A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach
about
Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese familyCombined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.Advancing genetic testing for deafness with genomic technology.Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesisResolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.Unlocking the vault: next-generation museum population genomics.VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairmentTargeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness.Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technologyApplications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.Genetics: advances in genetic testing for deafness.Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of CareMolecular diagnostics for hereditary hearing loss in children.DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
P2860
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P2860
A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach
description
2012 nî lūn-bûn
@nan
2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
A low-cost exon capture method ...... y-parallel sequencing approach
@ast
A low-cost exon capture method ...... y-parallel sequencing approach
@en
A low-cost exon capture method ...... y-parallel sequencing approach
@nl
type
label
A low-cost exon capture method ...... y-parallel sequencing approach
@ast
A low-cost exon capture method ...... y-parallel sequencing approach
@en
A low-cost exon capture method ...... y-parallel sequencing approach
@nl
prefLabel
A low-cost exon capture method ...... y-parallel sequencing approach
@ast
A low-cost exon capture method ...... y-parallel sequencing approach
@en
A low-cost exon capture method ...... y-parallel sequencing approach
@nl
P2093
P2860
P356
P1476
A low-cost exon capture method ...... y-parallel sequencing approach
@en
P2093
Douglas Mattox
Harrison Han
N Wendell Todd
Shoeb Ahmad
Shouting Huang
Wenxue Tang
P2860
P304
P356
10.1089/GTMB.2011.0187
P577
2012-04-05T00:00:00Z