Detalhe da pesquisa
1.
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
2.
Rare loss of function variants in candidate genes and risk of colorectal cancer.
Hum Genet
; 137(10): 795-806, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30267214
3.
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
4.
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Am J Hum Genet
; 93(4): 631-40, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24055113
5.
Targeted capture and massively parallel sequencing of 12 human exomes.
Nature
; 461(7261): 272-6, 2009 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-19684571
6.
Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL.
J Lipid Res
; 54(2): 552-60, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23160181
7.
Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.
Anesthesiology
; 119(5): 1054-65, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24013571
8.
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.
Am J Hum Genet
; 84(5): 692-7, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19409521
9.
Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study.
Contemp Clin Trials
; 84: 105820, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31400517
10.
Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network.
Genome Med
; 7(1): 67, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26221186
11.
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
Circ Cardiovasc Genet
; 6(2): 144-53, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23418287
12.
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
Circ Cardiovasc Genet
; 5(2): 167-74, 2012 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22337857