Detalhe da pesquisa
1.
Generation of a Cone Photoreceptor-specific GNGT2 Reporter Line in Human Pluripotent Stem Cells.
Stem Cells
; 40(2): 190-203, 2022 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35293574
2.
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Hum Genet
; 140(4): 593-607, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33095315
3.
APTE: identification of indirect read-out A-DNA promoter elements in genomes.
BMC Bioinformatics
; 15: 288, 2014 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25158845
4.
Xenopus Transgenesis Using the pGateway System.
Methods Mol Biol
; 2633: 97-109, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36853460
5.
Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations.
Front Genet
; 13: 1009430, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36176300
6.
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
Genome Med
; 13(1): 34, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33632302
7.
A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection.
Nat Genet
; 53(2): 205-214, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432184
8.
Genomic programming of IRF4-expressing human Langerhans cells.
Nat Commun
; 11(1): 313, 2020 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949143
9.
661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies.
Front Genet
; 10: 308, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31024622
10.
A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa.
Front Genet
; 10: 248, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30967900
11.
Signaling through the Primary Cilium.
Front Cell Dev Biol
; 6: 8, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29473038
12.
A newly identified Rab-GDI paralogue has a role in neural development in amphibia.
Gene
; 599: 78-86, 2017 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27836664