Detalhe da pesquisa
1.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Am J Hum Genet
; 102(3): 494-504, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478781
2.
BPG: Seamless, automated and interactive visualization of scientific data.
BMC Bioinformatics
; 20(1): 42, 2019 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30665349
3.
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Am J Med Genet A
; 179(6): 966-977, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30920161
4.
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
PLoS Genet
; 12(4): e1005963, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058611
5.
Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection.
Nat Methods
; 12(7): 623-30, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25984700
6.
Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
Genet Med
; 20(1): 159-163, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640241
7.
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data.
PLoS Genet
; 11(10): e1005496, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26448358
8.
Sports genetics moving forward: lessons learned from medical research.
Physiol Genomics
; 48(3): 175-82, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26757801
9.
Integrated omic analysis of oropharyngeal carcinomas reveals human papillomavirus (HPV)-dependent regulation of the activator protein 1 (AP-1) pathway.
Mol Cell Proteomics
; 13(12): 3572-84, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25271301
10.
Systematic evaluation of medium-throughput mRNA abundance platforms.
RNA
; 19(1): 51-62, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23169800
11.
Novel PRKD gene rearrangements and variant fusions in cribriform adenocarcinoma of salivary gland origin.
Genes Chromosomes Cancer
; 53(10): 845-56, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24942367
12.
NanoStringNorm: an extensible R package for the pre-processing of NanoString mRNA and miRNA data.
Bioinformatics
; 28(11): 1546-8, 2012 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22513995
13.
Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.
J Urol
; 188(2): 514-20, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22704111
14.
Were genome-wide linkage studies a waste of time? Exploiting candidate regions within genome-wide association studies.
Genet Epidemiol
; 34(2): 107-18, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19626703
15.
BR-squared: a practical solution to the winner's curse in genome-wide scans.
Hum Genet
; 129(5): 545-52, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21246217
16.
Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin.
Arterioscler Thromb Vasc Biol
; 29(11): 1958-67, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19729612
17.
The effect of digital physical activity interventions on daily step count: a randomised controlled crossover substudy of the MyHeart Counts Cardiovascular Health Study.
Lancet Digit Health
; 1(7): e344-e352, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33323209
18.
Physical activity, sleep and cardiovascular health data for 50,000 individuals from the MyHeart Counts Study.
Sci Data
; 6(1): 24, 2019 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30975992
19.
Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.
Nat Commun
; 10(1): 2760, 2019 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235787
20.
Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank.
Sci Rep
; 8(1): 6451, 2018 04 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691431