Associated Papers
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
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
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
Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
Nagel-Wolfrum K et al.
Human Molecular Genetics, 2023
The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling.
Schäfer J 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
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C et al.
European Journal of Human Genetics : Ejhg, 2016
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
Dad S et al.
Molecular Genetics & Genomic Medicine, 2016
Targeted exon sequencing in Usher syndrome type I.
Bujakowska KM et al.
Investigative Ophthalmology & Visual Science, 2014
Diagnostic Yield and Genetic Variation in 85 Swedish Patients with Mild to Profound Hearing Loss Analyzed by Whole Genome Sequencing.
Elander J et al.
Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-rhino-laryngologie Et De Chirurgie Cervico-faciale, 0