An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia
出版年份 2012 全文链接
标题
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia
作者
关键词
-
出版物
HUMAN MUTATION
Volume 33, Issue 4, Pages 614-626
出版商
Wiley
发表日期
2012-02-07
DOI
10.1002/humu.22032
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Exome sequencing identifies GRIN2A as frequently mutated in melanoma
- (2011) Xiaomu Wei et al. NATURE GENETICS
- Comparison of Three Targeted Enrichment Strategies on the SOLiD Sequencing Platform
- (2011) Dale J. Hedges et al. PLoS One
- High-quality DNA sequence capture of 524 disease candidate genes
- (2011) P. Shen et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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 comparison of three commercial human whole-exome capture platforms
- (2011) Asan et al. GENOME BIOLOGY
- Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
- (2010) Nyamkhishig Sambuughin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies
- (2010) Véronique Bolduc et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy
- (2010) Hulya Gundesli et al. AMERICAN JOURNAL OF HUMAN GENETICS
- An integrated approach to the diagnosis of muscle disorders: what is the role of muscle imaging?
- (2010) EUGENIO MERCURI DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients
- (2010) Lea Papić et al. European Journal of Medical Genetics
- Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing
- (2010) J. K. Teer et al. GENOME RESEARCH
- Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans
- (2010) Erik Schoenmakers et al. JOURNAL OF CLINICAL INVESTIGATION
- A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4
- (2010) Ery Kus Dwianingsih et al. MOLECULAR GENETICS AND METABOLISM
- Reverse protein arrays as novel approach for protein quantification in muscular dystrophies
- (2010) Claudia Escher et al. NEUROMUSCULAR DISORDERS
- 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
- A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia
- (2010) Mikołaj Słabicki et al. PLOS BIOLOGY
- Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences
- (2010) Jeremy Goecks et al. GENOME BIOLOGY
- Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies
- (2009) Dirk J. Lefeber et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy
- (2009) Lucie Gueneau et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3
- (2009) Jan Senderek et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
- (2009) K. D. Pruitt et al. GENOME RESEARCH
- Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis
- (2009) R. Attali et al. HUMAN MOLECULAR GENETICS
- Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C
- (2009) H. Tajsharghi et al. JOURNAL OF MEDICAL GENETICS
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study
- (2009) E. Mercuri et al. NEUROLOGY
- Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype
- (2009) S. Vuillaumier-Barrot et al. NEUROMUSCULAR DISORDERS
- Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A
- (2009) Richard Charlton et al. NEUROMUSCULAR DISORDERS
- Evaluation of next generation sequencing platforms for population targeted sequencing studies
- (2009) Olivier Harismendy et al. GENOME BIOLOGY
- Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy
- (2008) Alison G. Compton et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia
- (2008) Simon Edvardson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration
- (2008) Maria K. Tsaousidou et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)
- (2008) Pengfei Lin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance
- (2008) Fanny Mochel et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome
- (2008) Sylvain Hanein et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease
- (2008) Shirley Rainier et al. AMERICAN JOURNAL OF HUMAN GENETICS
- X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1
- (2008) Catarina M. Quinzii et al. AMERICAN JOURNAL OF HUMAN GENETICS
- An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1
- (2008) Christian Windpassinger et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations inTPM3are a common cause of congenital fiber type disproportion
- (2008) Nigel F. Clarke et al. ANNALS OF NEUROLOGY
- Mutation in BAG3 causes severe dominant childhood muscular dystrophy
- (2008) Duygu Selcen et al. ANNALS OF NEUROLOGY
- De novoLMNAmutations cause a new form of congenital muscular dystrophy
- (2008) Susana Quijano-Roy et al. ANNALS OF NEUROLOGY
- Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations
- (2008) Jennifer L. Orthmann-Murphy et al. BRAIN
- Recent advances in the genetics of spastic paraplegias
- (2008) Giovanni Stevanin et al. Current Neurology and Neuroscience Reports
- Limb–girdle muscular dystrophies
- (2008) Michela Guglieri et al. CURRENT OPINION IN NEUROLOGY
- Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review)
- (2008) J.D. England et al. MUSCLE & NERVE
- Accurate whole human genome sequencing using reversible terminator chemistry
- (2008) David R. Bentley et al. NATURE
- Identification of genetic variants using bar-coded multiplexed sequencing
- (2008) David W Craig et al. NATURE METHODS
- Autosomal recessive myosclerosis myopathy is a collagen VI disorder
- (2008) L. Merlini et al. NEUROLOGY
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