Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.
Redfield SE et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care.
Colbert BM et al.
The Laryngoscope, 2025
Usher Syndrome: New Insights into Classification, Genotype-Phenotype Correlation, and Management.
D'Esposito F et al.
Genes, 2025
The USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors.
Nonarath HJT et al.
Plos Genetics, 2025
A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.
Redfield SE et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Current approaches for Usher syndrome disease models and developing therapies.
Leith FK et al.
Frontiers in Cell and Developmental Biology, 2025
A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa.
Elasal MA et al.
Genes, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese family.
Wang S et al.
Orphanet Journal of Rare Diseases, 2024
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
Shalom S et al.
Genes, 2024
Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.
Mendia C et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024
The USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors.
Nonarath HJT et al.
Biorxiv : the Preprint Server for Biology, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies.
Ben-Avi R et al.
European Journal of Ophthalmology, 2022
Drug Discovery Strategies for Inherited Retinal Degenerations.
Das A et al.
Biology, 2022
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.
Smirnov VM et al.
Investigative Ophthalmology & Visual Science, 2022
Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.
Marouf A et al.
Human Genetics, 2022
Usher Syndrome: Genetics of a Human Ciliopathy.
Fuster-García C et al.
International Journal of Molecular Sciences, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Vona B et al.
Human Genetics, 2021
Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.
de Joya EM et al.
International Journal of Molecular Sciences, 2021
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman OA et al.
European Journal of Human Genetics : Ejhg, 2020
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
Clarin-1 expression in adult mouse and human retina highlights a role of Müller glia in Usher syndrome.
Xu L et al.
The Journal of Pathology, 2020
Comparison of pan-ethnic and ethnic-based carrier screening panels for individuals of Ashkenazi Jewish descent.
Rosenblum LS et al.
Journal of Genetic Counseling, 2020
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon D et al.
Human Mutation, 2020
Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.
Whatley M et al.
Frontiers in Genetics, 2020
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa.
Takahashi VKL et al.
Orphanet Journal of Rare Diseases, 2019
Unconventional secretory pathway activation restores hair cell mechanotransduction in an USH3A model.
Gopal SR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Cone Spacing Correlates With Retinal Thickness and Microperimetry in Patients With Inherited Retinal Degenerations.
Foote KG et al.
Investigative Ophthalmology & Visual Science, 2019
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
A novel small molecule chaperone of rod opsin and its potential therapy for retinal degeneration.
Chen Y et al.
Nature Communications, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Gene Therapy in Mouse Models of Deafness and Balance Dysfunction.
Wang L et al.
Frontiers in Molecular Neuroscience, 2018