Detalhe da pesquisa
1.
Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies.
Am J Hum Genet
; 109(9): 1638-1652, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055212
2.
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis.
Hepatology
; 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38536042
3.
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.
Am J Respir Crit Care Med
; 207(10): 1324-1333, 2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36921087
4.
Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.
Am J Respir Crit Care Med
; 197(1): 79-93, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28853905
5.
Genomic Characterization of Metformin Hepatic Response.
PLoS Genet
; 12(11): e1006449, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27902686
6.
Polymorphisms associated with expression of BPIFA1/BPIFB1 and lung disease severity in cystic fibrosis.
Am J Respir Cell Mol Biol
; 53(5): 607-14, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25574903
7.
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
PLoS Genet
; 6(9): e1001130, 2010 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20885792
8.
Mitochondrial haplogroup X is associated with successful aging in the Amish.
Hum Genet
; 131(2): 201-8, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21750925
9.
The ARMS2 A69S variant and bilateral advanced age-related macular degeneration.
Retina
; 32(8): 1486-91, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22481475
10.
A Population-Based Human In Vitro Approach to Quantify Inter-Individual Variability in Responses to Chemical Mixtures.
Toxics
; 10(8)2022 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36006120
11.
A resource for integrated genomic analysis of the human liver.
Sci Rep
; 12(1): 15151, 2022 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36071064
12.
Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients.
HGG Adv
; 3(2): 100090, 2022 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35128485
13.
Successful aging shows linkage to chromosomes 6, 7, and 14 in the Amish.
Ann Hum Genet
; 75(4): 516-28, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21668908
14.
A genome-wide linkage screen in the Amish with Parkinson disease points to chromosome 6.
Ann Hum Genet
; 75(3): 351-8, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21488853
15.
Analysis of single nucleotide polymorphisms in the NOS2A gene and interaction with smoking in age-related macular degeneration.
Ann Hum Genet
; 74(3): 195-201, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20374233
16.
A New Liver Expression Quantitative Trait Locus Map From 1,183 Individuals Provides Evidence for Novel Expression Quantitative Trait Loci of Drug Response, Metabolic, and Sex-Biased Phenotypes.
Clin Pharmacol Ther
; 107(6): 1383-1393, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31868224
17.
A Common Allele in FGF21 Associated with Sugar Intake Is Associated with Body Shape, Lower Total Body-Fat Percentage, and Higher Blood Pressure.
Cell Rep
; 23(2): 327-336, 2018 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29641994
18.
Editor's Highlight: Comparative Dose-Response Analysis of Liver and Kidney Transcriptomic Effects of Trichloroethylene and Tetrachloroethylene in B6C3F1 Mouse.
Toxicol Sci
; 160(1): 95-110, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973375
19.
Corrigendum: Novel variation at chr11p13 associated with cystic fibrosis lung disease severity.
Hum Genome Var
; 4: 17016, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28674633
20.
Novel variation at chr11p13 associated with cystic fibrosis lung disease severity.
Hum Genome Var
; 3: 16020, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27408752