- Home
- Publications
- Publication Search
- Publication Details
Title
Exome sequencing: Dual role as a discovery and diagnostic tool
Authors
Keywords
-
Journal
ANNALS OF NEUROLOGY
Volume 71, Issue 1, Pages 5-14
Publisher
Wiley
Online
2011-10-17
DOI
10.1002/ana.22647
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa
- (2011) Stephan Züchner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome sequencing of a pedigree with tourette syndrome or chronic tic disorder
- (2011) Senthil K. Sundaram et al. ANNALS OF NEUROLOGY
- Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family
- (2011) Gladys Montenegro et al. ANNALS OF NEUROLOGY
- Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV
- (2011) Jarupon Fah Sathirapongsasuti et al. BIOINFORMATICS
- Targeted next-generation sequencing: microdroplet PCR approach for variant detection in research and clinical samples
- (2011) Matthew J Huentelman EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Downsizing genomic medicine: Approaching the ethical complexity of whole-genome sequencing by starting small
- (2011) Richard R Sharp GENETICS IN MEDICINE
- Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing
- (2011) Jonathan S Berg et al. GENETICS IN MEDICINE
- Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
- (2011) Jonathan S Berg et al. GENETICS IN MEDICINE
- Revisiting Mendelian disorders through exome sequencing
- (2011) Chee-Seng Ku et al. HUMAN GENETICS
- A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing
- (2011) J. Majewski et al. JOURNAL OF MEDICAL GENETICS
- Identification of ADAMTS18 as a gene mutated in Knobloch syndrome
- (2011) M. A. Aldahmesh et al. JOURNAL OF MEDICAL GENETICS
- What can exome sequencing do for you?
- (2011) J. Majewski et al. JOURNAL OF MEDICAL GENETICS
- Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
- (2011) D. Watkins et al. JOURNAL OF MEDICAL GENETICS
- Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform
- (2011) B. C. Lim et al. JOURNAL OF MEDICAL GENETICS
- Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities
- (2011) Kasmintan A Schrader et al. JOURNAL OF PATHOLOGY
- An integrated semiconductor device enabling non-optical genome sequencing
- (2011) Jonathan M. Rothberg et al. NATURE
- Performance comparison of exome DNA sequencing technologies
- (2011) Michael J Clark et al. NATURE BIOTECHNOLOGY
- Increased exonic de novo mutation rate in individuals with schizophrenia
- (2011) Simon L Girard et al. NATURE GENETICS
- Challenges of sequencing human genomes
- (2010) D. C. Koboldt et al. BRIEFINGS IN BIOINFORMATICS
- Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
- (2010) Elizabeth A Worthey et al. GENETICS IN MEDICINE
- Exome sequencing: the sweet spot before whole genomes
- (2010) J. K. Teer et al. HUMAN MOLECULAR GENETICS
- Massively parallel sequencing and rare disease
- (2010) S. B. Ng et al. HUMAN MOLECULAR GENETICS
- Massively parallel sequencing of ataxia genes after array-based enrichment
- (2010) Alexander Hoischen et al. HUMAN MUTATION
- Target-enrichment strategies for next-generation sequencing
- (2010) Lira Mamanova et al. NATURE METHODS
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
- (2010) James R. Lupski et al. NEW ENGLAND JOURNAL OF MEDICINE
- Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome
- (2010) Amélie Bonnefond et al. PLoS One
- Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
- (2010) Tom Walsh et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The $1,000 genome, the $100,000 analysis?
- (2010) Elaine R Mardis Genome Medicine
- Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine
- (2009) Tracy Tucker et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Methods for Genomic Partitioning
- (2009) Emily H. Turner et al. Annual Review of Genomics and Human Genetics
- Finding the missing heritability of complex diseases
- (2009) Teri A. Manolio et al. NATURE
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Sequencing technologies — the next generation
- (2009) Michael L. Metzker NATURE REVIEWS GENETICS
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
- (2009) Murim Choi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Common and rare alleles as causes of complex phenotypes
- (2008) Constantin Polychronakos Current Atherosclerosis Reports
- Identifying modifier genes of monogenic disease: strategies and difficulties
- (2008) Emmanuelle Génin et al. HUMAN GENETICS
- Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing
- (2008) Dirk Goossens et al. HUMAN MUTATION
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started