Detalles de la búsqueda
1.
Establishing the Medical Actionability of Genomic Variants.
Annu Rev Genomics Hum Genet
; 23: 173-192, 2022 08 31.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38481315
5.
Low adenoma burden in unselected patients with a pathogenic APC variant.
Genet Med
; 25(12): 100949, 2023 Dec.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35341655
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30100086
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33786929
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28552198
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32350418
12.
Clinical outcomes of a genomic screening program for actionable genetic conditions.
Genet Med
; 22(11): 1874-1882, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32601386
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32414353
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29976988
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29875427
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30311382
17.
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
Genet Med
; 20(5): 554-558, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29261187
18.
Cancer Genetic Counseling and Testing in an Era of Rapid Change.
J Genet Couns
; 26(6): 1244-1253, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28434142
19.
Adherence to Recommended Risk Management among Unaffected Women with a BRCA Mutation.
J Genet Couns
; 26(1): 79-92, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27265406
20.
Clinical utility of a Web-enabled risk-assessment and clinical decision support program.
Genet Med
; 18(10): 1020-8, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-26938783