Detalhe da pesquisa
1.
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease.
Cell
; 184(10): 2633-2648.e19, 2021 05 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864768
2.
The kinesin motor KIF1C is a putative transporter of the exon junction complex in neuronal cells.
RNA
; 2022 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36316088
3.
Candidate-based screening via gene modulation in human neurons and astrocytes implicates FERMT2 in Aß and TAU proteostasis.
Hum Mol Genet
; 28(5): 718-735, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30371777
4.
Sensitized mutagenesis screen in Factor V Leiden mice identifies thrombosis suppressor loci.
Proc Natl Acad Sci U S A
; 114(36): 9659-9664, 2017 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28827327
5.
NMNAT2:HSP90 Complex Mediates Proteostasis in Proteinopathies.
PLoS Biol
; 14(6): e1002472, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27254664
6.
Retraction: 24-Hour Rhythms of DNA Methylation and Their Relation with Rhythms of RNA Expression in the Human Dorsolateral Prefrontal Cortex.
PLoS Genet
; 17(11): e1009895, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34735448
7.
24-hour rhythms of DNA methylation and their relation with rhythms of RNA expression in the human dorsolateral prefrontal cortex.
PLoS Genet
; 10(11): e1004792, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25375876
8.
Genetic epistasis regulates amyloid deposition in resilient aging.
Alzheimers Dement
; 13(10): 1107-1116, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28322202
9.
Long runs of homozygosity are enriched for deleterious variation.
Am J Hum Genet
; 93(1): 90-102, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746547
10.
Methylation profiles in peripheral blood CD4+ lymphocytes versus brain: The relation to Alzheimer's disease pathology.
Alzheimers Dement
; 12(9): 942-951, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27016692
11.
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
Am J Hum Genet
; 91(2): 365-71, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22818856
12.
Unraveling Axonal Transcriptional Landscapes: Insights from iPSC-Derived Cortical Neurons and Implications for Motor Neuron Degeneration.
bioRxiv
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585749
13.
SR-TWAS: Leveraging Multiple Reference Panels to Improve TWAS Power by Ensemble Machine Learning.
medRxiv
; 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425698
14.
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
medRxiv
; 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746462
15.
Differential gene expression analysis based on linear mixed model corrects false positive inflation for studying quantitative traits.
Sci Rep
; 13(1): 16570, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37789141
16.
Dissecting the human leptomeninges at single-cell resolution.
Nat Commun
; 14(1): 7036, 2023 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37923721
17.
Inferring protein expression changes from mRNA in Alzheimer's dementia using deep neural networks.
Nat Commun
; 13(1): 655, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35115553
18.
A cortical immune network map identifies distinct microglial transcriptional programs associated with ß-amyloid and Tau pathologies.
Transl Psychiatry
; 11(1): 50, 2021 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33446646
19.
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.
Elife
; 102021 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34796871
20.
Atlas of RNA editing events affecting protein expression in aged and Alzheimer's disease human brain tissue.
Nat Commun
; 12(1): 7035, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34857756