Detalhe da pesquisa
1.
Deriving tumor purity from cancer next generation sequencing data: applications for quantitative ERBB2 (HER2) copy number analysis and germline inference of BRCA1 and BRCA2 mutations.
Mod Pathol
; 35(10): 1458-1467, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35902772
2.
NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies.
Mol Cell
; 51(4): 423-39, 2013 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23973373
3.
Loss of the ciliary kinase Nek8 causes left-right asymmetry defects.
J Am Soc Nephrol
; 24(1): 100-12, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23274954
4.
Validation of targeted next-generation sequencing of cell-free DNA from archival cerebrospinal fluid specimens for the detection of somatic variants in cancer involving the leptomeninges: Cytopathologic and radiographic correlation.
Cancer Cytopathol
; 132(4): 214-223, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37812603
5.
HER2/ERBB2 copy number analysis by targeted next-generation sequencing in breast cancer.
Am J Clin Pathol
; 161(5): 436-442, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38104247
6.
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Cancers (Basel)
; 16(5)2024 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38473309
7.
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
N Engl J Med
; 362(3): 206-16, 2010 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-20089971
8.
Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.
Front Oncol
; 13: 1284690, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38344144
9.
Contamination Assessment for Cancer Next-Generation Sequencing.
Arch Pathol Lab Med
; 146(2): 227-232, 2022 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34015814
10.
An optimized protocol for evaluating pathogenicity of VHL germline variants in patients suspected with von Hippel-Lindau syndrome: Using somatic genome to inform the role of germline variants.
MethodsX
; 9: 101761, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35774415
11.
An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.
Front Oncol
; 12: 942741, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36091175
12.
The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia.
Nat Commun
; 13(1): 3690, 2022 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35760976
13.
Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer.
Nat Med
; 28(8): 1581-1589, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35739269
14.
Assessment of genomic alterations in non-syndromic von Hippel-Lindau: Insight from integrating somatic and germline next generation sequencing genomic data.
Data Brief
; 39: 107653, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34934780
15.
Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results.
Eur J Med Genet
; 64(12): 104359, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34628056
16.
Germline Sequencing Improves Tumor-Only Sequencing Interpretation in a Precision Genomic Study of Patients With Pediatric Solid Tumor.
JCO Precis Oncol
; 52021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34964003
17.
Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report.
Am J Case Rep
; 21: e927293, 2020 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33303731
18.
Targeted Informatics for Optimal Detection, Characterization, and Quantification of FLT3 Internal Tandem Duplications Across Multiple Next-Generation Sequencing Platforms.
J Mol Diagn
; 22(9): 1162-1178, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32603763
19.
ViroPanel: Hybrid Capture and Massively Parallel Sequencing for Simultaneous Detection and Profiling of Oncogenic Virus Infection and Tumor Genome.
J Mol Diagn
; 22(4): 476-487, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32068070
20.
Nek8 regulates the expression and localization of polycystin-1 and polycystin-2.
J Am Soc Nephrol
; 19(3): 469-76, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18235101