Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.

Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.

Identification of causative genes for hereditary nonsyndromic hearing loss (NSHL) is important to decide treatment modalities and to counsel the patients. Due to the genetic heterogeneity in sensorineural genetic disorders, the high-throughput method can be adapted for the efficient diagnosis. To th...

Full description

Bibliographic Details
Main Authors:	Byung Yoon Choi, Gibeom Park, Jungsoo Gim, Ah Reum Kim, Bong-Jik Kim, Hyo-Sang Kim, Joo Hyun Park, Taesung Park, Seung-Ha Oh, Kyu-Hee Han, Woong-Yang Park
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2013-01-01
Series:	PLoS ONE
Online Access:	http://europepmc.org/articles/PMC3750053?pdf=render

Similar Items

Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity.
by: So Young Kim, et al.
Published: (2013-01-01)

Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.
by: Bong Jik Kim, et al.
Published: (2016-01-01)

Hearing loss in neonates and infants
by: Goun Choe, et al.
Published: (2023-09-01)

Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
by: So Young Kim, et al.
Published: (2015-01-01)

Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans.
by: Kyu-Hee Han, et al.
Published: (2016-01-01)

BALLI: Bartlett-adjusted likelihood-based linear model approach for identifying differentially expressed genes with RNA-seq data
by: Kyungtaek Park, et al.
Published: (2019-07-01)

Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain.
by: Nayoung K D Kim, et al.
Published: (2015-01-01)

Efficacy of cochlear implants in children with borderline hearing who have already achieved significant language development with hearing aids.
by: Young Seok Kim, et al.
Published: (2022-01-01)

Efficacy of cochlear implants in children with borderline hearing who have already achieved significant language development with hearing aids
by: Young Seok Kim, et al.
Published: (2022-01-01)

Novel Variant in <i>CEP250</i> Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
by: Minjin Kang, et al.
Published: (2023-09-01)

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss
by: So Young Kim, et al.
Published: (2022-07-01)

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients
by: Margit Pál, et al.
Published: (2023-04-01)

Genetic Risk Assessment of Nonsyndromic Cleft Lip with or without Cleft Palate by Linking Genetic Networks and Deep Learning Models
by: Geon Kang, et al.
Published: (2023-02-01)

Prediction of the wave induced second order vertical bending moment due to the variation of the ship side angle by using the quadratic strip theory
by: Seunglyong Kim, et al.
Published: (2018-05-01)

Epidemiological study on nonsyndromic hearing impairment: North Karnataka, India
by: Smita Hegde, et al.
Published: (2023-01-01)

Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
by: Jinsei Jung, et al.
Published: (2018-11-01)

Whole-Genome Resequencing of Near-Isogenic Lines Reveals a Genomic Region Associated with High <i>Trans</i>-Lycopene Contents in Watermelon
by: Siyoung Lee, et al.
Published: (2021-12-01)

Risk factors for failure in the newborn hearing screen test in very preterm twins
by: So Young Kim, et al.
Published: (2018-12-01)

Effects of Korean Red Ginseng on Hearing and Blood Glucose Levels in Steroid Therapy for Sudden Sensorineural Hearing Loss
by: So-Young Park, et al.
Published: (2014-09-01)

Discovery of Gene Sources for Economic Traits in Hanwoo by Whole-genome Resequencing
by: Younhee Shin, et al.
Published: (2016-09-01)

Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases
by: Xing J, et al.
Published: (2016-06-01)

Amino acid digestibility in plant protein sources fed to growing pigs
by: Ah Reum Son, et al.
Published: (2019-11-01)

Determinants of Conductive Hearing Loss in Tympanic Membrane Perforation
by: Hanaro Park, et al.
Published: (2015-06-01)

Audiologic Characteristics of Hearing and Tinnitus in Occupational Noise-Induced Hearing Loss
by: Hee Jin Kang, et al.
Published: (2021-07-01)

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
by: Hee-Jin Kim, et al.
Published: (2013-01-01)

A novel missense mutation in the connexin30 causes nonsyndromic hearing loss.
by: Wen-Hung Wang, et al.
Published: (2011-01-01)

Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment.
by: Yongyi Yuan, et al.
Published: (2012-01-01)

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
by: Tahir Atik, et al.
Published: (2015-01-01)

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort
by: Amjad Khan, et al.
Published: (2019-09-01)

Prevalence of mitochondrial DNA mutations in sporadic patients with nonsyndromic sensorineural hearing loss
by: Hua Jiang, et al.

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity
by: So Young Kim, et al.
Published: (2021-09-01)

Changes in microRNA Expression in the Cochlear Nucleus and Inferior Colliculus after Acute Noise-Induced Hearing Loss
by: Sohyeon Park, et al.
Published: (2020-11-01)

Association of Metabolic Syndrome with Sensorineural Hearing Loss
by: Hwa-Sung Rim, et al.
Published: (2021-10-01)

HisCoM-mimi: software for hierarchical structural component analysis for miRNA-mRNA integration model for binary phenotypes
by: Yongkang Kim, et al.
Published: (2019-03-01)

Robust Gene-Gene Interaction Analysis in Genome Wide Association Studies.
by: Yongkang Kim, et al.
Published: (2015-01-01)

Genomic Analysis of Korean Patient With Microcephaly
by: Jiwon Lee, et al.
Published: (2021-01-01)

Maternal and Placental Factors Associated with Congenital Hearing Loss in Very Preterm Neonates
by: Shin Hye Kim, et al.
Published: (2017-06-01)

Efficient recovery of recombinant CRM197 expressed as inclusion bodies in E.coli.
by: Ah-Reum Park, et al.
Published: (2018-01-01)

Speech Enhancement for Hearing Aids with Deep Learning on Environmental Noises
by: Gyuseok Park, et al.
Published: (2020-09-01)

The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar
by: Shaza Alkhidir, et al.
Published: (2024-02-01)