Detalhe da pesquisa
1.
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hum Mutat
; 43(12): 2234-2250, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36259723
2.
In ANCA-associated vasculitis, avacopan was superior to prednisone taper for sustained remission.
Ann Intern Med
; 174(7): JC79, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34224265
3.
Benchmarking deep learning splice prediction tools using functional splice assays.
Hum Mutat
; 42(7): 799-810, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942434
4.
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Hum Mutat
; 42(12): 1521-1547, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34411390
5.
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
6.
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
7.
No Association Linking Short-Term Proton Pump Inhibitor Use to Dementia: Systematic Review and Meta-analysis of Observational Studies.
Am J Gastroenterol
; 115(5): 671-678, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31895707
8.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genet Med
; 22(7): 1235-1246, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32307445
9.
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
10.
ABCA4-Associated Stargardt Disease.
Klin Monbl Augenheilkd
; 237(3): 267-274, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32016942
11.
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.
Hum Mutat
; 40(12): 2365-2376, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31397521
12.
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
Hum Mutat
; 40(10): 1749-1759, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31212395
13.
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
14.
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
15.
SHROOM3-FYN Interaction Regulates Nephrin Phosphorylation and Affects Albuminuria in Allografts.
J Am Soc Nephrol
; 29(11): 2641-2657, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30341149
16.
Carbetocin at elective Cesarean delivery: a sequential allocation trial to determine the minimum effective dose.
Can J Anaesth
; 61(3): 242-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24281981
17.
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
JAMA Ophthalmol
; 142(5): 463-471, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38602673
18.
Evaluation of gustatory function in HIV-infected subjects with and without HAART.
J Oral Pathol Med
; 42(3): 216-21, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23013048
19.
ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage.
Invest Ophthalmol Vis Sci
; 64(12): 33, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37728905
20.
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
HGG Adv
; 4(4): 100237, 2023 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37705246