Detalhe da pesquisa
1.
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(9): 100358, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470789
2.
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(2): 100336, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524989
3.
Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors.
J Genet Couns
; 32(2): 266-280, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36281494
4.
Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors.
J Genet Couns
; 32(3): 540-557, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36756860
5.
An evidence-based practice guideline of the National Society of Genetic Counselors for telehealth genetic counseling.
J Genet Couns
; 32(1): 4-17, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054686
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.
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.
Genet Med
; 24(7): 1379-1391, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35608568
8.
Genetic testing for the epilepsies: A systematic review.
Epilepsia
; 63(2): 375-387, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34893972
9.
Expanded carrier screening in the United States: A systematic evidence review exploring client and provider experiences.
J Genet Couns
; 31(4): 937-948, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35212439
10.
The uptake and utility of genetic testing and genetic counseling for hypertrophic cardiomyopathy-A systematic review and meta-analysis.
J Genet Couns
; 31(6): 1290-1305, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35799446
11.
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(11): 2029-2037, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34211152
12.
Telehealth for genetic counseling: A systematic evidence review.
J Genet Couns
; 30(5): 1361-1378, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34355839
13.
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
Genet Med
; 22(6): 986-1004, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32203227
14.
Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.
Circ Res
; 120(2): 341-353, 2017 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899403
15.
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(8): 100874, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37378664
16.
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.
Genet Med
; 24(9): 1992, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36063164
17.
Cross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia.
Carcinogenesis
; 35(9): 2068-73, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24832084
18.
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
19.
Opioid-prescribing considerations in patients with cancer and substance misuse or substance use disorder: a scoping review protocol.
JBI Evid Synth
; 21(4): 812-825, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36404752
20.
Trends in guideline implementation: an updated scoping review protocol.
JBI Evid Synth
; 20(4): 1106-1112, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34402491