Associated Papers
Translational readthrough using TRIDs - Achievements and challenges for the treatment of inherited retinal disorders.
Nagel-Wolfrum K et al.
Molecular Aspects of Medicine, 2026
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M 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
Outcomes of cochlear implants in patients with PCDH15 mutations: a clinical study.
Bi Q et al.
Frontiers in Genetics, 2025
Current approaches for Usher syndrome disease models and developing therapies.
Leith FK et al.
Frontiers in Cell and Developmental Biology, 2025
PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models.
Ivanchenko MV et al.
The Journal of Clinical Investigation, 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
Updates on Genetic Hearing Loss: From Diagnosis to Targeted Therapies.
Yun Y et al.
Journal of Audiology & Otology, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F.
Riaz S et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023
Advances in cochlear gene therapies.
Klimara MJ et al.
Current Opinion in Pediatrics, 2023
PCDH15 Dual-AAV Gene Therapy for Deafness and Blindness in Usher Syndrome Type 1F.
Ivanchenko MV et al.
Biorxiv : the Preprint Server for Biology, 2023
Rescue of hearing by adenine base editing in a humanized mouse model of Usher syndrome type 1F.
Peters CW et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023
Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss.
Yang Z et al.
Molecular Genetics & Genomic Medicine, 2023
Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F.
Ivanchenko MV et al.
Nature Communications, 2023
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.
Einhorn Y et al.
Human Genomics, 2023
Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.
Allred ET et al.
Frontiers in Pediatrics, 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
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa.
Chen N et al.
Bmc Ophthalmology, 2022
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Griffith J et al.
Genes, 2022
Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome.
Sethna S et al.
Elife, 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
Whole-exome sequencing for ocular adnexal sebaceous carcinoma suggests PCDH15 as a novel mutation associated with metastasis.
Xu S et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 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
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
Fuster-García C et al.
Scientific Reports, 2018
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
Yahalom C et al.
Ophthalmic Genetics, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
Khalaileh A et al.
Investigative Ophthalmology & Visual Science, 2018
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.
Saleha S et al.
International Journal of Ophthalmology, 2016
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
Nishio SY et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.
Perreault-Micale C et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014