Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

Identification of Genes for Childhood Heritable Diseases

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Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss

(2014) Érika L. Freitas et al.   European Journal of Medical Genetics

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients

(2014) D. Vozzi et al.   GENE

WFS1 and non-syndromic low-frequency sensorineural hearing loss: A novel mutation in a Portuguese case

(2014) A.C. Gonçalves et al.   GENE

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

(2014) Barbara Vona et al.   GENETICS IN MEDICINE

Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus

(2013) Emily Gallant et al.   AMERICAN JOURNAL OF OTOLARYNGOLOGY

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

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

(2013) Zippora Brownstein et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing

(2013) Yao Yang et al.   GENOMICS

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family

(2013) Dong-Ye Chen et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

The promise of whole-exome sequencing in medical genetics

(2013) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss

(2013) Byung Yoon Choi et al.   PLoS One

Whole exome sequencing identifies a novelDFNA9mutation, C162Y

(2012) J Gao et al.   CLINICAL GENETICS

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility

(2012) Amirreza Haghighi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Comorbidity of GJB2 and WFS1 mutations in one family

(2012) Shujiro B. Minami et al.   GENE

Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: Assessment of GJB4, GJA1, and GJC3

(2012) Daniz Kooshavar et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Genomic sequencing in clinical trials

(2011) Karen K Mestan et al.   Journal of Translational Medicine

Recurrent GNAS Mutations Define an Unexpected Pathway for Pancreatic Cyst Development

(2011) J. Wu et al.   Science Translational Medicine

A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss

(2010) Hee Keun Lee et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

SolexaQA: At-a-glance quality assessment of Illumina second-generation sequencing data

(2010) Murray P Cox et al.   BMC BIOINFORMATICS

β-Actin and γ-Actin Are Each Dispensable for Auditory Hair Cell Development But Required for Stereocilia Maintenance

(2010) Benjamin J. Perrin et al.   PLoS Genetics

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort

(2009) Elona Cama et al.   INTERNATIONAL JOURNAL OF AUDIOLOGY

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

(2008) Xue-Zhong Liu et al.   HUMAN GENETICS

Missense mutations inPOU4F3cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

(2008) Rob W.J. Collin et al.   HUMAN MUTATION

Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family

(2008) Ping Liu et al.   Journal of Genetics and Genomics

Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening

(2007) Cai-Xia Li et al.   HUMAN MUTATION