Detalhe da pesquisa
1.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Hum Mol Genet
; 32(4): 595-607, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084042
2.
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
J Med Genet
; 60(8): 810-818, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669873
3.
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Genet Med
; 22(4): 745-751, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31848469
4.
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
Am J Hum Genet
; 94(5): 760-9, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24791901
5.
Persistent Placoid Maculopathy Complicated by Cerebral Vasculitis.
J Neuroophthalmol
; 37(3): 273-275, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28809763
6.
Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Genet Med
; 23(10): 2023, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33353976
7.
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.
Ophthalmology
; 128(6): 952-955, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33137351
8.
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
Am J Hum Genet
; 89(6): 782-91, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22137173
9.
Complement component C3 plays a critical role in protecting the aging retina in a murine model of age-related macular degeneration.
Am J Pathol
; 183(2): 480-92, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23747511
10.
Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.
Ophthalmology
; 121(2): 580-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24199935
11.
The effect of the common c.2299delG mutation in USH2A on RNA splicing.
Exp Eye Res
; 122: 9-12, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24607488
12.
Retinal structure, function, and molecular pathologic features in gyrate atrophy.
Ophthalmology
; 119(3): 596-605, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22182799
13.
The value of two-field pattern electroretinogram in routine clinical electrophysiologic practice.
Retina
; 32(3): 588-99, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21878848
14.
North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.
Invest Ophthalmol Vis Sci
; 62(7): 16, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34125159
15.
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Genes (Basel)
; 11(4)2020 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32340307
16.
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Otol Neurotol
; 41(4): 431-437, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32176120
17.
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Eur J Hum Genet
; 28(5): 576-586, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31836858
18.
Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment.
J AAPOS
; 21(3): 251-254, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28528991
19.
Effect of acute hypercapnia during 10-day hypoxic bed rest on posterior eye structures.
J Appl Physiol (1985)
; 120(10): 1241-8, 2016 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27013607
20.
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Eur J Hum Genet
; 23(10): 1318-27, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25649381