Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches. (Q30659582)

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English	Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.	scientific article

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Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches (English)

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Yu Lu

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Zhanguo Jin

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Jing Cheng

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Weidong Shen

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Fei Ji

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Liyang Liu

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Xuegong Zhang

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Michael Zhang

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Ye Cao

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Dongyi Han

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KwongWai Choy

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Huijun Yuan

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18 September 2014

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Journal of Human Genetics

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599-607

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Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

18 September 2014

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Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

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Advancing genetic testing for deafness with genomic technology

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The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age.

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Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.

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A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

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Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.

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Comparison of solution-based exome capture methods for next generation sequencing

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Performance comparison of exome DNA sequencing technologies

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20 June 2018

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

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dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

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Current concepts in the treatment of retinitis pigmentosa

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Structural determinants of cadherin-23 function in hearing and deafness

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Microdroplet-based PCR enrichment for large-scale targeted sequencing

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Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

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Newborn hearing screening--a silent revolution

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From deafness genes to hearing mechanisms: harmony and counterpoint

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CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

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10.1038/JHG.2014.78

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