Detalhe da pesquisa
1.
DNA methylation signatures reveal that distinct combinations of transcription factors specify human immune cell epigenetic identity.
Immunity
; 54(11): 2465-2480.e5, 2021 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34706222
2.
DNA methylation signatures reveal that distinct combinations of transcription factors specify human immune cell epigenetic identity.
Immunity
; 55(6): 1135, 2022 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35704994
3.
Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24.
PLoS Genet
; 10(2): e1003991, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24516392
4.
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
Neurodegener Dis
; 17(4-5): 208-212, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28558379
5.
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
Am J Hum Genet
; 92(2): 245-51, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332917
6.
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
Mov Disord
; 30(2): 262-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25545641
7.
Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies.
Nucleic Acids Res
; 41(7): e88, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23435227
8.
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.
Hum Mol Genet
; 21(18): 4094-103, 2012 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22723018
9.
A paradoxical relationship between family history, onset age, and genetic risk in Parkinson's disease.
Mov Disord
; 34(2): 298-299, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30484896
10.
Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).
PLoS Genet
; 7(6): e1002108, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21738479
11.
Multiple loci are associated with white blood cell phenotypes.
PLoS Genet
; 7(6): e1002113, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21738480
12.
Distinct DNA methylation changes highly correlated with chronological age in the human brain.
Hum Mol Genet
; 20(6): 1164-72, 2011 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21216877
13.
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
Brain
; 135(Pt 9): 2875-82, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22740598
14.
Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.
Proc Natl Acad Sci U S A
; 107(27): 12335-8, 2010 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-20566859
15.
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain.
PLoS Genet
; 6(5): e1000952, 2010 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20485568
16.
Epigenetic signature of human immune aging in the GESTALT study.
Elife
; 122023 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37589453
17.
NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations.
medRxiv
; 2023 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37986980
18.
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.
Neurobiol Dis
; 47(1): 20-8, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22433082
19.
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
Hum Mol Genet
; 18(8): 1524-32, 2009 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19193627
20.
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
PLoS Genet
; 4(5): e1000072, 2008 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-18464913