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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99747-2
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- Publication type:
- Article
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-122
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- Publication type:
- Article
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.
- Published in:
- 2013
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- Publication type:
- journal article
Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8 -Related Foveal Hypoplasia.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1130, doi. 10.3390/ijms22031130
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- Publication type:
- Article
Longitudinal Study to Assess the Quantitative Use of Fundus Autofluorescence for Monitoring Disease Progression in Choroideremia.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 2, p. 232, doi. 10.3390/jcm10020232
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- Publication type:
- Article
Panel‐based genetic testing for inherited retinal disease screening 176 genes.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1663
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- Publication type:
- Article
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 631, doi. 10.1002/ajmg.c.31822
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- Publication type:
- Article
Unveiling hidden genetic complexity: Coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63805
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- Publication type:
- Article
Delineating the expanding phenotype associated with SCAPER gene mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1665, doi. 10.1002/ajmg.a.61202
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- Publication type:
- Article
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1601, doi. 10.1002/ajmg.a.37004
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- Publication type:
- Article
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
- Published in:
- Nature Genetics, 2015, v. 47, n. 7, p. 757, doi. 10.1038/ng.3319
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- Publication type:
- Article
Cone-driven strong flash electroretinograms in healthy adults: Prevalence of negative waveforms.
- Published in:
- Documenta Ophthalmologica, 2024, v. 148, n. 1, p. 25, doi. 10.1007/s10633-023-09957-4
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- Publication type:
- Article
No strong evidence to date for an association between RIMS1 and retinal dystrophy.
- Published in:
- Documenta Ophthalmologica, 2023, v. 146, n. 1, p. 93, doi. 10.1007/s10633-022-09905-8
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- Publication type:
- Article
Quantitative and Qualitative Features of Spectral-Domain Optical Coherence Tomography Provide Prognostic Indicators for Visual Acuity in Patients With Choroideremia.
- Published in:
- 2017
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- Publication type:
- journal article
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC).
- Published in:
- Scientific Reports, 2016, p. 33792, doi. 10.1038/srep33792
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- Publication type:
- Article
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-023-01277-1
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- Publication type:
- Article
Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032330
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- Publication type:
- Article
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1318, doi. 10.1038/ejhg.2014.283
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- Publication type:
- Article
Clinical utility gene card for: Choroideremia.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.183
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- Publication type:
- Article
Understanding the impact of genetic testing for inherited retinal dystrophy.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1209, doi. 10.1038/ejhg.2013.19
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- Publication type:
- Article
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.251
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- Publication type:
- Article
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
- Published in:
- JAMA Ophthalmology, 2024, v. 142, n. 5, p. 463, doi. 10.1001/jamaophthalmol.2024.0660
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- Publication type:
- Article
Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy.
- Published in:
- 2020
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- Publication type:
- journal article
Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration.
- Published in:
- 2017
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- Publication type:
- journal article
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
- Published in:
- 2017
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- Publication type:
- journal article
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- 2017
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- Publication type:
- journal article
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
- Published in:
- 2016
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- Publication type:
- journal article
Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.
- Published in:
- 2016
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- Publication type:
- journal article
Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).
- Published in:
- 2016
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- Publication type:
- journal article
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
Clinical Heterogeneity in a Family With Mutations in USH2A.
- Published in:
- JAMA Ophthalmology, 2015, v. 133, n. 3, p. 352, doi. 10.1001/jamaophthalmol.2014.5163
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- Publication type:
- Article
Clinical and Molecular Characterization of Enhanced S-Cone Syndrome in Children.
- Published in:
- JAMA Ophthalmology, 2014, v. 132, n. 11, p. 1341, doi. 10.1001/jamaophthalmol.2014.2343
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- Publication type:
- Article
Expansion of Ocular Phenotypic Features Associated With Mutations in ADAMTS18.
- Published in:
- JAMA Ophthalmology, 2014, v. 132, n. 8, p. 996, doi. 10.1001/jamaophthalmol.2014.940
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- Publication type:
- Article
An atypical case of choroidal neovascularization associated with pseudoxanthoma elasticum treated with intravitreal bevacizumab: a case report.
- Published in:
- BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-530
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- Publication type:
- Article
The clinical features of retinal disease due to a dominant mutation in RPE65.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
Benefit of an electronic head‐mounted low vision aid.
- Published in:
- Ophthalmic & Physiological Optics, 2019, v. 39, n. 6, p. 422, doi. 10.1111/opo.12646
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- Publication type:
- Article
Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 4, p. 505, doi. 10.1111/cge.14573
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- Publication type:
- Article
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
- Published in:
- 2019
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- Publication type:
- journal article
Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study).
- Published in:
- Ophthalmic Research, 2020, v. 63, n. 3, p. 234, doi. 10.1159/000505001
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- Publication type:
- Article
A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation.
- Published in:
- 2008
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- Publication type:
- Letter
large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 8, p. 1263, doi. 10.1093/hmg/ddab316
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- Publication type:
- Article
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 11, p. 1882, doi. 10.1093/hmg/ddaa004
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- Publication type:
- Article
Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 11, p. 1865, doi. 10.1093/hmg/ddz028
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- Publication type:
- Article
Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 16, p. 3416, doi. 10.1093/hmg/ddw184
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- Publication type:
- Article
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 23, p. 4756, doi. 10.1093/hmg/ddt329
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- Publication type:
- Article
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB–FKBPL–NOTCH4 region of chromosome 6p21.3.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4138, doi. 10.1093/hmg/dds225
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- Publication type:
- Article
Localised loss of sheen in Optos pseudocolour images in Oguchi disease following prior short wavelength autofluorescence imaging.
- Published in:
- 2024
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- Publication type:
- Abstract
Hyperreflectivity of the outer portion of the outer nuclear layer seen on optical coherence tomography in some cases of NR2E3‐associated retinopathy.
- Published in:
- 2024
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- Publication type:
- Abstract
Discrepancies in central foveal intensity with different autofluorescence modalities in CNGB3‐associated achromatopsia and correlation with integrity of ellipsoid zone on optical coherence tomography.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.15910
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- Publication type:
- Article