Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders
出版年份 2015 全文链接
标题
Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders
作者
关键词
-
出版物
JOURNAL OF INTERNAL MEDICINE
Volume 279, Issue 1, Pages 3-15
出版商
Wiley
发表日期
2015-08-07
DOI
10.1111/joim.12399
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway
- (2014) Rocio Acuna-Hidalgo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
- (2014) Henrik Stranneheim et al. BMC GENOMICS
- ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism
- (2014) Heidi Peters et al. BRAIN
- Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies
- (2014) Capucine Picard et al. EUROPEAN JOURNAL OF IMMUNOLOGY
- Genome sequencing identifies major causes of severe intellectual disability
- (2014) Christian Gilissen et al. NATURE
- Resolving the complexity of the human genome using single-molecule sequencing
- (2014) Mark J. P. Chaisson et al. NATURE
- Technology: The $1,000 genome
- (2014) Erika Check Hayden NATURE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Comprehensive variation discovery in single human genomes
- (2014) Neil I Weisenfeld et al. NATURE GENETICS
- Novel (ovario) leukodystrophy related to AARS2 mutations
- (2014) C. Dallabona et al. NEUROLOGY
- ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
- (2013) Tobias B. Haack et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
- (2013) Krishna R. Veeramah et al. EPILEPSIA
- ACMG clinical laboratory standards for next-generation sequencing
- (2013) Heidi L. Rehm et al. GENETICS IN MEDICINE
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
- (2012) Johannes A. Mayr et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations
- (2012) Marjan E. Steenweg et al. BRAIN
- Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy
- (2012) Jenni M. Elo et al. HUMAN MOLECULAR GENETICS
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
- (2012) S. E. Calvo et al. Science Translational Medicine
- Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
- (2012) C. J. Saunders et al. Science Translational Medicine
- Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function
- (2011) Magnus K. Bjursell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
- (2011) Alexandra Götz et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng et al. NATURE GENETICS
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- Target-enrichment strategies for next-generation sequencing
- (2010) Lira Mamanova et al. NATURE METHODS
- Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
- (2010) Eugene V. Davydov et al. PLoS Computational Biology
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Amplification-free Illumina sequencing-library preparation facilitates improved mapping and assembly of (G+C)-biased genomes
- (2009) Iwanka Kozarewa et al. NATURE METHODS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Sequencing technologies — the next generation
- (2009) Michael L. Metzker NATURE REVIEWS GENETICS
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started