Detalhe da pesquisa
1.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Cell;
169(1): 6-12, 2017 03 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28340351
2.
Cancer screening with multicancer detection tests: A translational science review.
CA Cancer J Clin;
2024 Mar 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38517462
3.
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
PLoS Genet;
14(12): e1007752, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30586411
4.
A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research.
Am J Hum Genet;
98(3): 435-441, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26942283
5.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet;
25(11): 2256-2268, 2016 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27008870
6.
ClinVar: public archive of interpretations of clinically relevant variants.
Nucleic Acids Res;
44(D1): D862-8, 2016 Jan 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26582918
7.
ClinVar: public archive of relationships among sequence variation and human phenotype.
Nucleic Acids Res;
42(Database issue): D980-5, 2014 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24234437
8.
Pharmacogenetic Gene-Drug Associations: FDA Perspective on What Physicians Need to Know.
Am Fam Physician;
104(1): 16-19, 2021 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34264612
9.
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
Am J Hum Genet;
91(1): 97-108, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22703879
10.
Evidence synthesis and guideline development in genomic medicine: current status and future prospects.
Genet Med;
17(1): 63-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24946156
11.
Impact of family history assessment on communication with family members and health care providers: A report from the Family Healthware™ Impact Trial (FHITr).
Prev Med;
77: 28-34, 2015 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25901453
12.
The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency.
Nucleic Acids Res;
41(Database issue): D925-35, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23193275
13.
Paraganglioma of the Right Recurrent Laryngeal Nerve Presenting as a Thyroid Nodule.
Cureus;
16(4): e57609, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38707130
14.
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
PLoS Genet;
6(10): e1001183, 2010 Oct 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21060860
15.
Challenges to Using Big Data in Cancer.
Cancer Res;
83(8): 1175-1182, 2023 04 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36625843
16.
Case Studies for Overcoming Challenges in Using Big Data in Cancer.
Cancer Res;
83(8): 1183-1190, 2023 04 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36625851
17.
Alcohol and tobacco lower the age of presentation in sporadic pancreatic cancer in a dose-dependent manner: a multicenter study.
Am J Gastroenterol;
107(11): 1730-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22929760
18.
Family physicians' awareness and knowledge of the Genetic Information Non-Discrimination Act (GINA).
J Genet Couns;
21(2): 345-52, 2012 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21927977
19.
Quantitating and assessing interoperability between electronic health records.
J Am Med Inform Assoc;
29(5): 753-760, 2022 04 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35015861
20.
Encoding laboratory testing data: case studies of the national implementation of HHS requirements and related standards in five laboratories.
J Am Med Inform Assoc;
29(8): 1372-1380, 2022 07 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35639494