Detalhe da pesquisa
1.
A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somatically.
Hum Mutat
; 41(1): 203-211, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31490007
2.
Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle.
Future Oncol
; 15(1): 65-79, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30113232
3.
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Gastroenterology
; 149(3): 604-13.e20, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25980754
4.
Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm.
BMC Genet
; 17(1): 99, 2016 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27363726
5.
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
Cancer
; 121(1): 25-33, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25186627
6.
Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.
BMC Cancer
; 15: 215, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25886519
7.
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
8.
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
9.
Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome.
Front Oncol
; 13: 1069467, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36793599
10.
Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis.
Fam Cancer
; 21(1): 7-19, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33469799
11.
Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period.
JCO Precis Oncol
; 42020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32923914
12.
Identification of pathogenic retrotransposon insertions in cancer predisposition genes.
Cancer Genet
; 216-217: 159-169, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29025590
13.
Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.
Circulation
; 112(11): 1612-7, 2005 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-16144992
14.
Intrafamilial variability of noncompaction of the ventricular myocardium.
Am Heart J
; 151(5): 1012.e7-14, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16644324
15.
Detection of viruses in myocardial tissues by polymerase chain reaction. evidence of adenovirus as a common cause of myocarditis in children and adults.
J Am Coll Cardiol
; 42(3): 466-72, 2003 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-12906974
16.
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.
J Am Coll Cardiol
; 42(11): 2014-27, 2003 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-14662268
17.
Genetics of inherited cardiomyopathies.
Expert Rev Cardiovasc Ther
; 2(5): 683-97, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15350170
18.
Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing.
J Clin Oncol
; 35(34): 3796-3799, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28981386
19.
Viral genomic detection and outcome in myocarditis.
Heart Fail Clin
; 1(3): 407-17, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17386863
20.
Viral endomyocardial infection is an independent predictor and potentially treatable risk factor for graft loss and coronary vasculopathy in pediatric cardiac transplant recipients.
J Am Coll Cardiol
; 56(7): 582-92, 2010 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20688214