Detalhe da pesquisa
1.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hum Mutat
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084291
2.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
3.
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.
J Med Genet
; 57(1): 62-69, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31391288
4.
Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.
Nucleic Acids Res
; 47(10): e59, 2019 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30869147
5.
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Genet Med
; 22(4): 701-708, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31853058
6.
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
Genet Med
; 22(2): 407-415, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31406321
7.
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.
Genet Med
; 21(4): 861-866, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30214068
8.
Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.
Gynecol Oncol
; 152(3): 612-617, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612783
9.
Somatic TP53 variants frequently confound germ-line testing results.
Genet Med
; 20(8): 809-816, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29189820
10.
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 20(9): 1099-1102, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388939
11.
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
Breast Cancer Res Treat
; 161(3): 575-586, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28008555
12.
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Genet Med
; 19(10): 1096-1104, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28301460
13.
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 19(2): 224-235, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27513193
14.
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
15.
Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(7): 1179-1184, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864022
16.
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Genet Med
; 17(7): 578-86, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25356970
17.
ELP2 is a novel gene implicated in neurodevelopmental disabilities.
Am J Med Genet A
; 167(6): 1391-5, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847581
18.
Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2.
Gynecol Oncol
; 137(1): 86-92, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25622547
19.
Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.
Genet Med
; 16(5): 395-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24113345
20.
Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 21(6): 1267-1270, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31015575