Detalhe da pesquisa
1.
Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.
Am J Hum Genet
; 110(8): 1249-1265, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37506692
2.
Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory.
Genet Med
; 24(1): 192-200, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906498
3.
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
Am J Hum Genet
; 102(6): 1078-1089, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754767
4.
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1100-1110, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287922
5.
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1261-1262, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670880
6.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Genome Res
; 25(3): 305-15, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25637381
7.
Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(12): 1489-1498, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30297698
8.
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(2): 169-171, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29323668
9.
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(8): 100866, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37347242
10.
Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome.
Clin Genet
; 104(2): 269-271, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36932902
11.
Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.
Genet Med
; 19(7): 803-808, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28079899
12.
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Genet Med
; 19(2): 249-255, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27854360
13.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med
; 19(5): 575-582, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27811861
14.
Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.
Genet Med
; 18(12): 1290-1294, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27253733
15.
Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1582-1584, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345026
16.
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1381-1390, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012068
17.
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1391-1398, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012069
18.
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
Am J Med Genet A
; 170(3): 574-82, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26792268
19.
Generating a taxonomy for genetic conditions relevant to reproductive planning.
Am J Med Genet A
; 170(3): 565-73, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26889673
20.
Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.
Genet Med
; 17(3): 219-25, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25077647