Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis
出版年份 2020 全文链接
标题
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-05-22
DOI
10.1038/s41436-020-0827-0
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders
- (2019) Lindsay C. Burrage et al. GENETICS IN MEDICINE
- 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis
- (2019) Adam D. Kennedy et al. Frontiers in Neuroscience
- A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers
- (2018) Michael F Wangler et al. GENETICS IN MEDICINE
- A proposed nosology of inborn errors of metabolism
- (2018) Carlos R. Ferreira et al. GENETICS IN MEDICINE
- Analyses of SLC13A5 -epilepsy patients reveal perturbations of TCA cycle
- (2017) Matthew N. Bainbridge et al. MOLECULAR GENETICS AND METABOLISM
- Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
- (2016) Laura M. Amendola et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Novel bioinformatic developments for exome sequencing
- (2016) Stefan H. Lelieveld et al. HUMAN GENETICS
- Clinical application of whole-exome sequencing across clinical indications
- (2015) Kyle Retterer et al. GENETICS IN MEDICINE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
- (2015) Marcus J. Miller et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Aromatic l-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma
- (2015) Paldeep S. Atwal et al. MOLECULAR GENETICS AND METABOLISM
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions
- (2014) Kelly D. Farwell et al. GENETICS IN MEDICINE
- 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
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