Detalhe da pesquisa
1.
The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy.
Annu Rev Genomics Hum Genet
; 22: 285-307, 2021 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33900788
2.
Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.
Hum Mol Genet
; 21(18): 3993-4006, 2012 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22678057
3.
Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.
Breast Cancer Res Treat
; 147(1): 119-32, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25085752
4.
Mutator suppression and escape from replication error-induced extinction in yeast.
PLoS Genet
; 7(10): e1002282, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22022273
5.
Genomic Data Heterogeneity across Molecular Diagnostic Laboratories: A Real-World Connect Myeloid Disease Registry Perspective on Variabilities in Genomic Assay Methodology and Reporting.
J Mol Diagn
; 25(8): 611-618, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517825
6.
Binding of the dimeric Deinococcus radiodurans single-stranded DNA binding protein to single-stranded DNA.
Biochemistry
; 49(38): 8266-75, 2010 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-20795631
7.
Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes.
J Community Genet
; 8(2): 87-95, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28050887
8.
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.
J Community Genet
; 6(4): 351-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25782689
9.
Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic "functional" symptomatology including pain, fatigue and gastrointestinal dysmotility.
Mitochondrion
; 23: 64-70, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26022780
10.
Predicting sites of ADAR editing in double-stranded RNA.
Nat Commun
; 2: 319, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21587236
11.
Polar destabilization of DNA duplexes with single-stranded overhangs by the Deinococcus radiodurans SSB protein.
Biochemistry
; 45(48): 14490-502, 2006 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-17128988
12.
Crystal structure of the Deinococcus radiodurans single-stranded DNA-binding protein suggests a mechanism for coping with DNA damage.
Proc Natl Acad Sci U S A
; 101(23): 8575-80, 2004 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-15159541