Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss

Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes

(2015) Shin-Ya Nishio et al.   Genetic Testing and Molecular Biomarkers

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

(2015) Rajini R Haraksingh et al.   BMC GENOMICS

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

(2014) A. Eliot Shearer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies a Novel Frameshift Mutation ofMYO6as the Cause of Autosomal Dominant Nonsyndromic Hearing Loss in a Chinese Family

(2014) Jing Cheng et al.   ANNALS OF HUMAN GENETICS

Comprehensive genetic testing can save lives in hereditary hearing loss

(2014) D. Tekin et al.   CLINICAL GENETICS

Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations

(2014) X. Gu et al.   CLINICAL GENETICS

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

(2014)   GENETICS IN MEDICINE

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

(2014) Barbara Vona et al.   GENETICS IN MEDICINE

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible and more sensitive for variant detection, than exome sequencing

(2014) Mark B. Consugar et al.   GENETICS IN MEDICINE

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

(2014) Yu Lu et al.   JOURNAL OF HUMAN GENETICS

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

(2014) Qinjun Wei et al.   Journal of Translational Medicine

Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication

(2014) Joo Hyun Park et al.   Orphanet Journal of Rare Diseases

Whole-Exome Sequencing to Decipher the Genetic Heterogeneity of Hearing Loss in a Chinese Family with Deaf by Deaf Mating

(2014) Jie Qing et al.   PLoS One

Copy number variants are a common cause of non-syndromic hearing loss

(2014) A Shearer et al.   Genome Medicine

The Many Faces of Sensorineural Hearing Loss: One Founder and Two Novel Mutations Affecting One Family of Mixed Jewish Ancestry

(2013) Doron M. Behar et al.   Genetic Testing and Molecular Biomarkers

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

Advancing genetic testing for deafness with genomic technology

(2013) A Eliot Shearer et al.   JOURNAL OF MEDICAL GENETICS

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

(2013) Hideki Mutai et al.   Orphanet Journal of Rare Diseases

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing

(2013) Tao Yang et al.   Orphanet Journal of Rare Diseases

Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss

(2013) Theru A. Sivakumaran et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss

(2013) Mohsin Shahzad et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment

(2013) Chen-Chi Wu et al.   PLoS One

Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

(2013) Xue Gao et al.   PLoS One

Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss

(2013) Byung Yoon Choi et al.   PLoS One

Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS

(2013) Maiko Miyagawa et al.   PLoS One

Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3

(2013) Nicole Hoppman et al.   Molecular Cytogenetics

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

(2012) Isabelle Schrauwen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

(2012) Sarah De Keulenaer et al.   BMC Medical Genomics

Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B

(2012) Xiaoming Wei et al.   CLINICA CHIMICA ACTA

A Low-Cost Exon Capture Method Suitable for Large-Scale Screening of Genetic Deafness by the Massively-Parallel Sequencing Approach

(2012) Wenxue Tang et al.   Genetic Testing and Molecular Biomarkers

Taxonomizing, sizing and overcoming the incidentalome

(2012) Isaac S. Kohane et al.   GENETICS IN MEDICINE

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families

(2012) Jeong-In Baek et al.   Orphanet Journal of Rare Diseases

Incidental Medical Information in Whole-Exome Sequencing

(2012) B. D. Solomon et al.   PEDIATRICS

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

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

Deafness in the genomics era

(2011) A. Eliot Shearer et al.   HEARING RESEARCH

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

(2011) Zippora Brownstein et al.   GENOME BIOLOGY

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

(2010) A. E. Shearer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

(2010) Tom Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Next-Generation DNA Sequencing Methods

(2008) Elaine R. Mardis   Annual Review of Genomics and Human Genetics

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

(2008) Nele Hilgert et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Next-generation DNA sequencing

(2008) Jay Shendure et al.   NATURE BIOTECHNOLOGY