Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
出版年份 2017 全文链接
标题
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume 20, Issue 4, Pages 464-469
出版商
Springer Nature
发表日期
2017-09-14
DOI
10.1038/gim.2017.128
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。- Recommendations for the integration of genomics into clinical practice
- (2016) Sarah Bowdin et al. GENETICS IN MEDICINE
- Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers
- (2016) Aaron M. Wenger et al. GENETICS IN MEDICINE
- The importance of dynamic re-analysis in diagnostic whole exome sequencing
- (2016) Anna C Need et al. JOURNAL OF MEDICAL GENETICS
- Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care
- (2016) Alison Hamilton et al. Molecular Genetics & Genomic Medicine
- Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations
- (2016) Amit Tiwari et al. PLoS One
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
- (2015) Jessica X. Chong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions
- (2015) Stefan H. Lelieveld et al. HUMAN MUTATION
- Variant detection sensitivity and biases in whole genome and exome sequencing
- (2014) Alison M Meynert et al. BMC BIOINFORMATICS
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- (2014) Hane Lee et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Characterizing and measuring bias in sequence data
- (2013) Michael G Ross et al. GENOME BIOLOGY
- Clinical application of exome sequencing in undiagnosed genetic conditions
- (2012) Anna C Need et al. JOURNAL OF MEDICAL GENETICS
- Unlocking Mendelian disease using exome sequencing
- (2011) Christian Gilissen et al. GENOME BIOLOGY
- Leukoencephalopathy With Vanishing White Matter: A Review
- (2010) Marianna Bugiani et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis
- (2010) Danielle Crompton et al. MOLECULAR GENETICS AND METABOLISM
- Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
- (2008) M. A. Kurian et al. NEUROLOGY
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