Detalhe da pesquisa
1.
Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases.
Brain
; 144(4): 1082-1088, 2021 05 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33889947
2.
Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients.
Hum Mol Genet
; 26(17): 3421-3431, 2017 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28637276
3.
Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype.
Acta Neuropathol
; 136(3): 389-404, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29926172
4.
Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.
Acta Neuropathol
; 134(5): 715-728, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28808785
5.
A novel approach for multi-SNP GWAS and its application in Alzheimer's disease.
BMC Bioinformatics
; 17 Suppl 7: 268, 2016 Jul 25.
Artigo
Inglês
| MEDLINE | ID: mdl-27453991
6.
Evaluating the necessity of PCR duplicate removal from next-generation sequencing data and a comparison of approaches.
BMC Bioinformatics
; 17 Suppl 7: 239, 2016 Jul 25.
Artigo
Inglês
| MEDLINE | ID: mdl-27454357
7.
Genome-wide association study of prolactin levels in blood plasma and cerebrospinal fluid.
BMC Genomics
; 17 Suppl 3: 436, 2016 06 29.
Artigo
Inglês
| MEDLINE | ID: mdl-27357110
8.
Presenilin E318G variant and Alzheimer's disease risk: the Cache County study.
BMC Genomics
; 17 Suppl 3: 438, 2016 06 29.
Artigo
Inglês
| MEDLINE | ID: mdl-27357204
9.
Variants in ACPP are associated with cerebrospinal fluid Prostatic Acid Phosphatase levels.
BMC Genomics
; 17 Suppl 3: 439, 2016 06 29.
Artigo
Inglês
| MEDLINE | ID: mdl-27357282
10.
Variants in CCL16 are associated with blood plasma and cerebrospinal fluid CCL16 protein levels.
BMC Genomics
; 17 Suppl 3: 437, 2016 06 29.
Artigo
Inglês
| MEDLINE | ID: mdl-27357396
11.
Interaction between variants in CLU and MS4A4E modulates Alzheimer's disease risk.
Alzheimers Dement
; 12(2): 121-129, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26449541
12.
Variant Tool Chest: an improved tool to analyze and manipulate variant call format (VCF) files.
BMC Bioinformatics
; 15 Suppl 7: S12, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25080132
13.
Surveying the landscape of RNA isoform diversity and expression across 9 GTEx tissues using long-read sequencing data.
bioRxiv
; 2024 Feb 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38405825
14.
Mapping medically relevant RNA isoform diversity in the aged human frontal cortex with deep long-read RNA-seq.
Nat Biotechnol
; 2024 May 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38778214
15.
PAM50 proliferation score as a predictor of weekly paclitaxel benefit in breast cancer.
Breast Cancer Res Treat
; 138(2): 457-66, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23423445
16.
TRIM29 functions as a tumor suppressor in nontumorigenic breast cells and invasive ER+ breast cancer.
Am J Pathol
; 180(2): 839-47, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22138580
17.
Using deep long-read RNAseq in Alzheimer's disease brain to assess medical relevance of RNA isoform diversity.
bioRxiv
; 2023 Dec 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37609156
18.
Agreement in risk prediction between the 21-gene recurrence score assay (Oncotype DX®) and the PAM50 breast cancer intrinsic Classifier™ in early-stage estrogen receptor-positive breast cancer.
Oncologist
; 17(4): 492-8, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22418568
19.
Transcriptional response to VZV infection is modulated by RNA polymerase III in lung epithelial cell lines.
Front Cell Infect Microbiol
; 12: 943587, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35959363
20.
Web-Based Protein Interactions Calculator Identifies Likely Proteome Coevolution with Alzheimer's Disease-Associated Proteins.
Genes (Basel)
; 13(8)2022 07 27.
Artigo
Inglês
| MEDLINE | ID: mdl-36011253