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.
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
3.
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
4.
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
5.
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
6.
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