Detalhe da pesquisa
1.
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
J Lipid Res
; 63(6): 100209, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460704
2.
Atrial Fibrillation Associated Genetic Variants and Left Atrial Histology: Evaluation for Molecular Sub-Phenotypes.
J Cardiovasc Electrophysiol
; 27(11): 1264-1270, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27574037
3.
Association of common genetic variation in the protein C pathway genes with clinical outcomes in acute respiratory distress syndrome.
Crit Care
; 20(1): 151, 2016 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27215212
4.
Utilization of coronary computed tomography angiography for exclusion of coronary artery disease in ED patients with low- to intermediate-risk chest pain: a 1-year experience.
Am J Emerg Med
; 30(9): 1706-11, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22424998
5.
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Hum Mol Genet
; 18(3): 463-71, 2009 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18996919
6.
Association analysis identifies ZNF750 regulatory variants in psoriasis.
BMC Med Genet
; 12: 167, 2011 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22185198
7.
Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations.
Cerebrovasc Dis
; 31(4): 338-45, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21212665
8.
Towards a reference genome that captures global genetic diversity.
Nat Commun
; 11(1): 5482, 2020 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33127893
9.
Common variants in interleukin-1-Beta gene are associated with intracranial hemorrhage and susceptibility to brain arteriovenous malformation.
Cerebrovasc Dis
; 27(2): 176-82, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19092239
10.
Natural variation in four human collagen genes across an ethnically diverse population.
Genomics
; 91(4): 307-14, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18272325
11.
Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.
Mol Genet Genomic Med
; 7(12): e1007, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31617323
12.
Genome maps across 26 human populations reveal population-specific patterns of structural variation.
Nat Commun
; 10(1): 1025, 2019 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30833565
13.
OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps.
Genome Biol
; 18(1): 230, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29195502
14.
Bundle Branch Re-Entrant Ventricular Tachycardia: Novel Genetic Mechanisms in a Life-Threatening Arrhythmia.
JACC Clin Electrophysiol
; 3(3): 276-288, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29759522
15.
Impact of bronchopulmonary dysplasia on brain and retina.
Biol Open
; 5(4): 475-83, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26988760
16.
Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays.
Genetics
; 202(1): 351-62, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26510793
17.
The bifunctional µ opioid agonist/antioxidant [Dmt(1)]DALDA is a superior analgesic in an animal model of complex regional pain syndrome-type i.
ACS Chem Neurosci
; 6(11): 1789-93, 2015 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26352668
18.
Targeted deep sequencing reveals no definitive evidence for somatic mosaicism in atrial fibrillation.
Circ Cardiovasc Genet
; 8(1): 50-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25406240
19.
An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish.
Elife
; 4: e09406, 2015 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26473617
20.
Prioritizing causal disease genes using unbiased genomic features.
Genome Biol
; 15(12): 534, 2014 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25633252