Research Topics
| R G H CottonSummaryAffiliation: University of Melbourne Country: Australia Publications
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Detail Information
Publications
Detection of 100% of mutations in 124 individuals using a standard UV/Vis microplate reader: a novel concept for mutation scanningTania Tabone
Genomic Disorders Research Centre Fitzroy, Victoria 3065, Australia
Nucleic Acids Res 34:e45. 2006....- VariVis: a visualisation toolkit for variation databasesTimothy D Smith
Genomic Disorders Research Centre, Carlton South, VIC 3053, Australia
BMC Bioinformatics 9:206. 2008..While developed with the goal of improving the utility of human variation databases, the VariVis package can be used in any variation database to enhance utilisation of, and access to, critical information... - Locus-specific databases: from ethical principles to practiceRichard G H Cotton
Genomic Disorders Research Centre, Melbourne, Australia
Hum Mutat 26:489-93. 2005..It aims to translate them into 12 proposed practical guidelines that LSDB curators can use in collecting data for clinical research. Perhaps these guideposts will serve as a first step toward translating principles into practice... - Recommendations of the 2006 Human Variome Project meetingRichard G H Cotton
Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, 35 Victoria Parade, Melbourne, Victoria 3065, Australia
Nat Genet 39:433-6. 2007..Here we summarize the background of the project, the meeting and its recommendations... - A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databasesR G H Cotton
Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, Fitzroy, Victoria, Australia
Hum Mutat 28:931-2. 2007..2007]. We call for comment and collaboration in this article... - Recommendations for locus-specific databases and their curationR G H Cotton
Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, Australia
Hum Mutat 29:2-5. 2008..This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome... - GENETICS. The Human Variome ProjectRichard G H Cotton
Genomic Disorders Research Centre, Howard Florey Institute, Melbourne, Australia
Science 322:861-2. 2008..An ambitious plan to collect, curate, and make accessible information on genetic variations affecting human health is beginning to be realized... - Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome ProjectRichard G H Cotton
Genomic Disorders Research Centre, Melbourne, Australia
Genet Med 11:843-9. 2009..This manuscript discusses how collection of such data may be facilitated through new software and strategies in the clinical genetics and diagnostic laboratory communities... - Human mutation databasesOurania Horaitis
Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne Fitzroy, Australia
Curr Protoc Bioinformatics . 2005..The second section deals with submitting data. The third part provides guidance for accessing mutation data. The final section offers advice on database construction... - The HUGO Mutation Database Initiative. Human Genome OrganizationR G H Cotton
Genomic Disorders Research Centre, St Vincent's Hospital Melbourne, Fitzroy, Australia
Pharmacogenomics J 2:16-9. 2002 - The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards"Heather J Howard
Genomic Disorders Research Centre, Carlton South, Victoria, Australia
Hum Mutat 31:366-7. 2010..Methods for researchers to receive credit for their effort at mutation detection were also discussed... - Site-selective reactions of imperfectly matched DNA with small chemical molecules: applications in mutation detectionChinh T Bui
Genomic Disorders Research Centre, The University of Melbourne, 7th Floor, Daly Wing, 35 Victoria Parade, Fitzroy, VIC 3065, Melbourne, Australia
Bioorg Chem 30:216-32. 2002.... - Detection of mutations in DNA by solid-phase chemical cleavage method. A simplified assayChinh T Bui
Genomic Disorders Research Centre, St. Vincent's Hospital, Melbourne, Victoria, Australia
Methods Mol Biol 212:59-70. 2003 - Comparative study of permanganate oxidation reactions of nucleotide bases by spectroscopyChinh T Bui
Genomic Disorders Research Centre, University of Melbourne, 7th Floor, Daly Wing, 41 Victoria Parade, Fitzroy, Melbourne, Victoria 3065, Australia
Bioorg Chem 30:133-7. 2002..The reaction was highly selective toward thymine and uracil, less with cytosine, very little reaction on guanine, and no reaction on adenine... - Permanganate oxidation reactions of DNA: perspective in biological studiesChinh T Bui
Genomic Disorders Research Centre, The University of Melbourne, St Vincent Hospital, Fitzroy, Melbourne, Australia
Nucleosides Nucleotides Nucleic Acids 22:1835-55. 2003..This paper aims to review the usefulness and limitations of the permanganate oxidation reaction used in various biological studies of DNA... - UV-visible spectral identification of the solution-phase and solid-phase permanganate oxidation reactions of thymine acetic acidChinh T Bui
Genomic Disorders Research Centre and the University of Melbourne, 7th Floor, Daly Wing, St Vincent Hospital, 35 Victoria Parade, Fitzroy, Melbourne, Victoria 3065, Australia
Bioorg Med Chem Lett 14:1313-5. 2004..This result enables unambiguous interpretation of the absorbance change at 420 nm, as the intermediate permanganate ions could be isolated on the solid supports... - Spectroscopic study of permanganate oxidation reactions of oligonucleotides containing single base mismatchesChinh T Bui
Genomic Disorders Research Centre, University of Melbourne, 7th Floor, Daly Wing, St Vincent Hospital, 35 Victoria Parade, Fitzroy, Melbourne, Victoria 3065, Australia
Biopolymers 70:628-36. 2003.... - The chemical cleavage of mismatch for the detection of mutations in long DNA fragmentsTania Tabone
Ludwig Institute for Cancer Research, Parkville, Victoria, Australia
Methods Mol Biol 578:223-34. 2009..Cleavage products are separated by electrophoresis, revealing the identity and location of the mutation. The chemical cleavage of mismatch method can efficiently detect point mutations as well as insertions and deletions... - Mismatch oxidation assay: detection of DNA mutations using a standard UV/Vis microplate readerTania Tabone
Ludwig Institute for Cancer Research, Parkville, Victoria, Australia
Methods Mol Biol 578:235-42. 2009.... - The challenge of documenting mutation across the genome: the human genome variation society approachOurania Horaitis
Genomic Disorders Research Centre, Melbourne, Australia
Hum Mutat 23:447-52. 2004..Other projects, such as dedicated specialized software for LSDBs, are in the early stages of development... - Time for a unified system of mutation description and reporting: a review of locus-specific mutation databasesMireille Claustres
Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, Fitzroy VIC 3065, Australia
Genome Res 12:680-8. 2002..We hope the interested community and granting bodies will assist in achieving the vision of a public system that collects and displays all variants discovered... - Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphismsPaula J Bray
Genomic Disorders Research Centre, St Vincent s Hospital, Fitzroy, Victoria, Australia
Hum Mutat 21:557-68. 2003..Mutation and polymorphism data for NR3C1 will soon be found on the newly created locus-specific database... - Plastic contaminant masquerades as DNA in mutation detection by denaturing HPLCEric M Glare
Department of Medicine, University of Melbourne, Melbourne, Australia
Biotechniques 34:59-60. 2003 - Human mutation databasesOurania Horaitis
Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne Fitzroy, Australia
Curr Protoc Hum Genet . 2005..The second section deals with submitting data. The third part provides guidance for accessing mutation data. The final section offers advice on database construction... - Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLCGeorgina B Sallmann
Genomic Disorders Research Centre, St Vincent s Hospital, Victoria, Australia
Ophthalmic Genet 27:43-9. 2006..Some subjects with nystagmus lack convincing signs of albinism, have no other visual pathway disease, and are classified as possessing congenital idiopathic nystagmus (CN). It has been postulated that CN may be a form of ocular albinism... - A database of locus-specific databasesOurania Horaitis
Nat Genet 39:425. 2007 - Spontaneous DNA-DNA interaction of homologous duplexes and factors affecting the result of heteroduplex formationAnna A Neschastnova
Institute of Carcinogenesis, Blokhin Cancer Research Centre, Russian Academy of Medical Sciences, Kashirskoye shosse 24, Moscow 115478, Russia
Biol Chem 387:257-61. 2006..This provides the theoretical background for further optimisation of the procedure... - A survey of locus-specific database curation. Human Genome Variation SocietyRichard G H Cotton
J Med Genet 44:e72. 2007..4. Hits per week on the website should be recorded to allow the importance of the site to be illustrated for grant-giving purposes. 5. Published protocols should be followed in the establishment of locus-specific databases... - The WayStation: the novel way for the collection of pancreatitis-associated mutationsNiels Teich
, Medizinische Klinik und Poliklinik II, Leipzig, Germany
Pancreatology 4:249-50. 2004 - Human Variome Project: an international collaboration to catalogue human genetic variationHuijun Z Ring
Division of Clinical Pharmacology, University of California, San Francisco, CA 94143, USA
Pharmacogenomics 7:969-72. 2006 - Mutations causing inherited disease and cancer affect individuals and familiesRichard G H Cotton
Genet Med 8:389. 2006 - A call for mutationsRichard G H Cotton
Genet Med 7:370. 2005 - Human mutation databasesRichard G H Cotton
Hum Genomics 2:272; author reply 272-3. 2006