Detalhe da pesquisa
1.
Evolutionary origins and interactomes of human, young microproteins and small peptides translated from short open reading frames.
Mol Cell
; 83(6): 994-1011.e18, 2023 03 16.
Artigo
Inglês
| MEDLINE | ID: mdl-36806354
2.
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research.
Nature
; 604(7905): 310-315, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35388217
3.
Ribosome decision graphs for the representation of eukaryotic RNA translation complexity.
Genome Res
; 34(4): 530-538, 2024 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38719470
4.
Transcript expression-aware annotation improves rare variant interpretation.
Nature
; 581(7809): 452-458, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32461655
5.
SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions.
Hum Mol Genet
; 32(10): 1753-1763, 2023 05 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36715146
6.
What Can Ribo-Seq, Immunopeptidomics, and Proteomics Tell Us About the Noncanonical Proteome?
Mol Cell Proteomics
; 22(9): 100631, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37572790
7.
GENCODE: reference annotation for the human and mouse genomes in 2023.
Nucleic Acids Res
; 51(D1): D942-D949, 2023 01 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36420896
8.
GENCODE 2021.
Nucleic Acids Res
; 49(D1): D916-D923, 2021 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33270111
9.
Discovery of high-confidence human protein-coding genes and exons by whole-genome PhyloCSF helps elucidate 118 GWAS loci.
Genome Res
; 29(12): 2073-2087, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31537640
10.
Non-coding regulatory elements: Potential roles in disease and the case of epilepsy.
Neuropathol Appl Neurobiol
; 48(3): e12775, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34820881
11.
SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility.
Acta Neuropathol
; 144(1): 107-127, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35551471
12.
The state of play in higher eukaryote gene annotation.
Nat Rev Genet
; 17(12): 758-772, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27773922
13.
Author Correction: Transcript expression-aware annotation improves rare variant interpretation.
Nature
; 590(7846): E54, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-33536626
14.
Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas.
Haematologica
; 106(10): 2613-2623, 2021 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32703790
15.
Ensembl 2019.
Nucleic Acids Res
; 47(D1): D745-D751, 2019 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30407521
16.
GENCODE reference annotation for the human and mouse genomes.
Nucleic Acids Res
; 47(D1): D766-D773, 2019 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30357393
17.
Functional signatures of evolutionarily young CTCF binding sites.
BMC Biol
; 18(1): 132, 2020 09 23.
Artigo
Inglês
| MEDLINE | ID: mdl-32988407
18.
Evidence for a novel overlapping coding sequence in POLG initiated at a CUG start codon.
BMC Genet
; 21(1): 25, 2020 03 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32138667
19.
Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation.
Nucleic Acids Res
; 46(D1): D221-D228, 2018 01 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29126148
20.
Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy.
Epilepsia
; 59(8): 1557-1566, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30009487