A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.
about
The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and managementDuchenne Muscular Dystrophy: From Diagnosis to TherapyDiagnostic NGS for Severe Neuromuscular Disorders.Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patientsMyoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case reportExome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthDiagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencingThe genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsNext-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesSystematic review of autosomal recessive ataxias and proposal for a classification.Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.RNAseq analysis for the diagnosis of muscular dystrophy.Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis.Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.Early-Life Epilepsies and the Emerging Role of Genetic Testing.Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions."Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.Systematic reanalysis of genomic data improves quality of variant interpretation.The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care.Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants.
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P2860
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
A comprehensive genomic approa ...... gives a high diagnostic yield.
@en
A comprehensive genomic approa ...... gives a high diagnostic yield.
@nl
type
label
A comprehensive genomic approa ...... gives a high diagnostic yield.
@en
A comprehensive genomic approa ...... gives a high diagnostic yield.
@nl
prefLabel
A comprehensive genomic approa ...... gives a high diagnostic yield.
@en
A comprehensive genomic approa ...... gives a high diagnostic yield.
@nl
P2093
P2860
P356
P1433
P1476
A comprehensive genomic approa ...... gives a high diagnostic yield.
@en
P2093
Alessandra Ferlini
Alice K Tanner
Arunkanth Ankala
Christin Collins
Cristina da Silva
Francesca Gualandi
Lora J H Bean
Madhuri R Hegde
P2860
P304
P356
10.1002/ANA.24303
P577
2014-12-17T00:00:00Z