Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.
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A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth diseaseIdentification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencingThe genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and managementUsing drug response data to identify molecular effectors, and molecular "omic" data to identify candidate drugs in cancerNCI-60 whole exome sequencing and pharmacological CellMiner analysesAn international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathyJannovar: a java library for exome annotation.Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean familiesNovel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.Evolutionary Diagnosis of non-synonymous variants involved in differential drug response.Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeMolecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variabilityA novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.Identification of Korean-specific SNP markers from whole-exome sequencing data.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyWhole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.Molecular genetics of charcot-marie-tooth disease: from genes to genomes.Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel SequencingExome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid PolyneuropathyWhole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genesRecessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysisNext-generation sequencing in understanding complex neurological diseaseExome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing.Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Charcot-Marie-Tooth disease and pathways to molecular based therapies.Optimized detection of insertions/deletions (INDELs) in whole-exome sequencing data.Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
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Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Exome sequencing is an efficie ...... f Charcot-Marie-Tooth disease.
@en
Exome sequencing is an efficie ...... f Charcot-Marie-Tooth disease.
@nl
type
label
Exome sequencing is an efficie ...... f Charcot-Marie-Tooth disease.
@en
Exome sequencing is an efficie ...... f Charcot-Marie-Tooth disease.
@nl
prefLabel
Exome sequencing is an efficie ...... f Charcot-Marie-Tooth disease.
@en
Exome sequencing is an efficie ...... f Charcot-Marie-Tooth disease.
@nl
P2093
P2860
P356
P1433
P1476
Exome sequencing is an efficie ...... f Charcot-Marie-Tooth disease.
@en
P2093
Byung-Ok Choi
Hae-Mi Woo
Han Su Kim
Hwanseok Rhee
Hye Jin Lee
Khriezhanuo Nakhro
Ki Wha Chung
Kyoung-Gyu Choi
Mi-Hyun Park
Song-Ju Yang
P2860
P304
P356
10.1002/HUMU.22143
P577
2012-07-05T00:00:00Z