|
| 38016437 | The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes. | Ophthalmic Res | 2024 |
| 36084042 | Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies. | Hum Mol Genet | 2023 |
| 37768732 | TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa. | JCI Insight | 2023 |
| 37001522 | In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening. | Med | 2023 |
| 37094557 | A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing. | Ophthalmic Res | 2023 |
| 36650090 | A Unique Presentation of Bilateral Chorioretinal Atrophy. | Asia Pac J Ophthalmol (Phila) | 2023 |
| 36909829 | The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. | PNAS Nexus | 2023 |
| 33397746 | Biallelic variants in <i>ZNF526</i> cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. | J Med Genet | 2022 |
| 35637419 | Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq. | Nat Biotechnol | 2022 |
| 36327219 | Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. | PLoS Genet | 2022 |
| 35946463 | A new nonsense mutation in <i>HMX1</i> in two siblings with oculoauricular syndrome. | Ophthalmic Genet | 2022 |
| 36317447 | New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV. | Hum Mutat | 2022 |
| 35120630 | Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity. | Am J Hum Genet | 2022 |
| 34999892 | Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. | Hum Mol Genet | 2022 |
| 35326726 | Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening. | Cancers (Basel) | 2022 |
| 34469340 | c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1. | Cornea | 2022 |
| 34781300 | Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness. | Ophthalmic Res | 2022 |
| 33300174 | New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV. | Hum Mutat | 2021 |
| 33568816 | Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. | Nature | 2021 |
| 33483490 | AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data. | Nat Commun | 2021 |
| 33586135 | Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene. | Clin Genet | 2021 |
| 34588515 | Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies. | Sci Rep | 2021 |
| 34573379 | Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous <i>KDM5B</i> Variants. | Genes (Basel) | 2021 |
| 34448047 | NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases. | Hum Genet | 2021 |
| 34188062 | Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. | NPJ Genom Med | 2021 |
| 31634165 | Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa. | Clin Dysmorphol | 2020 |
| 31931739 | Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature. | BMC Neurol | 2020 |
| 33173045 | Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies. | Sci Rep | 2020 |
| 32566994 | Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome. | Ophthalmol Ther | 2020 |
| 32533184 | An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. | Hum Mol Genet | 2020 |
| 31012789 | A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. | Ophthalmic Genet | 2019 |
| 31869396 | Herpes simplex encephalitis in adult patients with MASP-2 deficiency. | PLoS Pathog | 2019 |
| 31877759 | Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in <i>ABCA4</i>. | Genes (Basel) | 2019 |
| 31263216 | The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene. | Genet Med | 2019 |
| 31425546 | Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. | PLoS Genet | 2019 |
| 31253780 | A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. | Nat Commun | 2019 |
| 29320387 | Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. | Genes (Basel) | 2018 |
| 29503225 | Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis. | EBioMedicine | 2018 |
| 28985496 | DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders. | Am J Hum Genet | 2017 |
| 27052569 | Likelihood-Free Inference in High-Dimensional Models. | Genetics | 2016 |
| 24972996 | Characteristic bimodal profiles of RNA polymerase II at thousands of active mammalian promoters. | Genome Biol | 2014 |