Detalhe da pesquisa
1.
Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes.
Genet Med
; 22(1): 60-68, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31312045
2.
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Am J Hum Genet
; 98(6): 1051-1066, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27181682
3.
Returning negative results to individuals in a genomic screening program: lessons learned.
Genet Med
; 21(2): 409-416, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875426
4.
Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines.
Genet Med
; 21(11): 2431-2438, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160753
5.
Correction: Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes.
Genet Med
; 21(12): 2846, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31341244
6.
Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings.
Genet Med
; 21(5): 1092-1099, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237575
7.
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.
Hum Mutat
; 39(11): 1677-1685, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311382
8.
ClinGen--the Clinical Genome Resource.
N Engl J Med
; 372(23): 2235-42, 2015 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26014595
9.
"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.
Genet Med
; 20(3): 313-319, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29593351
10.
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(2): 169-171, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29323668
11.
The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study.
Genet Med
; 20(7): 760-769, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261173
12.
Return of genomic results to research participants: the floor, the ceiling, and the choices in between.
Am J Hum Genet
; 94(6): 818-26, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24814192
13.
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.
Genet Med
; 19(11): 1207-1216, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28518170
14.
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Genet Med
; 19(2): 249-255, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27854360
15.
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
16.
Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family.
J Heart Valve Dis
; 26(5): 569-580, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29762926
17.
Tamoxifen Dose Escalation in Patients With Diminished CYP2D6 Activity Normalizes Endoxifen Concentrations Without Increasing Toxicity.
Oncologist
; 21(7): 795-803, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27226358
18.
The promise and peril of genomic screening in the general population.
Genet Med
; 18(6): 593-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26540154
19.
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.
Genet Med
; 18(5): 467-75, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26270767
20.
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
Genet Med
; 18(12): 1258-1268, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27124788