Associated Papers
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 2025
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.
Young SL et al.
Bmc Ophthalmology, 2022
Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss.
Yu D et al.
Computational and Structural Biotechnology Journal, 2020
Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.
Huang L et al.
Eye (london, England), 2018
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Miller EM et al.
Oncotarget, 2017
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
Extended mutation spectrum of Usher syndrome in Finland.
Västinsalo H et al.
Acta Ophthalmologica, 2013
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
Garcia-Garcia G et al.
Orphanet Journal of Rare Diseases, 2011
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C et al.
Orphanet Journal of Rare Diseases, 2011
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Dreyer B et al.
Human Mutation, 2008
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.
Bernal S et al.
Clinical Genetics, 2005
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
Pennings RJ et al.
Human Mutation, 2004
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
Seyedahmadi BJ et al.
Experimental Eye Research, 2004
Mutational spectrum in Usher syndrome type II.
Ouyang XM et al.
Clinical Genetics, 2004
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
Nájera C et al.
Human Mutation, 2002
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
Weston MD et al.
American Journal of Human Genetics, 2000
Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.
Adato A et al.
Human Mutation, 2000