Richard G H Cotton

Richard G H Cotton

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Richard G H Cotton

Richard G H Cotton

Publications by authors named "Richard G H Cotton"

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Capture of somatic mtDNA point mutations with severe effects on oxidative phosphorylation in synaptosome cybrid clones from human brain.

Hum Mutat 2014 Dec;35(12):1476-84

Centre for Genetic Diseases, MIMR-PHI Institute of Medical Research, Monash University, Clayton, Victoria, 3168, Australia; Monash University, Clayton, Victoria, 3168, Australia.

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http://dx.doi.org/10.1002/humu.22694DOI Listing
December 2014

Coping with esophageal cancer approaches worldwide.

Ann N Y Acad Sci 2014 Sep;1325:138-58

Human Variome Project International Limited, Department of Pathology, Florey Neuroscience Institutes, The University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1111/nyas.12522DOI Listing
September 2014

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

Hum Mutat 2013 Jul 1;34(7):927-36. Epub 2013 May 1.

University Children's Hospital, Zürich, Switzerland.

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http://dx.doi.org/10.1002/humu.22320DOI Listing
July 2013

The Human Variome Project Beijing meeting.

J Med Genet 2012 Apr;49(4):284-9

Human Variome Project International Ltd, Melbourne,Victoria, Australia.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2012-100862
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http://dx.doi.org/10.1136/jmedgenet-2012-100862DOI Listing
April 2012

Guidelines for establishing locus specific databases.

Hum Mutat 2012 Feb 9;33(2):298-305. Epub 2011 Dec 9.

Institute of Biomedical Technology, University of Tampere, Finland.

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http://dx.doi.org/10.1002/humu.21646DOI Listing
February 2012

Rare disease registries and mutation/variation databases.

Hum Mutat 2011 Oct;32(10):1073-4

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http://dx.doi.org/10.1002/humu.21596DOI Listing
October 2011

Initiating a Human Variome Project Country Node.

Hum Mutat 2011 May 29;32(5):501-6. Epub 2011 Mar 29.

Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1002/humu.21463DOI Listing
May 2011

Early hippocampal oxidative stress is a direct consequence of seizures in the rapid electrical amygdala kindling model.

Epilepsy Res 2010 Aug 6;90(3):285-94. Epub 2010 Jul 6.

Genomic Disorders Research Centre, University of Melbourne, Carlton South, VIC, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2010.06.005DOI Listing
August 2010

The mutome and the 100,000 mutation milestone.

Hum Mutat 2010 Jun;31(6)

Genomic Disorders Research Centre, Melbourne.

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http://dx.doi.org/10.1002/humu.21290DOI Listing
June 2010

Reducing the burden of inherited disease: the Human Variome Project.

Med J Aust 2010 Jun;192(11):628-9

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June 2010

Database overkill.

Hum Mutat 2010 Jan;31(1)

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http://dx.doi.org/10.1002/humu.21164DOI Listing
January 2010

The chemical cleavage of mismatch for the detection of mutations in long DNA fragments.

Methods Mol Biol 2009 ;578:223-34

Ludwig Institute for Cancer Research, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1007/978-1-60327-411-1_14DOI Listing
December 2009

Mismatch oxidation assay: detection of DNA mutations using a standard UV/Vis microplate reader.

Methods Mol Biol 2009 ;578:235-42

Ludwig Institute for Cancer Research, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1007/978-1-60327-411-1_15DOI Listing
December 2009

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
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http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

In memoriam: Victor A. McKusick (1921-2008).

Hum Mutat 2008 Oct;29(10):1169-70

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http://dx.doi.org/10.1002/humu.20890DOI Listing
October 2008

VariVis: a visualisation toolkit for variation databases.

BMC Bioinformatics 2008 Apr 23;9:206. Epub 2008 Apr 23.

Genomic Disorders Research Centre, Carlton South, VIC 3053, Australia.

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http://dx.doi.org/10.1186/1471-2105-9-206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375904PMC
April 2008

Human Variome Project: an international collaboration to catalogue human genetic variation.

Pharmacogenomics 2006 Oct;7(7):969-72

Division of Clinical Pharmacology, University of California, San Francisco, CA 94143, USA.

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https://www.futuremedicine.com/doi/10.2217/14622416.7.7.969
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http://dx.doi.org/10.2217/14622416.7.7.969DOI Listing
October 2006

Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC.

Ophthalmic Genet 2006 Jun;27(2):43-9

Genomic Disorders Research Centre, St. Vincent's Hospital, Victoria, Australia.

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http://dx.doi.org/10.1080/13816810600677834DOI Listing
June 2006

Spontaneous DNA-DNA interaction of homologous duplexes and factors affecting the result of heteroduplex formation.

Biol Chem 2006 Mar;387(3):257-61

Institute of Carcinogenesis, Blokhin Cancer Research Centre, Russian Academy of Medical Sciences, Kashirskoye Shosse 24, Moscow 115478, Russia.

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http://dx.doi.org/10.1515/BC.2006.034DOI Listing
March 2006

Detection of 100% of mutations in 124 individuals using a standard UV/Vis microplate reader: a novel concept for mutation scanning.

Nucleic Acids Res 2006 Mar 22;34(6):e45. Epub 2006 Mar 22.

Genomic Disorders Research Centre Fitzroy, Victoria 3065, Australia.

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http://dx.doi.org/10.1093/nar/gkl077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1409816PMC
March 2006

Human mutation databases.

Hum Genomics 2006 Mar;2(5):272; author reply 272-3

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500176PMC
March 2006

Locus-specific databases: from ethical principles to practice.

Hum Mutat 2005 Nov;26(5):489-93

Genomic Disorders Research Centre, Melbourne, Australia.

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http://doi.wiley.com/10.1002/humu.20245
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http://dx.doi.org/10.1002/humu.20245DOI Listing
November 2005

A call for mutations.

Genet Med 2005 May-Jun;7(5):370

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http://dx.doi.org/10.1097/01.GIM.0000164550.87307.11DOI Listing
August 2005

Human mutation databases.

Curr Protoc Bioinformatics 2005 Apr;Chapter 1:Unit 1.10

Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne Fitzroy, Australia.

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http://dx.doi.org/10.1002/0471250953.bi0110s9DOI Listing
April 2005

Human mutation databases.

Curr Protoc Hum Genet 2005 Feb;Chapter 7:Unit 7.11

Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne Fitzroy, Australia.

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http://dx.doi.org/10.1002/0471142905.hg0711s44DOI Listing
February 2005

The WayStation: the novel way for the collection of pancreatitis-associated mutations.

Pancreatology 2004 12;4(3-4):249-50. Epub 2004 May 12.

Universitätsklinikum Leipzig, Medizinische Klinik und Poliklinik II, Leipzig, Germany.

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http://dx.doi.org/10.1159/000078436DOI Listing
December 2004

Expression of truncated presenilin 2 splice variant in Alzheimer's disease, bipolar disorder, and schizophrenia brain cortex.

Brain Res Mol Brain Res 2004 Aug;127(1-2):128-35

Department of Pathology, The University of Melbourne, and The Mental Health Research Institute of Victoria, Grattan St., Parkville, Victoria 3010, Australia.

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http://dx.doi.org/10.1016/j.molbrainres.2004.05.019DOI Listing
August 2004

The challenge of documenting mutation across the genome: the human genome variation society approach.

Hum Mutat 2004 May;23(5):447-52

Genomic Disorders Research Centre, Melbourne, Australia.

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http://dx.doi.org/10.1002/humu.20038DOI Listing
May 2004

UV-visible spectral identification of the solution-phase and solid-phase permanganate oxidation reactions of thymine acetic acid.

Bioorg Med Chem Lett 2004 Mar;14(5):1313-5

Genomic Disorders Research Centre and the University of Melbourne, 7th Floor, Daly Wing, St. Vincent Hospital, 35 Victoria Parade, Fitzroy, Melbourne, Victoria 3065, Australia.

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http://dx.doi.org/10.1016/j.bmcl.2003.12.070DOI Listing
March 2004

Spectroscopic study of permanganate oxidation reactions of oligonucleotides containing single base mismatches.

Biopolymers 2003 Dec;70(4):628-36

Genomic Disorders Research Centre, University of Melbourne, 7th Floor, Daly Wing, St. Vincent Hospital, 35 Victoria Parade, Fitzroy, Melbourne, Victoria 3065, Australia.

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http://dx.doi.org/10.1002/bip.10543DOI Listing
December 2003

Permanganate oxidation reactions of DNA: perspective in biological studies.

Nucleosides Nucleotides Nucleic Acids 2003 Sep;22(9):1835-55

Genomic Disorders Research Centre, The University of Melbourne, St. Vincent Hospital, Fitzroy, Melbourne, Australia.

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http://dx.doi.org/10.1081/NCN-120023276DOI Listing
September 2003

Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms.

Hum Mutat 2003 Jun;21(6):557-68

Genomic Disorders Research Centre, St. Vincent's Hospital, Fitzroy, Victoria, Australia.

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http://doi.wiley.com/10.1002/humu.10213
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http://dx.doi.org/10.1002/humu.10213DOI Listing
June 2003

Detection of mutations in DNA by solid-phase chemical cleavage method. A simplified assay.

Methods Mol Biol 2003 ;212:59-70

Genomic Disorders Research Centre, St. Vincent's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1385/1-59259-327-5:059DOI Listing
May 2003

Plastic contaminant masquerades as DNA in mutation detection by denaturing HPLC.

Biotechniques 2003 Jan;34(1):59-60

Department of Medicine, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.2144/03341bm09DOI Listing
January 2003

Site-selective reactions of imperfectly matched DNA with small chemical molecules: applications in mutation detection.

Bioorg Chem 2002 Aug;30(4):216-32

Genomic Disorders Research Centre, The University of Melbourne, 7th Floor, Daly Wing, 35 Victoria Parade, Fitzroy, Vic 3065, Melbourne, Australia.

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August 2002

Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases.

Genome Res 2002 May;12(5):680-8

Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, Fitzroy VIC 3065, Australia.

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http://dx.doi.org/10.1101/gr.217702DOI Listing
May 2002

Alternative transcripts of presenilin-1 associated with frontotemporal dementia.

Neuroreport 2002 Apr;13(5):719-23

Department of Pathology, The University of Melbourne, and Mental Health Research Institute, Parkville, Victoria 3010, Australia.

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http://dx.doi.org/10.1097/00001756-200204160-00036DOI Listing
April 2002

Comparative study of permanganate oxidation reactions of nucleotide bases by spectroscopy.

Bioorg Chem 2002 Apr;30(2):133-7

Genomic Disorders Research Centre, University of Melbourne, 7th Floor, Daly Wing, 41 Victoria Parade, Fitzroy, Melbourne, Victoria 3065, Australia.

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http://dx.doi.org/10.1006/bioo.2002.1238DOI Listing
April 2002

Communicating "mutation:" Modern meanings and connotations.

Hum Mutat 2002 Jan;19(1):2-3

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http://dx.doi.org/10.1002/humu.10029DOI Listing
January 2002