Detalhe da pesquisa
1.
IntroVerse: a comprehensive database of introns across human tissues.
Nucleic Acids Res
; 51(D1): D167-D178, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399497
2.
The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease.
Brain
; 146(12): 4974-4987, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37522749
3.
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Brain
; 146(7): 2869-2884, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36624280
4.
ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2.
Bioinformatics
; 38(15): 3844-3846, 2022 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751589
5.
Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights.
Bioinformatics
; 37(18): 2905-2911, 2021 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33734320
6.
ensemblQueryR: fast, flexible and high-throughput querying of Ensembl LD API endpoints in R.
GigaByte
; 2023: 1-10, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37732134
7.
aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3.
GigaByte
; 2023: gigabyte87, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37637773
8.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
medRxiv
; 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196618
9.
Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes.
Nat Commun
; 13(1): 2270, 2022 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35477703
10.
Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease.
Commun Biol
; 4(1): 1262, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34737414
11.
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Nat Commun
; 12(1): 2076, 2021 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824317
12.
CoExp: A Web Tool for the Exploitation of Co-expression Networks.
Front Genet
; 12: 630187, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33719340
13.
An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein.
Cell Rep
; 35(10): 109189, 2021 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34107263
14.
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders.
Sci Adv
; 6(24)2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917675