Detalhe da pesquisa
1.
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.
Am J Hum Genet
; 111(1): 24-38, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38103548
2.
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
Am J Hum Genet
; 108(12): 2248-2258, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34793697
3.
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
J Med Genet
; 60(6): 568-575, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36600593
4.
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
J Allergy Clin Immunol
; 149(1): 327-339, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864888
5.
An algorithm for optimal testing in co-segregation analysis.
Hum Mutat
; 43(5): 547-556, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35225377
6.
Harmonizing variant classification for return of results in the All of Us Research Program.
Hum Mutat
; 43(8): 1114-1121, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34923710
7.
Implementation of pharmacogenomic clinical decision support for health systems: a cost-utility analysis.
Pharmacogenomics J
; 22(3): 188-197, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35365779
8.
Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access.
Genet Med
; 24(6): 1196-1205, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35305866
9.
Characterization of splice-altering mutations in inherited predisposition to cancer.
Proc Natl Acad Sci U S A
; 116(52): 26798-26807, 2019 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31843900
10.
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.
Am J Hum Genet
; 103(1): 19-29, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29887214
11.
The FamilyTalk randomized controlled trial: patient-reported outcomes in clinical genetic sequencing for colorectal cancer.
Cancer Causes Control
; 32(5): 483-492, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33591484
12.
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Genet Med
; 23(9): 1673-1680, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007000
13.
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
Genet Med
; 22(5): 825-830, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31911673
14.
Complexities of Next-Generation Sequencing in Solid Tumors: Case Studies.
J Natl Compr Canc Netw
; 18(9): 1150-1155, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32886903
15.
Exploring relatives' perceptions of participation, ethics, and communication in a patient-driven study for hereditary cancer variant reclassification.
J Genet Couns
; 29(5): 857-866, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31916645
16.
Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance.
Genet Med
; 21(6): 1435-1442, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30374176
17.
Incorporating user feedback in the design of a genetics analysis tool: A two-part approach.
J Biomed Inform
; 95: 103204, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31075532
18.
Patients' perspectives of variants of uncertain significance and strategies for uncertainty management.
J Genet Couns
; 28(2): 313-325, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30636062
19.
Patient goals, motivations, and attitudes in a patient-driven variant reclassification study.
J Genet Couns
; 28(3): 558-569, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31163102
20.
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Hum Mutat
; 39(11): 1641-1649, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311378