Detalhe da pesquisa
1.
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Am J Hum Genet
; 107(4): 596-611, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32853555
2.
Extending an Antiracism Lens to the Implementation of Precision Public Health Interventions.
Am J Public Health
; 113(11): 1210-1218, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37651661
3.
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
4.
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
Genet Med
; 21(4): 987-993, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181607
5.
An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.
J Pediatr
; 209: 68-76, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30851990
6.
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Hum Mutat
; 39(11): 1614-1622, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311389
7.
Correction: Foss et al. The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation. J. Pers. Med. 2022, 12, 692.
J Pers Med
; 14(3)2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38541072
8.
Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation.
Int J Neonatal Screen
; 9(3)2023 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37489489
9.
Public Interest in Population Genetic Screening for Cancer Risk.
Front Genet
; 13: 886640, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35938028
10.
Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population.
Front Genet
; 13: 867030, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35401676
11.
The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation.
J Pers Med
; 12(5)2022 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35629115
12.
Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review.
Front Genet
; 13: 865384, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35860476
13.
Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making.
Genome Med
; 13(1): 50, 2021 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33781310
14.
Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.
Trials
; 22(1): 395, 2021 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34127041
15.
FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation.
NPJ Genom Med
; 4: 32, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31839987
16.
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Circ Genom Precis Med
; 12(2): e002460, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30681346
17.
Consideration of the Beneficiary Inducement Statute on Access to Health Care Systems' Population Genetic Screening Programs.
Public Health Genomics
; 26(1): 183-187, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37778346
18.
Increasing the diagnostic yield of exome sequencing by copy number variant analysis.
PLoS One
; 13(12): e0209185, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30557390
19.
Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol.
Trials
; 19(1): 344, 2018 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29950170
20.
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.
Neurol Genet
; 4(1): e212, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29417091