Associated Papers
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
Chen M et al.
Signal Transduction and Targeted Therapy, 2022
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome.
Medina G et al.
Cold Spring Harbor Molecular Case Studies, 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
Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2.
He C et al.
Bmc Ophthalmology, 2020
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
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
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
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
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.
Haraksingh RR et al.
Bmc Genomics, 2014
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
Rong W et al.
Plos One, 2014
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
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.
Nakanishi H et al.
Journal of Human Genetics, 2011
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C 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
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
Yan D et al.
Journal of Human Genetics, 2009
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.
Nakanishi H et al.
Clinical Genetics, 2009
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Dreyer B et al.
Human Mutation, 2008
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
Aller E et al.
Journal of Medical Genetics, 2006