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- Good laboratory practice for clinical next-generation sequencing informatics pipelines.Nat Biotechnol. 2015; 33: 689-693
- Mitochondrial genetic medicine.Nat Genet. 2018; 50: 1642-1649
- Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.Cold Spring Harb Perspect Biol. 2013; 5: a021220
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- Targeted exome sequencing of suspected mitochondrial disorders.Neurology. 2013; 80: 1762-1770
- Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification.Biochim Biophys Acta. 2014; 1840: 1355-1359
- New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre.J Transl Med. 2016; 14: 174
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- HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor.Nucleic Acids Res. 2017; 45: D698-D706
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- 3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome.Hum Genome Var. 2019; 6: 28
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- Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.Genome Biol. 2017; 18: 225
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- MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants.Hum Mutat. 2015; 36: E2413-E2422
- MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing.Bioinformatics. 2014; 30: 3115-3117
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- Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP.PLoS Comput Biol. 2017; 13: e1005867
- PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations.Nucleic Acids Res. 2016; 44: 2020-2027
- The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.Mitochondrion. 2015; 25: 17-27
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- HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing.Nucleic Acids Res. 2016; 44: W58-W63
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- Expansion of the human phenotype ontology (HPO) knowledge base and resources.Nucleic Acids Res. 2019; 47: D1018-D1027
- Online mendelian inheritance in man (OMIM), a knowledgebase of human genes and genetic disorders.Nucleic Acids Res. 2015; 33: D514-D517
- The comparative toxicogenomics database's 10th year anniversary: update 2015.Nucleic Acids Res. 2015; 43: D914-D920
- The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.Nucleic Acids Res. 2017; 45: D712-D722
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- Next-generation diagnostics and disease-gene discovery with the Exomiser.Nat Protoc. 2015; 10: 2004-2015
- dbNSFP v3.0: a one-stop database of functional predictions and annotations for human non-synonymous and splice site SNVs.Hum Mutat. 2016; 37: 235-241
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