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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
Retinal GABAergic Alterations in Adults with Autism Spectrum Disorder.
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- Journal of Neuroscience, 2024, v. 44, n. 14, p. 1, doi. 10.1523/JNEUROSCI.1218-23.2024
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- Publication type:
- Article
Unusual OCT findings in a patient with CABP4-associated cone–rod synaptic disorder.
- Published in:
- 2024
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- Publication type:
- Case Study
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
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
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
Changes in visual acuity and quality of life following lens surgery in Alport syndrome.
- Published in:
- 2024
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- Publication type:
- Abstract
New applications and analyses of ERGs.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16522
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- Publication type:
- Article
Genetic Counseling For Predictive Retinal Imaging.
- Published in:
- 2024
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- Publication type:
- Opinion
The diagnostic accuracy of photopic negative responses evoked by broadband and chromatic stimuli in a clinically heterogeneous population.
- Published in:
- Documenta Ophthalmologica, 2023, v. 147, n. 3, p. 165, doi. 10.1007/s10633-023-09956-5
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- Publication type:
- Article
Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.
- Published in:
- PLoS Genetics, 2023, v. 18, n. 2, p. 1, doi. 10.1371/journal.pgen.1010587
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- Publication type:
- Article
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 595, doi. 10.1093/hmg/ddac227
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- Publication type:
- Article
GWAS on retinal vasculometry phenotypes.
- Published in:
- PLoS Genetics, 2023, v. 18, n. 2, p. 1, doi. 10.1371/journal.pgen.1010583
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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
Insights into myopia gleaned from retinal electrophysiology.
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- 2022
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- Publication type:
- Abstract
Electronegative ERG or pseudo-negative ERG?
- Published in:
- Documenta Ophthalmologica, 2022, v. 145, n. 3, p. 283, doi. 10.1007/s10633-022-09881-z
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- Publication type:
- Article
Photoreceptors in health and monogenic disease: from half a billion years ago to the future.
- Published in:
- Journal of Physiology, 2022, v. 600, n. 21, p. 4583, doi. 10.1113/JP283652
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- Publication type:
- Article
Human retinal dark adaptation tracked in vivo with the electroretinogram: insights into processes underlying recovery of cone‐ and rod‐mediated vision.
- Published in:
- Journal of Physiology, 2022, v. 600, n. 21, p. 4603, doi. 10.1113/JP283105
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- Publication type:
- Article
Association analyses of rare variants identify two genes associated with refractive error.
- Published in:
- PLoS ONE, 2022, v. 17, n. 9, p. 1, doi. 10.1371/journal.pone.0272379
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- Publication type:
- Article
genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 17, p. 3012, doi. 10.1093/hmg/ddac048
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- Publication type:
- Article
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
Measurement of electroretinogram responses in OPA1‐associated autosomal dominant optic atrophy using a handheld device.
- Published in:
- 2022
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- Publication type:
- Abstract
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
Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1409, doi. 10.1002/jimd.12438
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- Publication type:
- Article
Photophobia in migraine: A symptom cluster?
- Published in:
- 2021
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- Publication type:
- journal article
CNGB1‐related rod‐cone dystrophy: A mutation review and update.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 641, doi. 10.1002/humu.24205
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- Publication type:
- Article
Retinal Ganglion Cells—Diversity of Cell Types and Clinical Relevance.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.661938
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- Publication type:
- Article
Exploratory Study of the Association between the Severity of Idiopathic Intracranial Hypertension and Electroretinogram Photopic Negative Response Amplitude Obtained Using a Handheld Device.
- Published in:
- Life (2075-1729), 2021, v. 11, n. 5, p. 437, doi. 10.3390/life11050437
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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
ISCEV extended protocol for derivation and analysis of the strong flash rod-isolated ERG a-wave.
- Published in:
- Documenta Ophthalmologica, 2020, v. 140, n. 1, p. 5, doi. 10.1007/s10633-019-09740-4
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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
Comparison of peak times of photopic flicker electroretinogram responses recorded using conventional and portable systems in Birdshot chorioretinopathy.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5441
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- Publication type:
- Article
Confirmation That Angioid Streaks Are Not Common in Ehlers-Danlos Syndrome.
- Published in:
- 2019
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- Publication type:
- letter
Repeatability of the macular pigment spatial profile: A comparison of objective versus subjective classification.
- Published in:
- Acta Ophthalmologica (1755375X), 2018, v. 96, n. 7, p. e797, doi. 10.1111/aos.13725
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- Publication type:
- Article
Effect of varying skin surface electrode position on electroretinogram responses recorded using a handheld stimulating and recording system.
- Published in:
- Documenta Ophthalmologica, 2018, v. 137, n. 2, p. 79, doi. 10.1007/s10633-018-9652-z
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- Publication type:
- Article
A twin study of cilioretinal arteries, tilted discs and situs inversus.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2018, v. 256, n. 2, p. 333, doi. 10.1007/s00417-017-3859-7
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- Publication type:
- Article
Phenotypic and genotypic correlation between myopia and intelligence.
- Published in:
- Scientific Reports, 2017, p. 45977, doi. 10.1038/srep45977
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- Publication type:
- Article
Pupil area and photopigment spectral sensitivity are relevant to study of migraine photophobia.
- Published in:
- 2017
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- Publication type:
- letter
Risk factors for visual impairment in patients with sickle cell disease in London.
- Published in:
- European Journal of Ophthalmology, 2016, v. 26, n. 5, p. 431, doi. 10.5301/ejo.5000767
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- Publication type:
- Article
Exploring Sex and Laterality Imbalances in Patients Undergoing Laser Retinopexy.
- Published in:
- 2015
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- Publication type:
- journal article
Prevalence of refractive error in Europe: the European Eye Epidemiology (E) Consortium.
- Published in:
- European Journal of Epidemiology, 2015, v. 30, n. 4, p. 305, doi. 10.1007/s10654-015-0010-0
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- Publication type:
- Article
Common Mechanisms Underlying Refractive Error Identified in Functional Analysis of Gene Lists From Genome-Wide Association Study Results in 2 European British Cohorts.
- Published in:
- JAMA Ophthalmology, 2014, v. 132, n. 1, p. 50, doi. 10.1001/jamaophthalmol.2013.6022
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- Publication type:
- Article
Macular spectral domain optical coherence tomography findings in Tanzanian endemic optic neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3418, doi. 10.1093/brain/awt221
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- Publication type:
- Article
Slowed recovery of human photopic ERG a-wave amplitude following intense bleaches: a slowing of cone pigment regeneration?
- Published in:
- Documenta Ophthalmologica, 2012, v. 125, n. 2, p. 137, doi. 10.1007/s10633-012-9344-z
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- Publication type:
- Article
Modelling the initial phase of the human rod photoreceptor response to the onset of steady illumination.
- Published in:
- Documenta Ophthalmologica, 2012, v. 124, n. 2, p. 125, doi. 10.1007/s10633-012-9316-3
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- Publication type:
- Article