Associated Papers
An explainable model of host genetic interactions linked to COVID-19 severity.
Onoja A et al.
Communications Biology, 2022
Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.
Li W et al.
Frontiers in Genetics, 2022
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Eisenberger T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.
Nordfors K et al.
Cold Spring Harbor Molecular Case Studies, 2018
Comparative genomic analysis of primary tumors and metastases in breast cancer.
Bertucci F et al.
Oncotarget, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Multimodal Imaging of Central Retinal Disease Progression in a 2-Year Mean Follow-up of Retinitis Pigmentosa.
Sujirakul T et al.
American Journal of Ophthalmology, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
Extended mutation spectrum of Usher syndrome in Finland.
Västinsalo H et al.
Acta Ophthalmologica, 2013
IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.
Schorderet DF et al.
Biomed Research International, 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
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee TL et al.
Journal of Medical Genetics, 2010
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Jaijo T et al.
Investigative Ophthalmology & Visual Science, 2010
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Dreyer B et al.
Human Mutation, 2008