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Title
Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 35, Issue 1, Pages 45-49
Publisher
Wiley
Online
2013-10-12
DOI
10.1002/humu.22451
References
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Related references
Note: Only part of the references are listed.- FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data
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- Rare-disease genetics in the era of next-generation sequencing: discovery to translation
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- (2013) D. S. Lieber et al. NEUROLOGY
- Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
- (2013) Hugh J McMillan et al. Orphanet Journal of Rare Diseases
- Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
- (2012) Menachem Fromer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders
- (2012) M. B. Hammer et al. EUROPEAN JOURNAL OF NEUROLOGY
- Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease
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- Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
- (2012) Martin H. Berryer et al. HUMAN MUTATION
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- (2012) Anita Rauch et al. LANCET
- Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases
- (2012) A. Sailer et al. NEUROLOGY
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Exome Sequencing Can Improve Diagnosis and Alter Patient Management
- (2012) T. J. Dixon-Salazar et al. Science Translational Medicine
- Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
- (2012) S. E. Calvo et al. Science Translational Medicine
- Exome sequencing: Dual role as a discovery and diagnostic tool
- (2011) Chee-Seng Ku et al. ANNALS OF NEUROLOGY
- Whole exome and whole genome sequencing
- (2011) David Bick et al. CURRENT OPINION IN PEDIATRICS
- What can exome sequencing do for you?
- (2011) J. Majewski et al. JOURNAL OF MEDICAL GENETICS
- Exome sequencing: a transformative technology
- (2011) Andrew B Singleton LANCET NEUROLOGY
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Exome sequencing as a tool for Mendelian disease gene discovery
- (2011) Michael J. Bamshad et al. NATURE REVIEWS GENETICS
- Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine?
- (2011) S. F. Kingsmore et al. Science Translational Medicine
- A method and server for predicting damaging missense mutations
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- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Identification of deleterious mutations within three human genomes
- (2009) S. Chun et al. GENOME RESEARCH
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
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