Detalhe da pesquisa
1.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 98(6): 1067-1076, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27181684
2.
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1100-1110, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287922
3.
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1261-1262, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670880
4.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med
; 19(5): 575-582, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27811861
5.
Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.
Genet Med
; 19(7): 787-795, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28125075
6.
Point of care assessment of melanoma tumor signaling and metastatic burden from µNMR analysis of tumor fine needle aspirates and peripheral blood.
Nanomedicine
; 13(3): 821-828, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27993725
7.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 99(1): 247, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392081
8.
Molecular characterization of scant lung tumor cells using iron-oxide nanoparticles and micro-nuclear magnetic resonance.
Nanomedicine
; 10(3): 661-8, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24200523
9.
Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.
Cancer Med
; 13(3): e6852, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38308423
10.
Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata.
Cancer Prev Res (Phila)
; 17(5): 201-208, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38638033
11.
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
12.
Comparison of select cancer biomarkers in human circulating and bulk tumor cells using magnetic nanoparticles and a miniaturized micro-NMR system.
Nanomedicine
; 9(7): 1009-17, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23570873
13.
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
14.
Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family.
Cancer Genet
; 268-269: 128-136, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368126
15.
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
16.
Vulvar Melanoma in association with germline MITF p.E318K variant.
Cancer Genet
; 262-263: 102-106, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35220194
17.
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
18.
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
19.
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
20.
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