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Author Details

Katarina Stingl
University Eye Hospital, University of Tubingen
2002
142
22
PMIDPaper TitleJournal TitlePublished Year
37734845Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.J Med Genet2024
36096933Therapy with voretigene neparvovec. How to measure success?Prog Retin Eye Res2023
37741003Alternative donor strategy in unrelated hematopoietic stem cell transplantation - outcome with mismatched donors.Adv Med Sci2023
37834890Serum Fibrinogen and Renal Dysfunction as Important Predictors of Left Atrial Thrombosis in Patients with Atrial Fibrillation.J Clin Med2023
37578425Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa.Invest Ophthalmol Vis Sci2023
37642804An early onset cone dystrophy due to CEP290 mutation: a case report.Doc Ophthalmol2023
35609955Development of retinal atrophy after subretinal gene therapy with voretigene neparvovec.Br J Ophthalmol2023
37424383Impact of A-Scan Rate on Image Quality and Acquisition Time in OCT.Curr Eye Res2023
37342031Photoreceptor-Specific Temporal Contrast Sensitivities in RP1L1-Associated Occult Macular Dystrophy.Invest Ophthalmol Vis Sci2023
37358491The VA-CAL Test Quantifies Improvement of Visual Acuity in Achromatopsia by Means of Short-Wave Cutoff Filter Glasses in Daily Living Conditions.Transl Vis Sci Technol2023
36723966Repeatability of Quantitative Autofluorescence Imaging in a Multicenter Study Involving Patients With Recessive Stargardt Disease 1.Transl Vis Sci Technol2023
36592621Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network - EVICR.net.Ophthalmic Res2023
36479642Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype.Mol Genet Genomic Med2023
36516904Frequency-dependent retinal responsiveness to sinusoidal electrical stimulation in achromatopsia.Exp Eye Res2023
36878196Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey.Ophthalmic Res2023
36846582The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling.Front Cell Dev Biol2023
36769033Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.Int J Mol Sci2023
36764426Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years.Am J Ophthalmol2023
36822437Full-field Scotopic Threshold Improvement after Voretigene Neparvovec-rzyl Treatment Correlates with Chorioretinal Atrophy.Ophthalmology2023
35997788Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.Hum Mol Genet2023
34289237Short term morphological rescue of the fovea after gene therapy with voretigene neparvovec.Acta Ophthalmol2022
37645124The STArgardt Remofuscin Treatment Trial (STARTT): design and baseline characteristics of enrolled Stargardt patients.Open Res Eur2022
35611574Adaptive optics ophthalmoscopy in retinitis pigmentosa (RP): Typical patterns.Acta Ophthalmol2022
35503112[German reference network for rare eye diseases (DRN-EYE). The way to national networking].Ophthalmologie2022
35759666The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacy.Proc Natl Acad Sci U S A2022
35533076Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa.Invest Ophthalmol Vis Sci2022
35420645Quantification of the Dynamic Visual Acuity Space at Real-World Luminances and Contrasts: The VA-CAL Test.Transl Vis Sci Technol2022
35850172Cell-specific electrical stimulation of human retinal neurons assessed by pupillary response dynamics in vivo.Exp Eye Res2022
35743313Novel <i>OPN1LW/OPN1MW</i> Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.Int J Mol Sci2022
35991315Effective splicing restoration of a deep-intronic <i>ABCA4</i> variant in cone photoreceptor precursor cells by CRISPR/<i>Sp</i>Cas9 approaches.Mol Ther Nucleic Acids2022
35886001Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.Genes (Basel)2022
36388727RNA-based therapies in inherited retinal diseases.Ther Adv Ophthalmol2022
35253380Various approaches for accessing the influence of human leukocyte antigens disparity in haploidentical stem cell transplantation.Int J Lab Hematol2022
35312834[Diagnosis of inherited retinal dystrophies. Relevance of molecular genetic testing from the patient's perspective].Ophthalmologie2022
35216386A Novel, Apparently Silent Variant in <i>MFSD8</i> Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.Int J Mol Sci2022
35332618Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.Hum Mutat2022
35328663Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.Int J Mol Sci2022
35262734Evaluation of Local Rod and Cone Function in Stargardt Disease.Invest Ophthalmol Vis Sci2022
35293952The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene.Invest Ophthalmol Vis Sci2022
34327816Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.Acta Ophthalmol2022
32805733Clinical Protocols for the Evaluation of Rod Function.Ophthalmologica2021
33673512Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis Pigmentosa.Int J Mol Sci2021
33673036Influence of Systematic Gaze Patterns in Navigation and Search Tasks with Simulated Retinitis Pigmentosa.Brain Sci2021
33928171Mapping the Human Leukocyte Antigen Diversity among Croatian Regions: Implication in Transplantation.J Immunol Res2021
34884517Oscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions.Int J Mol Sci2021
34638692Characteristics of Retinitis Pigmentosa Associated with <i>ADGRV1</i> and Comparison with <i>USH2A</i> in Patients from a Multicentric Usher Syndrome Study Treatrush.Int J Mol Sci2021
34065499Clinical Characteristics of <i>POC1B</i>-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.Int J Mol Sci2021
34264295CT Assessment of Intraorbital Cable Movement of Electronic Subretinal Prosthesis in Three Different Surgical Approaches.Transl Vis Sci Technol2021
34331386Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).Am J Med Genet A2021
33467000X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i>RPGR</i>.Int J Mol Sci2021
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Release 1.2