
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.
Fam Cancer
; 23(1): 9-21, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38063999
17.
Genomic evolution shapes prostate cancer disease type.
Cell Genom
; 4(3): 100511, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38428419
18.
Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival.
medRxiv
; 2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37090539
19.
FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets.
BMC Bioinformatics
; 14: 65, 2013 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23441864
20.
Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing.
Anal Biochem
; 442(2): 127-9, 2013 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23933242