Detalhe da pesquisa
1.
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.
Mol Ther
; 32(3): 837-851, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243599
2.
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
Hum Mol Genet
; 31(3): 455-470, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508573
3.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653363
4.
Comparative Clustering (CompaCt) of eukaryote complexomes identifies novel interactions and sheds light on protein complex evolution.
PLoS Comput Biol
; 19(8): e1011090, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549177
5.
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
J Inherit Metab Dis
; 46(3): 371-390, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37020324
6.
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.
Proc Natl Acad Sci U S A
; 117(18): 9922-9931, 2020 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32312818
7.
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
Int J Mol Sci
; 24(9)2023 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37175952
8.
Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.
Mol Genet Metab
; 135(4): 311-319, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227579
9.
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
J Inherit Metab Dis
; 45(4): 663-681, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506430
10.
A look into retinal organoids: methods, analytical techniques, and applications.
Cell Mol Life Sci
; 78(19-20): 6505-6532, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34420069
11.
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.
Am J Hum Genet
; 102(4): 517-527, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29526278
12.
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.
Genome Res
; 28(1): 100-110, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29162642
13.
Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4.
Int J Mol Sci
; 22(9)2021 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33924840
14.
An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature.
Hum Mol Genet
; 27(20): 3519-3527, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29982478
15.
In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.
Int J Mol Sci
; 21(7)2020 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32225107
16.
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Genet Med
; 21(8): 1761-1771, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670881
17.
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genet Med
; 21(8): 1751-1760, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30643219
18.
RNA-Based Therapeutic Strategies for Inherited Retinal Dystrophies.
Adv Exp Med Biol
; 1185: 71-77, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884591
19.
In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.
Hum Mol Genet
; 25(12): 2552-2563, 2016 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106101
20.
Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.
Ophthalmology
; 125(9): 1433-1443, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706360