MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases
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Title
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases
Authors
Keywords
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Journal
NUCLEIC ACIDS RESEARCH
Volume -, Issue -, Pages -
Publisher
Oxford University Press (OUP)
Online
2021-08-18
DOI
10.1093/nar/gkab726
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Related references
Note: Only part of the references are listed.- Whole-genome sequencing of patients with rare diseases in a national health system
- (2020) Ernest Turro et al. NATURE
- Mitochondrial Diseases: A Diagnostic Revolution
- (2020) Katherine R. Schon et al. TRENDS IN GENETICS
- The Human Phenotype Ontology in 2021
- (2020) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- The Dimensions of Primary Mitochondrial Disorders
- (2020) Lea D. Schlieben et al. Frontiers in Cell and Developmental Biology
- Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
- (2019) Courtney E. French et al. INTENSIVE CARE MEDICINE
- Quantitative Variation in m.3243A > G Mutation Produce Discrete Changes in Energy Metabolism
- (2019) Ryan P. McMillan et al. Scientific Reports
- Mitochondrial disease genetics update
- (2018) Elizabeth M. McCormick et al. CURRENT OPINION IN PEDIATRICS
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
- (2018) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology
- (2017) Ann E. Frazier et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations
- (2017) Wei Wei et al. PLoS Genetics
- Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity
- (2016) Alberto Cruz-Bermúdez et al. PLoS One
- Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
- (2015) Gráinne S. Gorman et al. ANNALS OF NEUROLOGY
- 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
- DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
- (2013) Eugene Bragin et al. NUCLEIC ACIDS RESEARCH
- From Ontology to Semantic Similarity: Calculation of Ontology-Based Semantic Similarity
- (2013) Mingxin Gan et al. TheScientificWorldJOURNAL
- The m.3291T>C mt-tRNALeu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease
- (2012) John W. Yarham et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations
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- Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
- (2009) Sebastian Köhler et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exaggerated status of “novel” and “pathogenic” mtDNA sequence variants due to inadequate database searches
- (2008) Hans-Jürgen Bandelt et al. HUMAN MUTATION
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