R
Richard Mott
Researcher at University College London
Publications - 218
Citations - 42376
Richard Mott is an academic researcher from University College London. The author has contributed to research in topics: Quantitative trait locus & Population. The author has an hindex of 74, co-authored 208 publications receiving 39696 citations. Previous affiliations of Richard Mott include Cancer Research UK & Lincoln's Inn.
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Journal ArticleDOI
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
Marcy E. MacDonald,Christine Ambrose,Mabel P. Duyao,Richard H. Myers,Carol Lin,Lakshmi Srinidhi,Glenn Barnes,Sherryl A.M. Taylor,Marianne James,Nicolet Groot,Heather MacFarlane,Barbara Jenkins,Mary Anne Anderson,Nancy S. Wexler,James F. Gusella,Gillian P. Bates,Sarah Baxendale,Holger Hummerich,Susan F. Kirby,Mike North,S. Youngman,Richard Mott,Günther Zehetner,Zdenek Sedlacek,Annemarie Poustka,Anna-Maria Frischauf,Hans Lehrach,Alan Buckler,Deanna M. Church,Lynn Doucette-Stamm,Michael Conlon O'Donovan,Laura Riba-Ramirez,Manish A. Shah,Vincent P. Stanton,Scott A. Strobel,Karen M. Draths,Jennifer L. Wales,Peter B. Dervan,David E. Housman,Michael R. Altherr,Rita Shiang,Leslie M. Thompson,Thomas J. Fielder,John J. Wasmuth,Danilo A. Tagle,John Valdes,Lawrence W. Elmer,Marc W. Allard,Lucio H. Castilla,Manju Swaroop,Kris Blanchard,Francis S. Collins,Russell G. Snell,Tracey Holloway,Kathleen Gillespie,Nicole A. Datson,Duncan Shaw,Peter S. Harper +57 more
TL;DR: In this article, the authors used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect, which is expanded and unstable on HD chromosomes.
Journal Article
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.
Manish A. Shah,Nicole A. Datson,Lakshmi Srinidhi,Vincent P. Stanton,Marcy E. MacDonald,Marc W. Allard,S. Youngman,Anna-Maria Frischauf,Richard Mott,KM Draths,Günther Zehetner,C. O’Donovan,Thomas J. Fielder,Bruce G. Jenkins,Manju Swaroop,Sherryl A.M. Taylor,Lynn Doucette-Stamm,Heather MacFarlane,Scott A. Strobel,H. E. McFarlane,Alan Buckler,Nicolet Groot,Holger Hummerich,Deanna M. Church,M. A. Anderson,Marianne James,Glenn Barnes,M. Christine,Francis S. Collins,Mabel P. Duyao,Peter B. Dervan,Gillian P. Bates,T Holloway,Peter S. Harper,TW Mcdonald,M North,K Blanchard,John J. Wasmuth,D. Shaw,Hans Lehrach,Danilo A. Tagle,Annemarie Poustka,David E. Housman,T. Huntington,Zdenek Sedlacek,Laura Riba,Susan F. Kirby,Carol Lin,Richard H. Myers,Leslie M. Thompson,Russell G. Snell,Michael Conlon O'Donovan,K Gillespie,Rita Shiang,Nancy S. Wexler,Christine Ambrose,J. F. Gusella,Sarah Baxendale,N. Groat,John Valdes +59 more
TL;DR: The Huntington's disease mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype.
Journal ArticleDOI
Initial sequencing and comparative analysis of the mouse genome.
Robert H. Waterston,Kerstin Lindblad-Toh,Ewan Birney,Jane Rogers,Josep F. Abril,Pankaj K. Agarwal,Richa Agarwala,Rachel Ainscough,Marina Alexandersson,Peter An,Stylianos E. Antonarakis,John Attwood,Robert Baertsch,J Bailey,K F Barlow,Stephan Beck,Eric Berry,Bruce W. Birren,Toby Bloom,Peer Bork,Marc Botcherby,Nicolas Bray,Michael R. Brent,Daniel G. Brown,Daniel G. Brown,Stephen D. Brown,Carol J. Bult,John Burton,Jonathan Butler,R. D. Campbell,Piero Carninci,Simon Cawley,Francesca Chiaromonte,Asif T. Chinwalla,Deanna M. Church,Michele Clamp,C M Clee,Francis S. Collins,Lisa Cook,Richard R. Copley,Alan Coulson,Olivier Couronne,James Cuff,Val Curwen,Tim Cutts,Mark J. Daly,Robert David,Joy Davies,Kimberly D. Delehaunty,Justin Deri,Emmanouil T. Dermitzakis,Colin N. Dewey,Nicholas J. Dickens,Mark Diekhans,Sheila Dodge,Inna Dubchak,Diane M. Dunn,Sean R. Eddy,Laura Elnitski,Richard D. Emes,Pallavi Eswara,Eduardo Eyras,Adam Felsenfeld,Ginger A. Fewell,Paul Flicek,Karen Foley,Wayne N. Frankel,Lucinda Fulton,Robert S. Fulton,Terrence S. Furey,Diane Gage,Richard A. Gibbs,Gustavo Glusman,Sante Gnerre,Nick Goldman,Leo Goodstadt,Darren Grafham,Tina Graves,Eric D. Green,Simon G. Gregory,Roderic Guigó,Mark S. Guyer,Ross C. Hardison,David Haussler,Yoshihide Hayashizaki,Deana W. LaHillier,Angela S. Hinrichs,Wratko Hlavina,Timothy Holzer,Fan Hsu,Axin Hua,Tim Hubbard,Adrienne Hunt,Ian J. Jackson,David B. Jaffe,L. Steven Johnson,Matthew Jones,Thomas A. Jones,A Joy,Michael Kamal,Elinor K. Karlsson,Donna Karolchik,Arkadiusz Kasprzyk,Jun Kawai,Evan Keibler,Cristyn Kells,W. James Kent,Andrew Kirby,Diana L. Kolbe,Ian F Korf,Raju Kucherlapati,Edward J. Kulbokas,David Kulp,Tom Landers,J. P. Leger,Steven Leonard,Ivica Letunic,Rosie Levine,Jia Li,Ming Li,Christine Lloyd,Susan Lucas,Bin Ma,Donna Maglott,Elaine R. Mardis,Lucy Matthews,Evan Mauceli,John Mayer,Megan McCarthy,W. Richard McCombie,Stuart McLaren,Kirsten McLay,John Douglas Mcpherson,James Meldrim,Beverley Meredith,Jill P. Mesirov,Webb Miller,Tracie L. Miner,Emmanuel Mongin,Kate Montgomery,Michael J. Morgan,Richard Mott,James C. Mullikin,Donna M. Muzny,William E. Nash,Joanne O. Nelson,Michael N. Nhan,Robert Nicol,Zemin Ning,Chad Nusbaum,Michael J. O’Connor,Yasushi Okazaki,Karen Oliver,Emma Overton-Larty,Lior Pachter,Genís Parra,Kymberlie H. Pepin,Jane Peterson,Pavel A. Pevzner,Robert W. Plumb,Craig Pohl,Alex Poliakov,Tracy C. Ponce,Chris P. Ponting,Simon C. Potter,Michael A. Quail,Alexandre Reymond,Bruce A. Roe,Krishna M. Roskin,Edward M. Rubin,Alistair G. Rust,Ralph Santos,Victor Sapojnikov,Brian Schultz,Jörg Schultz,Matthias S. Schwartz,Scott Schwartz,Carol Scott,Steven Seaman,Steve Searle,Ted Sharpe,Andrew Sheridan,Ratna Shownkeen,Sarah Sims,Jonathan Singer,Guy Slater,Arian F.A. Smit,Douglas Smith,Brian Spencer,Arne Stabenau,Nicole Stange-Thomann,Charles W. Sugnet,Mikita Suyama,Glenn Tesler,Johanna Thompson,David Torrents,Evanne Trevaskis,John Tromp,Catherine Ucla,Abel Ureta-Vidal,Jade P. Vinson,Andrew von Niederhausern,Claire M. Wade,Melanie M. Wall,R. J. Weber,Robert B. Weiss,Michael C. Wendl,Anthony P. West,Kris A. Wetterstrand,Raymond Wheeler,Simon Whelan,Jamey Wierzbowski,David Willey,Sophie Williams,Richard K. Wilson,Eitan E. Winter,Kim C. Worley,Dudley Wyman,Shan Yang,Shiaw Pyng Yang,Evgeny M. Zdobnov,Michael C. Zody,Eric S. Lander +222 more
TL;DR: The results of an international collaboration to produce a high-quality draft sequence of the mouse genome are reported and an initial comparative analysis of the Mouse and human genomes is presented, describing some of the insights that can be gleaned from the two sequences.
Journal ArticleDOI
Mouse genomic variation and its effect on phenotypes and gene regulation
Thomas M. Keane,Leo Goodstadt,Petr Danecek,Michael A. White,Kim Wong,Binnaz Yalcin,Andreas Heger,Avigail Agam,Avigail Agam,Guy Slater,Martin Goodson,Nick Furlotte,Eleazar Eskin,Christoffer Nellåker,Helen Whitley,James Cleak,Deborah Janowitz,Deborah Janowitz,Polinka Hernandez-Pliego,Andrew Edwards,T G Belgard,Peter L. Oliver,Rebecca E. McIntyre,Amarjit Bhomra,Jérôme Nicod,Xiangchao Gan,Wei Yuan,L van der Weyden,Charles A. Steward,Sendu Bala,Jim Stalker,Richard Mott,Richard Durbin,Ian J. Jackson,Anne Czechanski,José Afonso Guerra-Assunção,Leah Rae Donahue,Laura G. Reinholdt,Bret A. Payseur,Chris P. Ponting,Ewan Birney,Jonathan Flint,David J. Adams +42 more
TL;DR: These sequences provide a starting point for a new era in the functional analysis of a key model organism and show that the molecular nature of functional variants and their position relative to genes vary according to the effect size of the locus.
Journal ArticleDOI
The Collaborative Cross, a community resource for the genetic analysis of complex traits
Gary A. Churchill,David C. Airey,Hooman Allayee,Joe M. Angel,Alan D. Attie,Jackson Beatty,Willam D. Beavis,John K. Belknap,Beth Bennett,Wade H. Berrettini,André Bleich,Molly A. Bogue,Karl W. Broman,Kari J. Buck,Edward S. Buckler,Margit Burmeister,Elissa J. Chesler,James M. Cheverud,Steven J. Clapcote,Melloni N. Cook,Roger D. Cox,John C. Crabbe,Wim E. Crusio,Ariel Darvasi,Christian F. Deschepper,Rebecca W. Doerge,Charles R. Farber,Jiri Forejt,Daniel Gaile,Steven J. Garlow,Hartmut Geiger,Howard K. Gershenfeld,Terry Gordon,Jing Gu,Weikuan Gu,Gerald de Haan,Nancy L. Hayes,Craig Heller,Heinz Himmelbauer,Robert Hitzemann,Kent W. Hunter,Hui-Chen Hsu,Fuad A. Iraqi,Boris Ivandic,Howard J. Jacob,Ritsert C. Jansen,Karl J. Jepsen,Dabney K. Johnson,Thomas E. Johnson,Gerd Kempermann,Christina Kendziorski,Malak Kotb,R. Frank Kooy,Bastien Llamas,Frank Lammert,J. M. Lassalle,Pedro R. Lowenstein,Lu Lu,Aldons J. Lusis,Kenneth F. Manly,Ralph S. Marcucio,Doug Matthews,Juan F. Medrano,Darla R. Miller,Guy Mittleman,Beverly A. Mock,Jeffrey S. Mogil,Xavier Montagutelli,Grant Morahan,David G. Morris,Richard Mott,Joseph H. Nadeau,Hiroki Nagase,Richard S. Nowakowski,Bruce F. O'Hara,Alexander V. Osadchuk,Grier P. Page,Beverly Paigen,Kenneth Paigen,Abraham A. Palmer,Huei Ju Pan,Leena Peltonen-Palotie,Leena Peltonen-Palotie,Jeremy L. Peirce,Daniel Pomp,Michal Pravenec,Daniel R. Prows,Zonghua Qi,Roger H. Reeves,John C. Roder,Glenn D. Rosen,Eric E. Schadt,Leonard C. Schalkwyk,Ze'ev Seltzer,Kazuhiro Shimomura,Siming Shou,Mikko J. Sillanpää,Linda D. Siracusa,Hans-Willem Snoeck,Jimmy L. Spearow,Karen L. Svenson,Lisa M. Tarantino,David W. Threadgill,Linda A. Toth,William Valdar,Fernando Pardo-Manuel de Villena,Craig H Warden,Steve Whatley,Robert W. Williams,Tom Wiltshire,Nengjun Yi,Dabao Zhang,Min Zhang,Fei Zou +113 more
TL;DR: The Collaborative Cross will provide a common reference panel specifically designed for the integrative analysis of complex systems and will change the way the authors approach human health and disease.