Detalhe da pesquisa
1.
In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice.
Nature
; 589(7843): 608-614, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33408413
2.
Human pancreatic islet microRNAs implicated in diabetes and related traits by large-scale genetic analysis.
Proc Natl Acad Sci U S A
; 120(7): e2206797120, 2023 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757889
3.
Modeling islet enhancers using deep learning identifies candidate causal variants at loci associated with T2D and glycemic traits.
Proc Natl Acad Sci U S A
; 120(35): e2206612120, 2023 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37603758
4.
Genetic effects on liver chromatin accessibility identify disease regulatory variants.
Am J Hum Genet
; 108(7): 1169-1189, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34038741
5.
Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences.
PLoS Genet
; 16(9): e1009019, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32915782
6.
Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits.
Am J Hum Genet
; 105(4): 773-787, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564431
7.
ACE2 expression in adipose tissue is associated with cardio-metabolic risk factors and cell type composition-implications for COVID-19.
Int J Obes (Lond)
; 46(8): 1478-1486, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35589964
8.
Integrative analysis of gene expression, DNA methylation, physiological traits, and genetic variation in human skeletal muscle.
Proc Natl Acad Sci U S A
; 116(22): 10883-10888, 2019 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31076557
9.
Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution.
Hum Mol Genet
; 28(24): 4161-4172, 2019 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31691812
10.
Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study.
Hum Mol Genet
; 27(9): 1664-1674, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29481666
11.
Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits.
Am J Hum Genet
; 100(3): 428-443, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28257690
12.
Genetic regulatory signatures underlying islet gene expression and type 2 diabetes.
Proc Natl Acad Sci U S A
; 114(9): 2301-2306, 2017 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28193859
13.
Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.
PLoS Genet
; 13(10): e1007079, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29084231
14.
Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.
PLoS Genet
; 10(1): e1004147, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24497850
15.
Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites.
Hum Mutat
; 37(1): 52-64, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26411452
16.
Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants.
Proc Natl Acad Sci U S A
; 110(44): 17921-6, 2013 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-24127591
17.
Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.
PLoS Genet
; 9(3): e1003379, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23555291
18.
Use of microarray hybrid capture and next-generation sequencing to identify the anatomy of a transgene.
Nucleic Acids Res
; 41(6): e70, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23314155
19.
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.
Hum Mutat
; 35(11): 1342-53, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25168418
20.
Generation of Human Isogenic Induced Pluripotent Stem Cell Lines with CRISPR Prime Editing.
CRISPR J
; 7(1): 53-67, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38353623