Richard G H Cotton

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Richard G H



Publications in SciGraph latest 50 shown

  • 2015-11 The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease in PEDIATRIC NEPHROLOGY
  • 2014-06 DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome in PEDIATRIC NEPHROLOGY
  • 2011-12 Mutation (variation) databases and registries: a rationale for coordination of efforts in NATURE REVIEWS GENETICS
  • 2011-12 Time and motion study of familial bowel and breast cancer gene mutational analysis in Victoria, Australia in HEREDITARY CANCER IN CLINICAL PRACTICE
  • 2011-12 InSiGHT leads in the implementation of the Human Variome Project in HEREDITARY CANCER IN CLINICAL PRACTICE
  • 2011-12 Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution in HUMAN GENOMICS
  • 2011-08 Call for participation in the neurogenetics consortium within the Human Variome Project in NEUROGENETICS
  • 2010-12 Response to Stenson et al. in Human GenomicsVol. 4, No. 2, pp. 69-72: 'The Human Gene Mutation Database: Providing a comprehensive central mutation database for molecular diagnostics and personalised genomics' in HUMAN GENOMICS
  • 2009-12 Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project in GENETICS IN MEDICINE
  • 2009-12 Collection of variation causing disease - The Human Variome Project in HUMAN GENOMICS
  • 2009 Mismatch Oxidation Assay: Detection of DNA Mutations Using a Standard UV/Vis Microplate Reader in SINGLE NUCLEOTIDE POLYMORPHISMS
  • 2009 The Chemical Cleavage of Mismatch for the Detection of Mutations in Long DNA Fragments in SINGLE NUCLEOTIDE POLYMORPHISMS
  • 2008-12 VariVis: a visualisation toolkit for variation databases in BMC BIOINFORMATICS
  • 2008-12 The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy in PEDIATRIC NEPHROLOGY
  • 2008-04-11 Suggested actions from the Melbourne HVP Information Seminar in NATURE PRECEDINGS
  • 2007-04 A database of locus-specific databases in NATURE GENETICS
  • 2006-12 Chemical cleavage of mismatch (CCM) to locate base mismatches in heteroduplex DNA in NATURE PROTOCOLS
  • 2006-07 Reply to Dr. Strom regarding “A call for mutations” in GENETICS IN MEDICINE
  • 2006-06 The role of phospholipases A2 in schizophrenia in MOLECULAR PSYCHIATRY
  • 2005-06 A call for mutations in GENETICS IN MEDICINE
  • 2003-12 Chemical cleavage reactions of DNA on solid support: application in mutation detection in BMC BIOCHEMISTRY
  • 2003-02 Mutations in the COL4A4 gene in thin basement membrane disease in KIDNEY INTERNATIONAL
  • 2003-01 The use of resolvases T4 endonuclease VII and T7 endonuclease I in mutation detection in MOLECULAR BIOTECHNOLOGY
  • 2002-10-07 Detection of Mutations in DNA by Solid-Phase Chemical Cleavage Method: A Simplified Assay in SINGLE NUCLEOTIDE POLYMORPHISMS
  • 2002-01 The HUGO Mutation Database Initiative in THE PHARMACOGENOMICS JOURNAL
  • 2002 Structure and Regulation of Phenylalanine Hydroxylase, and Implications for Related Enzymes in CHEMISTRY AND BIOLOGY OF PTERIDINES AND FOLATES
  • 2001-08 COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome1 in KIDNEY INTERNATIONAL
  • 2000-09 Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype–phenotype correlations in phenylketonuria in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000-07-07 The Use of Resolvases T4 Endonuclease VII and T7 Endonuclease I in Mutation Detection in DNA REPAIR PROTOCOLS
  • 2000-03-24 Detection of Mutations in DNA and RNA by Chemical Cleavage in NUCLEIC ACID PROTOCOLS HANDBOOK, THE
  • 2000-03 Correct Heteroduplex Formation for Mutation Detection Analysis in MOLECULAR DIAGNOSIS
  • 2000 Correct Heteroduplex Formation for Mutation Detection Analysis in MOLECULAR DIAGNOSIS
  • 1999-12 Spell-checking our genes: report from the symposium <i><b>Mutation Detection in Large Genes</b></i>, 14 May 1999, Vicoforte, Italy in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1999-05-01 Structural basis of autoregulation of phenylalanine hydroxylase in NATURE STRUCTURAL & MOLECULAR BIOLOGY
  • 1999-04 Genotype and Intellectual Phenotype in Untreated Phenylketonuria Patients in PEDIATRIC RESEARCH
  • 1997-11 Absence of common trifunctional protein mutation in patients with Alpers disease in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1997-09 Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients in HUMAN GENETICS
  • 1996-09 In vivo disposal of phenylalanine in phenylketonuria: A study of two siblings in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1995-12 Polymorphism in the 3′ untranslated region of the phenylalanine hydroxylase gene detected by enzyme mismatch cleavage: evolution of haplotypes in HUMAN GENETICS
  • 1993-09 Sequence conservation within neutralization epitope regions of VP 7 and VP 4 proteins of human serotype G 4 rotavirus isolates in ARCHIVES OF VIROLOGY
  • 1993-03 Intra- and inter-season genetic variability in the VP 7 gene of serotype 1 (monotype 1 a) rotavirus clinical isolates in ARCHIVES OF VIROLOGY
  • 1993-02 Catalytic Activity of Tetrahydrobiopterin in Dihydropteridine Reductase Deficiency and Indications for Treatment in PEDIATRIC RESEARCH
  • 1993 CYS →Ser Mutations in ch-Human Dihydropteridine Reductase in CHEMISTRY AND BIOLOGY OF PTERIDINES AND FOLATES
  • 1993 The Spectrum of Mutations in Dihydropteridine Reductase Deficiency in CHEMISTRY AND BIOLOGY OF PTERIDINES AND FOLATES
  • 1993 Structure Function Studies of the Phenylalanine Hydroxylase Active Site and a Summary of Structural Features in CHEMISTRY AND BIOLOGY OF PTERIDINES AND FOLATES
  • 1992-12 Atypical (Mild) Forms of Dihydropteridine Reductase Deficiency: Neurochemical Evaluation and Mutation Detection in PEDIATRIC RESEARCH
  • 1992-11 Brain stem serotonin-synthesizing neurons in Alzheimer's disease: a clinicopathological correlation in ACTA NEUROPATHOLOGICA
  • 1992-09 Phenylalanine hydroxylaselike antigen in human chorionic villi in BULLETIN OF EXPERIMENTAL BIOLOGY AND MEDICINE
  • 1992-09 CpG hotspot causes second mutation in codon 408 of the phenylalanine hydroxylase gene in HUMAN GENETICS
  • 1991-11 Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia in PEDIATRIC RESEARCH
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