Detalhe da pesquisa
1.
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
2.
Optimizing communication strategies and designing a comprehensive program to facilitate cascade testing for familial hypercholesterolemia.
BMC Health Serv Res;
23(1): 340, 2023 Apr 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37020233
3.
Elective genomic testing: Practice resource of the National Society of Genetic Counselors.
J Genet Couns;
32(2): 281-299, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36597794
4.
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
5.
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
6.
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
7.
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
8.
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
9.
Congenital Myopathy Due to Pathogenic Missense Variant in the MYBPC1 Gene.
Can J Neurol Sci;
: 1-3, 2023 Aug 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37577974
10.
Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
Genet Med;
23(12): 2470, 2021 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34646007
11.
Genetics Visit Uptake Among Individuals Receiving Clinically Actionable Genomic Screening Results.
JAMA Netw Open;
7(3): e242388, 2024 Mar 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38488794
12.
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Eur J Hum Genet;
2024 May 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38778082
13.
Testing and Management of Iron Overload After Genetic Screening-Identified Hemochromatosis.
JAMA Netw Open;
6(10): e2338995, 2023 10 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37870835
14.
Adding Protective Genetic Variants to Clinical Reporting of Genomic Screening Results: Restoring Balance.
JAMA;
317(15): 1527-1528, 2017 04 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28288260
15.
Motivating cascade testing for familial hypercholesterolemia: applying the extended parallel process model for clinician communication.
Transl Behav Med;
12(7): 800-809, 2022 07 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35429393
16.
The impact of the number of tests presented and a provider recommendation on decisions about genetic testing for cancer risk.
Patient Educ Couns;
104(2): 265-275, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32994107
17.
Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants.
Circ Genom Precis Med;
14(2): e003302, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33684294
18.
Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience.
Health Aff (Millwood);
37(5): 757-764, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29733722
19.
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
JAMA Netw Open;
1(5): e182140, 2018 09 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30646163
20.
A Model for the Integration of Genome Sequencing Into a Pediatric Cardiology Clinic.
Can J Cardiol;
38(9): 1454-1457, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35469975