Detalhe da pesquisa
1.
Whole-Genome Sequencing of a Healthy Aging Cohort.
Cell
; 165(4): 1002-11, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27114037
2.
Microbial Cell-Free DNA Identifies the Causative Pathogen in Infective Endocarditis and Remains Detectable Longer Than Conventional Blood Culture in Patients with Prior Antibiotic Therapy.
Clin Infect Dis
; 76(3): e1492-e1500, 2023 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35684984
3.
Long-read HiFi sequencing of NUDT15: Phased full-gene haplotyping and pharmacogenomic allele discovery.
Hum Mutat
; 43(11): 1557-1566, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36057977
4.
Microbial Cell-Free DNA Identifies Etiology of Bloodstream Infections, Persists Longer Than Conventional Blood Cultures, and Its Duration of Detection Is Associated With Metastatic Infection in Patients With Staphylococcus aureus and Gram-Negative Bacteremia.
Clin Infect Dis
; 74(11): 2020-2027, 2022 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34460909
5.
Pharmacogenomic education among genetic counseling training programs in North America.
J Genet Couns
; 30(5): 1500-1508, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33882174
6.
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.
Nature
; 505(7484): 550-554, 2014 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-24336208
7.
APPLaUD: access for patients and participants to individual level uninterpreted genomic data.
Hum Genomics
; 12(1): 7, 2018 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29454384
8.
Multiplexed analysis of fixed tissue RNA using Ligation in situ Hybridization.
Nucleic Acids Res
; 45(14): e128, 2017 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28854731
9.
Sensitive, multiplex and direct quantification of RNA sequences using a modified RASL assay.
Nucleic Acids Res
; 42(14): 9146-57, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25063296
10.
A genome sequencing program for novel undiagnosed diseases.
Genet Med
; 17(12): 995-1001, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25790160
11.
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Ann Neurol
; 75(4): 542-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700542
12.
Estimating the causal effects of multiple intermittent treatments with application to COVID-19.
ArXiv
; 2023 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34981032
13.
Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.
Clin Transl Sci
; 14(1): 204-213, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32931151
14.
VarCover: Allele Min-Set Cover Software.
J Mol Diagn
; 22(2): 123-131, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31751680
15.
Phased Haplotype Resolution of the SLC6A4 Promoter Using Long-Read Single Molecule Real-Time (SMRT) Sequencing.
Genes (Basel)
; 11(11)2020 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33198140
16.
Members of the public in the USA, UK, Canada and Australia expressing genetic exceptionalism say they are more willing to donate genomic data.
Eur J Hum Genet
; 28(4): 424-434, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31784701
17.
IL-6 induces regionally selective spinal cord injury in patients with the neuroinflammatory disorder transverse myelitis.
J Clin Invest
; 115(10): 2731-41, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16184194
18.
The asthma mobile health study, smartphone data collected using ResearchKit.
Sci Data
; 5: 180096, 2018 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29786695
19.
'Your DNA, Your Say': global survey gathering attitudes toward genomics: design, delivery and methods.
Per Med
; 15(4): 311-318, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29856292
20.
Sequencing the CYP2D6 gene: from variant allele discovery to clinical pharmacogenetic testing.
Pharmacogenomics
; 18(7): 673-685, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28470112