Detalhe da pesquisa
1.
Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.
Exp Eye Res;
225: 109276, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36209838
2.
SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE.
Retina;
42(8): 1545-1559, 2022 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35344533
3.
A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).
Doc Ophthalmol;
143(1): 61-73, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33512609
4.
CLASSIFYING ABCA4 MUTATION SEVERITY USING AGE-DEPENDENT ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE-DERIVED TOTAL LESION SIZE.
Retina;
41(12): 2578-2588, 2021 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34125082
5.
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
6.
Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population.
Adv Exp Med Biol;
1185: 269-273, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31884623
7.
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy.
Mol Vis;
24: 478-484, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30090012
8.
Genetic analysis of choroideremia families in the Australian population.
Clin Exp Ophthalmol;
43(8): 727-34, 2015 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25912515
9.
Clinical and molecular characterization of females affected by X-linked retinoschisis.
Clin Exp Ophthalmol;
43(7): 643-7, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25894957
10.
Rapid Variant Pathogenicity Analysis by CRISPR Activation of CRB1 Gene Expression in Patient-Derived Fibroblasts.
CRISPR J;
7(2): 100-110, 2024 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38579141
11.
Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant.
Stem Cell Res;
78: 103461, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38852423
12.
Analysis of the Outer Retinal Bands in ABCA4 and PRPH2-Associated Retinopathy using OCT.
Ophthalmol Retina;
8(2): 174-183, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37209970
13.
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Invest Ophthalmol Vis Sci;
65(5): 22, 2024 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38743414
14.
Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank.
Clin Exp Ophthalmol;
41(5): 476-83, 2013 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23078154
15.
Driving with retinitis pigmentosa.
Ophthalmic Genet;
44(4): 352-360, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37013444
16.
Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy.
Ophthalmol Retina;
7(1): 81-91, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35792359
17.
Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers.
Invest Ophthalmol Vis Sci;
64(1): 3, 2023 01 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36607619
18.
Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa.
Mol Vis;
18: 2043-52, 2012.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22876132
19.
Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.
Ophthalmol Sci;
1(1): 100005, 2021 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36246008
20.
Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200.
Stem Cell Res;
51: 102154, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33429167