Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
about
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafnessIdentification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencingIdentification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstructionNovel Approaches for Fungal Transcriptomics from Host SamplesCracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and PerspectivesGenetics of hearing loss in Africans: use of next generation sequencing is the best way forwardComprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohortGenetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric PopulationA Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health RecordsNovel candidate genes may be possible predisposing factors revealed by whole exome sequencing in familial esophageal squamous cell carcinoma.Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.Mutations in LOXHD1 gene cause various types and severities of hearing loss.Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.TMC function in hair cell transductionILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells.Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in AfricansComprehensive genetic testing can save lives in hereditary hearing loss.Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder.In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genesWhole-exome sequencing and its impact in hereditary hearing lossWhole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosaAggregation of the protein TRIOBP-1 and its potential relevance to schizophrenia.The promise of whole-exome sequencing in medical genetics.Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria.Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean familiesSNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domainComprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP GeneNovel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.Genetic investigations in childhood deafness.Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care
P2860
Q21090614-6F4BD169-F942-4C7A-B9C3-6B0CA743EF39Q21261480-5F1C9E5E-1C45-4679-A20E-B9CED17B65BBQ24316386-34DB1CD5-5078-4472-B8DA-03C4A64C842BQ26772731-D5C7B464-02A6-45B4-BB0D-1B79E8C035CDQ26776038-A3687CB3-9E22-4D40-AD91-87C5C1491CBCQ26799628-768AB90C-45E6-47E1-88B9-CC144B93E655Q27324049-120E449E-5E76-40FD-A9E8-170512C5ECC0Q30358959-8AF9B73F-78DF-44E0-B9B6-FB36AB34C731Q30371643-AECE440A-C850-459A-AFC0-BA4E36415596Q30401533-0EB247F4-6B1D-45EA-A02C-9F533B822684Q30404099-4D3D0E23-5F10-44FF-BF7E-75FB7D8F1F70Q30411032-78A82A4A-F7B6-4F70-8810-72CD7D284BDDQ30412441-141B4ADA-00CA-4D18-8F41-92E322B30C58Q30413040-164A31C5-289D-4B81-B430-B13EB58F4BDBQ30420205-460B7BD1-B1C3-4668-B5A6-B47C959368A5Q30487513-E6E0C877-CB9A-4475-A16A-051E055DA468Q30586706-42FE8B67-2089-44AC-AB83-9C37DD67BED0Q30842852-2BD307E7-04B6-4B4D-A1EB-3D331E2DE809Q30845348-93554205-A169-4B74-8470-C6233457BDCDQ33832872-5861D220-4643-4D25-A3BD-C9E8A8346C65Q33855580-85767A76-401C-48B4-B719-E15F17ECB665Q33861273-483B2A65-717C-43A5-A705-BB808531F88AQ33889479-39EAC7B2-BB27-4E2C-BB58-3608E52A64E8Q33914788-0A39AEAC-DB09-4830-9FFE-D2F4C8303274Q34380753-38AB7CBF-70ED-446B-BB87-B4C64C61566BQ34382912-88CA5A0C-1C74-4688-95A3-27E370184DF9Q34399839-D3AD54F4-62C2-4010-B3C2-FE9FC4CB057BQ34833228-59A24DB4-760F-4BAB-A6D0-0F8111D39DA0Q35048191-7041325E-DFD1-4D7D-B286-39A27795D003Q35068853-7A1FC338-B39C-45F6-914C-F660479CB945Q35839601-76F4177C-CF48-47C1-A9FE-1D5715D20227Q35945834-36A66861-6125-436B-9A5E-AC9170540152Q35990963-ED88D008-32B3-424C-88B2-50D1F81E65F1Q36107256-B1EB1CC6-78D6-4584-86B3-1E1FB549363EQ36449240-B91AF0A8-CA4D-4A9F-B282-0C2522D2EB66Q36625743-1C9D45E0-4593-4326-83AB-634CB8848DA6Q37309871-28DDE7B8-70D8-4F78-B165-413D7CC3DFFCQ37637310-BB949D7B-245A-4E1D-8FE8-69D008853D81Q38260998-D6A6A22F-7C5E-4526-94DF-E6E412DB3104Q38267074-9569D07B-5705-4598-BA03-BD354251AA49
P2860
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
description
2012 nî lūn-bûn
@nan
2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Whole-exome sequencing efficie ...... ive nonsyndromic hearing loss.
@ast
Whole-exome sequencing efficie ...... ive nonsyndromic hearing loss.
@en
Whole-exome sequencing efficie ...... ive nonsyndromic hearing loss.
@nl
type
label
Whole-exome sequencing efficie ...... ive nonsyndromic hearing loss.
@ast
Whole-exome sequencing efficie ...... ive nonsyndromic hearing loss.
@en
Whole-exome sequencing efficie ...... ive nonsyndromic hearing loss.
@nl
prefLabel
Whole-exome sequencing efficie ...... ive nonsyndromic hearing loss.
@ast
Whole-exome sequencing efficie ...... ive nonsyndromic hearing loss.
@en
Whole-exome sequencing efficie ...... ive nonsyndromic hearing loss.
@nl
P2093
P2860
P50
P1433
P1476
Whole-exome sequencing efficie ...... ive nonsyndromic hearing loss.
@en
P2093
Aslı Sırmacı
Duygu Duman
Filiz Başak Cengiz
Ibis Menendez
Joseph Foster
Michael Gonzalez
Nejat Mahdieh
Nikou Fotouhi
Oscar Diaz-Horta
Rick H Ulloa
P2860
P304
P356
10.1371/JOURNAL.PONE.0050628
P407
P577
2012-11-30T00:00:00Z