Detalles de la búsqueda
1.
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Am J Hum Genet
; 107(4): 596-611, 2020 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32853555
2.
The Burden of COVID-19 on Caregivers of Children with Suspected Genetic Conditions: A Therapeutic Odyssey.
Phys Occup Ther Pediatr
; 43(3): 257-271, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36310386
3.
Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium.
Genet Med
; 24(5): 1108-1119, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35227608
4.
A review and definition of 'usual care' in genetic counseling trials to standardize use in research.
J Genet Couns
; 30(1): 42-50, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33278053
5.
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
6.
Parents' perceptions of personal utility of exome sequencing results.
Genet Med
; 22(4): 752-757, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31857707
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31312045
8.
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.
Genet Med
; 22(4): 785-792, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31754268
9.
Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty.
J Genet Couns
; 29(6): 949-959, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31967382
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31341244
11.
Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings.
Genet Med
; 21(5): 1092-1099, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30237575
12.
An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.
J Pediatr
; 209: 68-76, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30851990
13.
Secondary findings: How did we get here, and where are we going?
J Genet Couns
; 28(2): 326-333, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30821867
14.
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
15.
The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(3): 100342, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36547466
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29261173
17.
Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing.
J Genet Couns
; 27(5): 1111-1129, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29460110
18.
Is "incidental finding" the best term?: a study of patients' preferences.
Genet Med
; 19(2): 176-181, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27490114
19.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med
; 19(5): 575-582, 2017 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-27811861
20.
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.
Genet Med
; 18(5): 467-75, 2016 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-26270767