Detalhe da pesquisa
1.
Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions.
Hum Mutat
; 41(8): 1365-1371, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32383249
2.
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Genet Med
; 21(11): 2442-2452, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160754
3.
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Clin Genet
; 96(3): 236-245, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31170325
4.
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
5.
Systematic design and comparison of expanded carrier screening panels.
Genet Med
; 20(1): 55-63, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640244
6.
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.
Clin Chem
; 64(7): 1063-1073, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29760218
7.
Upstream transcription factor 1 influences plasma lipid and metabolic traits in mice.
Hum Mol Genet
; 19(4): 597-608, 2010 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19995791
8.
Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia.
Arterioscler Thromb Vasc Biol
; 28(6): 1193-9, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18340007
9.
Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.
PeerJ
; 4: e2162, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27375968