Detalhe da pesquisa
1.
Spliceator: multi-species splice site prediction using convolutional neural networks.
BMC Bioinformatics
; 22(1): 561, 2021 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34814826
2.
Circular code motifs in the ribosome: a missing link in the evolution of translation?
RNA
; 25(12): 1714-1730, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31506380
3.
OrthoInspector 3.0: open portal for comparative genomics.
Nucleic Acids Res
; 47(D1): D411-D418, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30380106
4.
Understanding the causes of errors in eukaryotic protein-coding gene prediction: a case study of primate proteomes.
BMC Bioinformatics
; 21(1): 513, 2020 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33172385
5.
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Hum Mutat
; 41(1): 240-254, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31549751
6.
A benchmark study of ab initio gene prediction methods in diverse eukaryotic organisms.
BMC Genomics
; 21(1): 293, 2020 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32272892
7.
Characterization of accessory genes in coronavirus genomes.
Virol J
; 17(1): 131, 2020 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32854725
8.
PROBE: analysis and visualization of protein block-level evolution.
Bioinformatics
; 34(19): 3390-3392, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29741582
9.
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Clin Genet
; 95(3): 384-397, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30614526
10.
Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling.
Mol Biol Evol
; 34(8): 2016-2034, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28460059
11.
MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease-causing mutations in human mitochondrial aminoacyl-tRNA synthetases.
Hum Mutat
; 38(10): 1316-1324, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28608363
12.
Identification and Characterization of MicroRNA Differentially Expressed in Macrophages Exposed to Porphyromonas gingivalis Infection.
Infect Immun
; 85(3)2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28069815
13.
MyGeneFriends: A Social Network Linking Genes, Genetic Diseases, and Researchers.
J Med Internet Res
; 19(6): e212, 2017 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28623182
14.
TBP2 is essential for germ cell development by regulating transcription and chromatin condensation in the oocyte.
Genes Dev
; 23(18): 2210-23, 2009 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19759265
15.
LEON-BIS: multiple alignment evaluation of sequence neighbours using a Bayesian inference system.
BMC Bioinformatics
; 17(1): 271, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27387560
16.
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
Hum Mol Genet
; 23(2): 491-501, 2014 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24026677
17.
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 92(1): 67-75, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23246293
18.
OrthoInspector 2.0: Software and database updates.
Bioinformatics
; 31(3): 447-8, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25273105
19.
Tex19 and Sectm1 concordant molecular phylogenies support co-evolution of both eutherian-specific genes.
BMC Evol Biol
; 15: 222, 2015 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26459560
20.
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 90(2): 321-30, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22325361