Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine?
出版年份 2011 全文链接
标题
Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine?
作者
关键词
-
出版物
Science Translational Medicine
Volume 3, Issue 87, Pages 87ps23-87ps23
出版商
American Association for the Advancement of Science (AAAS)
发表日期
2011-06-16
DOI
10.1126/scitranslmed.3002695
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。- Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa
- (2011) Stephan Züchner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
- (2011) Minal Çalışkan et al. HUMAN MOLECULAR GENETICS
- Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
- (2011) Michael A Simpson et al. NATURE GENETICS
- Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing
- (2011) C. J. Bell et al. Science Translational Medicine
- Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency
- (2010) Alexandre Bolze et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82
- (2010) Tom Walsh et al. AMERICAN JOURNAL OF HUMAN GENETICS
- TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
- (2010) Jun Ling Wang et al. BRAIN
- 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
- How to catch all those mutations-the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010
- (2010) Maija R.J. Kohonen-Corish et al. HUMAN MUTATION
- Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
- (2010) Kaya Bilgüvar et al. NATURE
- Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
- (2010) Tobias B Haack et al. NATURE GENETICS
- Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
- (2010) Peter M Krawitz et al. NATURE GENETICS
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng et al. NATURE GENETICS
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
- (2010) James R. Lupski et al. NEW ENGLAND JOURNAL OF MEDICINE
- Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene
- (2010) Nara L. M. Sobreira et al. PLoS Genetics
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- 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
- ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
- (2008) C Sue Richards et al. GENETICS IN MEDICINE
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