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Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0205380
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- Publication type:
- Article
Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype.
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- Cellular & Molecular Life Sciences, 2015, v. 72, n. 20, p. 3953, doi. 10.1007/s00018-015-1913-3
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- Publication type:
- Article
Variants in ASB10 are associated with open-angle glaucoma.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1336, doi. 10.1093/hmg/ddr572
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- Publication type:
- Article
Common genetic variants associated with open-angle glaucoma.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 12, p. 2464, doi. 10.1093/hmg/ddr120
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- Publication type:
- Article
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease.
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- Science Translational Medicine, 2020, v. 12, n. 560, p. 1, doi. 10.1126/scitranslmed.aau3960
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- Publication type:
- Article
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 99, doi. 10.1038/ejhg.2013.72
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- Publication type:
- Article
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
- Published in:
- PLoS ONE, 2021, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0253987
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- Publication type:
- Article
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8915, doi. 10.3390/ijms24108915
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- Publication type:
- Article
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2709, doi. 10.3390/ijms24032709
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- Publication type:
- Article
Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3240, doi. 10.3390/ijms23063240
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- Publication type:
- Article
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2271, doi. 10.3390/ijms23042271
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- Publication type:
- Article
Clinical Characteristics of POC1B -Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5396, doi. 10.3390/ijms22105396
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- Publication type:
- Article
Clinical Phenotype of PDE6B -Associated Retinitis Pigmentosa.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2374, doi. 10.3390/ijms22052374
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- Publication type:
- Article
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2089, doi. 10.3390/ijms22042089
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- Publication type:
- Article
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 850, doi. 10.3390/ijms22020850
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- Publication type:
- Article
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.
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- Genes, 2022, v. 13, n. 7, p. 1218, doi. 10.3390/genes13071218
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- Publication type:
- Article
An Assessment of GUCA1C Variants in Primary Congenital Glaucoma.
- Published in:
- 2021
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- Publication type:
- Letter
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 445, doi. 10.1038/ejhg.2010.217
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- Publication type:
- Article
Clinical utility gene card for: Axenfeld-Rieger syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.163
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- Publication type:
- Article
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 186, doi. 10.1038/ejhg.2010.144
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- Publication type:
- Article
Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the ALMS1 gene.
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- Acta Ophthalmologica (1755375X), 2018, v. 96, n. 4, p. e445, doi. 10.1111/aos.13612
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- Publication type:
- Article
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 3, p. e250, doi. 10.1111/aos.13293
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- Publication type:
- Article
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
- Published in:
- Acta Ophthalmologica (1755375X), 2015, v. 93, n. 4, p. e281, doi. 10.1111/aos.12573
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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
A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.
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- Molecular Vision, 2021, v. 27, p. 588
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- Publication type:
- Article
Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 5, p. 1, doi. 10.1371/journal.pgen.1002611
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- Publication type:
- Article
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. 426, doi. 10.1111/cge.13673
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- Publication type:
- Article
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01166-z
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- Publication type:
- Article
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0795-x
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- Publication type:
- Article
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.
- Published in:
- 2016
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- Publication type:
- journal article
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
- Published in:
- 2020
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- Publication type:
- journal article
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
- Published in:
- Journal of Clinical Investigation, 2020, v. 130, n. 1, p. 143, doi. 10.1172/JCI128513
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- Publication type:
- Article
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
- Published in:
- 2018
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- Publication type:
- journal article
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.
- Published in:
- 2020
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- Publication type:
- journal article
Genetic Heritability of Pigmentary Glaucoma and Associations With Other Eye Phenotypes.
- Published in:
- 2020
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- Publication type:
- journal article
Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-29452-9
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- Publication type:
- Article
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1514, doi. 10.1002/humu.24064
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- Publication type:
- Article
Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 255, doi. 10.1002/humu.23920
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- Publication type:
- Article
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1366, doi. 10.1002/humu.23606
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- Publication type:
- Article
An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 39, doi. 10.1002/humu.22716
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- Publication type:
- Article
Digenic Inheritance in Axenfeld Rieger Syndrome.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. iv, doi. 10.1002/humu.21593
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- Publication type:
- Article
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 5, p. 761, doi. 10.1093/hmg/ddab286
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- Publication type:
- Article
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 13, p. 1218, doi. 10.1093/hmg/ddab117
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- Publication type:
- Article
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 1, p. 133, doi. 10.1093/hmg/ddw374
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- Publication type:
- Article
Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation.
- Published in:
- 2010
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- Publication type:
- Case Study
Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2120
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- Publication type:
- Article
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
- Published in:
- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0145951
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- Publication type:
- Article
Mitochondrial haplogroup U is associated with areduced risk to develop exfoliation glaucoma inthe German population.
- Published in:
- BMC Genetics, 2010, v. 11, p. 8, doi. 10.1186/1471-2156-11-8
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- Publication type:
- Article