Detalhe da pesquisa
1.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Cell
; 169(1): 6-12, 2017 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28340351
2.
The case for standardizing gene nomenclature in vertebrates.
Nature
; 614(7948): E31-E32, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36792746
3.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232675
4.
The Zebrafish Information Network: major gene page and home page updates.
Nucleic Acids Res
; 49(D1): D1058-D1064, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170210
5.
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
PLoS Genet
; 16(10): e1009156, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33104717
6.
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
PLoS Genet
; 16(6): e1008841, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32544203
7.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Am J Hum Genet
; 104(3): 422-438, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773277
8.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
N Engl J Med
; 379(22): 2131-2139, 2018 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304647
9.
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Genet Med
; 23(10): 1889-1900, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113007
10.
The Zebrafish Information Network: new support for non-coding genes, richer Gene Ontology annotations and the Alliance of Genome Resources.
Nucleic Acids Res
; 47(D1): D867-D873, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30407545
11.
The Zebrafish Model Organism Database: new support for human disease models, mutation details, gene expression phenotypes and searching.
Nucleic Acids Res
; 45(D1): D758-D768, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899582
12.
Ubr3, a Novel Modulator of Hh Signaling Affects the Degradation of Costal-2 and Kif7 through Poly-ubiquitination.
PLoS Genet
; 12(5): e1006054, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195754
13.
Usherin defects lead to early-onset retinal dysfunction in zebrafish.
Exp Eye Res
; 173: 148-159, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29777677
14.
Phenoscape: Identifying Candidate Genes for Evolutionary Phenotypes.
Mol Biol Evol
; 33(1): 13-24, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26500251
15.
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Hum Mol Genet
; 24(9): 2594-603, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25616960
16.
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Nucleic Acids Res
; 42(Database issue): D966-74, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24217912
17.
ZFIN, The zebrafish model organism database: Updates and new directions.
Genesis
; 53(8): 498-509, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26097180
18.
Cross-organism analysis using InterMine.
Genesis
; 53(8): 547-60, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26097192
19.
ZFIN, the Zebrafish Model Organism Database: increased support for mutants and transgenics.
Nucleic Acids Res
; 41(Database issue): D854-60, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23074187
20.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Hum Mutat
; 35(10): 1153-62, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044745