Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

(2013) Gibeom Park et al.   BMC GENOMICS

Advancing genetic testing for deafness with genomic technology

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Whole exome sequencing identifies a novelDFNA9mutation, C162Y

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Detecting and annotating genetic variations using the HugeSeq pipeline

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Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness

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Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

(2012) Oscar Diaz-Horta et al.   PLoS One

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

(2011) Lauren J. Francey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways

(2011) G. Girotto et al.   JOURNAL OF MEDICAL GENETICS

Regulation of Synapse Structure and Function by Distinct Myosin II Motors

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Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

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Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)

(2011) Juan Rodriguez-Paris et al.   PLoS One

Genome-Wide Mapping of Copy Number Variation in Humans: Comparative Analysis of High Resolution Array Platforms

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A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo

(2011) Graciana Diez-Roux et al.   PLOS BIOLOGY

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

(2010) Tom Walsh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

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A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Hearing Loss: Mechanisms Revealed by Genetics and Cell Biology

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Two novel/ancient myosins in mammalian skeletal muscles: MYH14/7b and MYH15 are expressed in extraocular muscles and muscle spindles

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Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss

(2008) Delphine Feldmann et al.   European Journal of Medical Genetics

Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?

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High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution

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