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In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.
- Published in:
- Genetics Research, 2019, v. 101, p. 1, doi. 10.1017/S0016672319000065
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- Publication type:
- Article
Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells.
- Published in:
- Scientific Reports, 2016, p. 19969, doi. 10.1038/srep19969
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- Publication type:
- Article
Proteomic analysis of the human retina reveals region-specific susceptibilities to metabolic- and oxidative stress-related diseases.
- Published in:
- PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0193250
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- Publication type:
- Article
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa.
- Published in:
- 2019
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- Publication type:
- journal article
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity.
- Published in:
- 2018
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- Publication type:
- journal article
Integrating the analysis of human biopsies using post‐translational modifications proteomics.
- Published in:
- Protein Science: A Publication of the Protein Society, 2024, v. 33, n. 4, p. 1, doi. 10.1002/pro.4979
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- Publication type:
- Article
Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-44031-7
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- Publication type:
- Article
Quantitative progression of retinitis pigmentosa by optical coherence tomography angiography.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-31488-1
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- Publication type:
- Article
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 10, p. 2665, doi. 10.1093/hmg/ddt661
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- Publication type:
- Article
Molecular Characterization of a Rare Case of Bilateral Vitreoretinal T Cell Lymphoma through Vitreous Liquid Biopsy.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 6099, doi. 10.3390/ijms22116099
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- Publication type:
- Article
Acute vitreoretinal trauma and inflammation after traumatic brain injury in mice.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 240, doi. 10.1002/acn3.523
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- Publication type:
- Article
Incomplete Vitreomacular Traction Release Using Intravitreal Ocriplasmin.
- Published in:
- Case Reports in Ophthalmology, 2014, v. 5, n. 3, p. 455, doi. 10.1159/000370024
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- Publication type:
- Article
Calpain-5 gene expression in the mouse eye and brain.
- Published in:
- BMC Research Notes, 2017, v. 10, p. 1, doi. 10.1186/s13104-017-2927-8
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- Publication type:
- Article
Intravitreal Anti-VEGF Injections in Pregnancy: Case Series and Review of Literature.
- Published in:
- 2015
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- Publication type:
- journal article
Liquid biopsy proteomics of uveal melanoma reveals biomarkers associated with metastatic risk.
- Published in:
- 2021
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- Publication type:
- Letter
Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005022
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- Publication type:
- Article
Spinster Homolog 2 (Spns2) Deficiency Causes Early Onset Progressive Hearing Loss.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004688
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- Publication type:
- Article
Disruption of Mouse Cenpj, a Regulator of Centriole Biogenesis, Phenocopies Seckel Syndrome.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 11, p. 1, doi. 10.1371/journal.pgen.1003022
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- Publication type:
- Article
Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 10, p. 1, doi. 10.1371/journal.pgen.1003001
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- Publication type:
- Article
In-Office Vitreous Biopsy With a Vitreous Cutter and Manual Actuation.
- Published in:
- Ophthalmic Surgery, Lasers & Imaging Retina, 2024, v. 55, n. 2, p. 116, doi. 10.3928/23258160-20231206-04
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- Publication type:
- Article
Intraoperative Complications With Vitreous Biopsy for Molecular Proteomics.
- Published in:
- Ophthalmic Surgery, Lasers & Imaging Retina, 2023, v. 54, n. 1, p. 32, doi. 10.3928/23258160-20221214-02
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- Publication type:
- Article
Insights into Retinal Development Using Live Imaging in Female Carriers of Choroideremia.
- Published in:
- 2019
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- Publication type:
- journal article
Optical Coherence Tomography Angiography of RPGR-Associated Retinitis Pigmentosa Suggests Foveal Avascular Zone is a Biomarker for Vision Loss.
- Published in:
- 2019
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- Publication type:
- journal article
Fibrin Glue and Internal Limiting Membrane Abrasion for Optic Disc Pit Maculopathy.
- Published in:
- 2018
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- Publication type:
- journal article
Review of Ocular Manifestations of Joubert Syndrome.
- Published in:
- Genes, 2018, v. 9, n. 12, p. 605, doi. 10.3390/genes9120605
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- Publication type:
- Article
Artificial Intelligence Improves Patient Follow-Up in a Diabetic Retinopathy Screening Program.
- Published in:
- Clinical Ophthalmology, 2023, v. 17, p. 3323, doi. 10.2147/OPTH.S422513
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- Publication type:
- Article
SILENCING OF TUBERIN ENHANCES PHOTORECEPTOR SURVIVAL AND FUNCTION IN A PRECLINICAL MODEL OF RETINITIS PIGMENTOSA (AN AMERICAN OPHTHALMOLOGICAL SOCIETY THESIS).
- Published in:
- Transactions of the American Ophthalmological Society, 2014, v. 112, p. 105
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- Publication type:
- Article
Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 6, p. 1737, doi. 10.1007/s00417-023-06345-1
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- Publication type:
- Article
Fundus autofluorescence and ellipsoid zone (EZ) line width can be an outcome measurement in RHO-associated autosomal dominant retinitis pigmentosa.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 4, p. 725, doi. 10.1007/s00417-018-04234-6
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- Publication type:
- Article
Predicting Systemic Health Features from Retinal Fundus Images Using Transfer-Learning-Based Artificial Intelligence Models.
- Published in:
- Diagnostics (2075-4418), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/diagnostics12071714
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- Publication type:
- Article
Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.
- Published in:
- Clinical Ophthalmology, 2016, v. 10, p. 1187, doi. 10.2147/OPTH.S103324
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- Publication type:
- Article
Comparison of microbiology and visual outcomes of patients undergoing small-gauge and 20-gauge vitrectomy for endophthalmitis.
- Published in:
- Clinical Ophthalmology, 2016, v. 10, p. 167, doi. 10.2147/OPTH.S95906
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- Publication type:
- Article
Long-term outcomes in patients undergoing vitrectomy for retinal detachment due to viral retinitis.
- Published in:
- Clinical Ophthalmology, 2015, v. 9, p. 1307, doi. 10.2147/OPTH.S87644
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- Publication type:
- Article
The metabolic syndrome and severity of diabetic retinopathy.
- Published in:
- Clinical Ophthalmology, 2015, v. 9, p. 757, doi. 10.2147/OPTH.S80355
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- Publication type:
- Article
Scleral buckle hemorrhagic cyst masquerading as an orbital tumor.
- Published in:
- Clinical Ophthalmology, 2015, v. 9, p. 343, doi. 10.2147/OPTH.S76351
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- Publication type:
- Article
Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.
- Published in:
- Clinical Ophthalmology, 2013, v. 7, p. 1339, doi. 10.2147/OPTH.S46450
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- Publication type:
- Article
Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.
- Published in:
- Clinical Ophthalmology, 2012, v. 6, p. 2037, doi. 10.2147/OPTH.S40086
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- Publication type:
- Article
PRICKLE1 Interaction with SYNAPSIN I Reveals a Role in Autism Spectrum Disorders.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0080737
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- Publication type:
- Article
Proteomic Interactions in the Mouse Vitreous-Retina Complex.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0082140
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- Publication type:
- Article
<i>Mcph1</i>-Deficient Mice Reveal a Role for MCPH1 in Otitis Media.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058156
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- Publication type:
- Article
Peptidomimetics Therapeutics for Retinal Disease.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 3, p. 339, doi. 10.3390/biom11030339
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- Publication type:
- Article
Investigation of Cas9 antibodies in the human eye.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-28674-1
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- Publication type:
- Article
Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a Rho<sup>D190N</sup> mutation.
- Published in:
- Cellular & Molecular Life Sciences, 2019, v. 76, n. 18, p. 3657, doi. 10.1007/s00018-019-03090-9
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- Publication type:
- Article
Estrogen Receptor Alpha and Matrix Metalloproteinase 2 Polymorphisms and Age-related Maculopathy in Older Women.
- Published in:
- American Journal of Epidemiology, 2008, v. 167, n. 10, p. 1217
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- Publication type:
- Article
Structure-based phylogeny identifies avoralstat as a TMPRSS2 inhibitor that prevents SARS-CoV-2 infection in mice.
- Published in:
- 2021
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- Publication type:
- journal article
Gene therapy and genome surgery in the retina.
- Published in:
- 2018
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- Publication type:
- journal article
Reprogramming metabolism by targeting sirtuin 6 attenuates retinal degeneration.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.
- Published in:
- Documenta Ophthalmologica, 2020, v. 140, n. 1, p. 67, doi. 10.1007/s10633-019-09719-1
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- Publication type:
- Article
Deferoxamine-induced electronegative ERG responses.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Telegenetics for inherited retinal diseases in the COVID-19 environment.
- Published in:
- 2021
- By:
- Publication type:
- Letter