Detalhe da pesquisa
1.
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
Am J Hum Genet
; 103(3): 328-337, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100086
2.
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Am J Hum Genet
; 100(6): 895-906, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28552198
3.
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(6): 989-995, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33727704
4.
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.
Proc Natl Acad Sci U S A
; 110(12): 4667-72, 2013 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-23487782
5.
COVID-19 outcomes and the human genome.
Genet Med
; 22(7): 1175-1177, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32393819
6.
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Hum Mutat
; 34(10): 1415-23, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23878096
7.
Genome-first findings require precision phenotyping.
Genet Med
; 20(12): 1510-1511, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29884840
8.
Comparing electronic health record portals to obtain patient-entered family health history in primary care.
J Gen Intern Med
; 28(12): 1558-64, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23588670
9.
Obtaining a Genetic Family History Using Computer-Based Tools.
Curr Protoc Hum Genet
; 100(1): e72, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30335217
10.
Risks of presymptomatic direct-to-consumer genetic testing.
N Engl J Med
; 363(12): 1100-1, 2010 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20843242
11.
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
JAMA Netw Open
; 1(5): e182140, 2018 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30646163
12.
Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
Science
; 354(6319)2016 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28008010
13.
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Science
; 354(6319)2016 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28008009
14.
Bringing monogenic disease screening to the clinic.
Nat Med
; 26(8): 1172-1174, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32733075
15.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Genome Biol
; 15(3): R53, 2014 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24667040
16.
The application of computer-based tools in obtaining the genetic family history.
Curr Protoc Hum Genet
; Chapter 9: Unit 9.21, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20582917
17.
Health-care referrals from direct-to-consumer genetic testing.
Genet Test Mol Biomarkers
; 14(6): 817-9, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20979566