Detalhe da pesquisa
1.
Establishing the Medical Actionability of Genomic Variants.
Annu Rev Genomics Hum Genet;
23: 173-192, 2022 08 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35363504
2.
Implementing Evidence-Based Assertions of Clinical Actionability in the Context of Secondary Findings: Updates from the ClinGen Actionability Working Group.
Genet Med;
: 101164, 2024 May 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38757444
3.
Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.
Anesthesiology;
140(1): 52-61, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37787745
4.
Real-time evaluation and adaptation to facilitate rapid recruitment in a large, prospective cohort study.
BMC Health Serv Res;
24(1): 336, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38481315
5.
Low adenoma burden in unselected patients with a pathogenic APC variant.
Genet Med;
25(12): 100949, 2023 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37542411
6.
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
BMC Med;
20(1): 205, 2022 06 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35668420
7.
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
Genet Med;
24(6): 1328-1335, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35341655
8.
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.
Genet Med;
24(5): 1130-1138, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35216901
9.
Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activities.
BMC Health Serv Res;
22(1): 1486, 2022 Dec 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36474257
10.
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
11.
Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first.
J Genet Couns;
30(3): 634-644, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33786929
12.
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
13.
Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic.
Genet Med;
22(8): 1348-1354, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32350418
14.
Clinical outcomes of a genomic screening program for actionable genetic conditions.
Genet Med;
22(11): 1874-1882, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32601386
15.
Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents.
BMC Pediatr;
20(1): 222, 2020 05 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32414353
16.
At the intersection of precision medicine and population health: an implementation-effectiveness study of family health history based systematic risk assessment in primary care.
BMC Health Serv Res;
20(1): 1015, 2020 Nov 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33160339
17.
Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background.
Genet Med;
21(3): 727-735, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29976988
18.
Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation framework.
Genet Med;
21(2): 331-338, 2019 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29875427
19.
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
20.
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
Genet Med;
20(5): 554-558, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29261187