Associated Papers
Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations.
Pennesi ME et al.
American Journal of Ophthalmology, 2026
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.
Capasso D et al.
Hgg Advances, 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
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Basharat R et al.
Experimental Eye Research, 2024
Structure of the human heparan-α-glucosaminide N-acetyltransferase (HGSNAT).
Navratna V et al.
Biorxiv : the Preprint Server for Biology, 2024
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
da Palma MM et al.
Ophthalmic Genetics, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
[Natural history of mucopolysaccharidosis type III in a series of Colombian patients].
Cabarcas L et al.
Revista De Neurologia, 2024
Drosophila melanogaster models of MPS IIIC (Hgsnat-deficiency) highlight the role of glia in disease presentation.
Hewson L et al.
Journal of Inherited Metabolic Disease, 2024
NONSYNDROMIC RETINITIS PIGMENTOSA WITH BILATERAL RETINAL NEOVASCULARIZATION DUE TO HGSNAT MUTATION.
Carrera W et al.
Retinal Cases & Brief Reports, 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
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Fadaie Z et al.
Npj Genomic Medicine, 2021
Molecular genetics of inherited retinal degenerations in Icelandic patients.
Thorsteinsson DA et al.
Clinical Genetics, 2021
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Iancu IF et al.
Npj Genomic Medicine, 2021
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff ER et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family.
Long Y et al.
Ophthalmic Genetics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
Martins C et al.
Human Mutation, 2019
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.
Zlotogora J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
Comander J et al.
Genes, 2017
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.
Van Cauwenbergh C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Haer-Wigman L et al.
Human Molecular Genetics, 2015
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).
Fedele AO et al.
Human Mutation, 2010
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
Feldhammer M et al.
Plos One, 2009
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
Feldhammer M et al.
Human Mutation, 2009
Unexpected Etiology in a Case of Bilateral Maculopathy.
Patel P et al.
Case Reports in Ophthalmology, 0
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.
Thuma TBT et al.
Survey of Ophthalmology, 0