Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
Vincke L et al.
Npj Genomic Medicine, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL et al.
Human Genomics, 2024
Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.
Villafuerte-de la Cruz RA et al.
Bmc Ophthalmology, 2024
Genotypic and Phenotypic Characterization of a Cohort of Patients Affected by Rod Cyclic Nucleotide Channel-Associated Retinitis Pigmentosa.
Colombo L et al.
Ophthalmic Research, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
Liu Y et al.
Molecular Cancer, 2023
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese PE et al.
Frontiers in Genetics, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M et al.
Human Mutation, 2021
"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".
Cundy O et al.
Eye (london, England), 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1.
Radojevic B et al.
Ophthalmic Genetics, 2021
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants.
Alshamrani AA et al.
American Journal of Ophthalmology Case Reports, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa.
Afshar F et al.
Eye (london, England), 2020
Expanding the Genetic Landscape of Usher-Like Phenotypes.
Fuster-García C et al.
Investigative Ophthalmology & Visual Science, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.
Xiang Q et al.
Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2018