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Richard G.H. Cotton

University of Melbourne
St. Vincent's Health System

206

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4555

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The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease

2015 Pediatric Nephrology
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Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

2015 Molecular Genetics and Metabolism
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DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.

2014 Pediatric Nephrology
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Coping with esophageal cancer approaches worldwide

2014 Annals of the New York Academy of Sciences
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Capture of Somatic mtDNA Point Mutations with Severe Effects on Oxidative Phosphorylation in Synaptosome Cybrid Clones from Human Brain

2014 Human Mutation
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Quality standards for DNA sequence variation databases to improve clinical management under development in Australia.

2014 Applied and Translational Genomics
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Getting ready for the human phenome project: the 2012 forum of the human variome project

2013 Human Mutation
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Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.

2013 Human Mutation
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Reporting of Genetic Variants by Diagnostic Laboratories and other Centres.

2012
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Guidelines for establishing locus specific databases

2012 Human Mutation
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Citations (46)