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| 36524988 | Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes. | Genet Med | 2023 |
| 37779911 | <i>ABCA4</i> c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease. | Front Genet | 2023 |
| 37287645 | Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry. | Mol Vis | 2023 |
| 37250922 | Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing. | Ophthalmol Sci | 2023 |
| 37296172 | Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients. | Sci Rep | 2023 |
| 36819107 | Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. | Front Cell Dev Biol | 2023 |
| 36785559 | Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction. | HGG Adv | 2023 |
| 36621380 | The genetics and disease mechanisms of rhegmatogenous retinal detachment. | Prog Retin Eye Res | 2023 |
| 36672932 | Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK. | Genes (Basel) | 2023 |
| 34608567 | Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant. | Hum Genet | 2022 |
| 35475888 | ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease. | Invest Ophthalmol Vis Sci | 2022 |
| 35672333 | Scrutinizing pathogenicity of the USH2A c.2276â¿¿Gâ¿¿>â¿¿T; p.(Cys759Phe) variant. | NPJ Genom Med | 2022 |
| 35608844 | Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy. | Invest Ophthalmol Vis Sci | 2022 |
| 35486108 | Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily. | Genet Med | 2022 |
| 36429068 | The Predicted Splicing Variant c.11+5G>A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific Manner. | Cells | 2022 |
| 36362125 | Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in <i>USH2A</i>. | Int J Mol Sci | 2022 |
| 36259723 | Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases. | Hum Mutat | 2022 |
| 33910932 | <i>BBS1</i> branchpoint variant is associated with non-syndromic retinitis pigmentosa. | J Med Genet | 2022 |
| 35226187 | Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants. | Hum Genet | 2022 |
| 35121194 | Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65. | Stem Cell Res | 2022 |
| 35120629 | Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity. | Am J Hum Genet | 2022 |
| 34410491 | Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant. | Hum Genet | 2022 |
| 32817297 | Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa. | J Med Genet | 2021 |
| 33799353 | The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. | Int J Mol Sci | 2021 |
| 35047838 | Long-read technologies identify a hidden inverted duplication in a family with choroideremia. | HGG Adv | 2021 |
| 34795310 | Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases. | NPJ Genom Med | 2021 |
| 33942434 | Benchmarking deep learning splice prediction tools using functional splice assays. | Hum Mutat | 2021 |
| 34203967 | Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases. | Int J Mol Sci | 2021 |
| 32815999 | Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease. | JAMA Ophthalmol | 2020 |
| 32631815 | A <i>RIPOR2</i> in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss. | J Med Genet | 2020 |
| 33022222 | Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. | Am J Hum Genet | 2020 |
| 30324433 | Identification and Analysis of Genes Associated with Inherited Retinal Diseases. | Methods Mol Biol | 2019 |
| 31718697 | The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype. | Orphanet J Rare Dis | 2019 |
| 30950243 | The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy. | Mol Genet Genomic Med | 2019 |
| 29320387 | Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. | Genes (Basel) | 2018 |
| 29971439 | The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. | Invest Ophthalmol Vis Sci | 2018 |
| 30120214 | Homozygous variants in <i>KIAA1549</i>, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. | J Med Genet | 2018 |
| 29978320 | IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis. | Hum Genet | 2018 |
| 28823706 | Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. | Am J Hum Genet | 2017 |
| 28965847 | Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. | Am J Hum Genet | 2017 |
| 28829391 | A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290. | Genes (Basel) | 2017 |
| 27245168 | Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. | Hum Genet | 2016 |
| 27208211 | Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. | J Med Genet | 2016 |
| 25363634 | Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant. | Hum Mutat | 2015 |
| 26167768 | An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. | Nat Cell Biol | 2015 |
| 25859010 | Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). | Hum Mol Genet | 2015 |
| 25873014 | Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy. | Eur J Hum Genet | 2015 |
| 26029869 | Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. | Nat Genet | 2015 |
| 26026149 | Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. | Elife | 2015 |
| 25227500 | Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. | Ophthalmology | 2015 |