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Annemarie Poustka
Researcher at Max Planck Society
Publications - 17
Citations - 15487
Annemarie Poustka is an academic researcher from Max Planck Society. The author has contributed to research in topics: Complementary DNA & Restriction enzyme. The author has an hindex of 10, co-authored 17 publications receiving 14998 citations. Previous affiliations of Annemarie Poustka include Lincoln's Inn & European Bioinformatics Institute.
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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
A physical map of the human genome.
John Douglas Mcpherson,Marco A. Marra,Marco A. Marra,LaDeana W. Hillier,Robert H. Waterston,Asif T. Chinwalla,John W. Wallis,Mandeep Sekhon,Kristine M. Wylie,Elaine R. Mardis,Richard K. Wilson,Robert S. Fulton,Tamara A. Kucaba,Caryn Wagner-McPherson,William B. Barbazuk,Simon G. Gregory,Sean Humphray,Lisa French,R Evans,Graeme Bethel,Adam Whittaker,Jane L. Holden,Owen T. McCann,Andrew Dunham,Carol Soderlund,Carol Scott,David R. Bentley,Gregory D. Schuler,Hsiu Chuan Chen,Wonhee Jang,Eric D. Green,Jacquelyn R. Idol,Valerie Maduro,Kate Montgomery,Eunice Lee,Ashley Miller,Suzanne Emerling,Raju Kucherlapati,Richard A. Gibbs,Steve Scherer,J. Harley Gorrell,Erica Sodergren,Kerstin P. Clerc-Blankenburg,Paul E. Tabor,S. Naylor,Dawn Garcia,J. de Jong,J. de Jong,J. de Jong,Joseph J. Catanese,Joseph J. Catanese,Joseph J. Catanese,Norma J. Nowak,Kazutoyo Osoegawa,Kazutoyo Osoegawa,Kazutoyo Osoegawa,Shizhen Qin,Lee Rowen,Anuradha Madan,Monica Dors,Leroy Hood,Barbara J. Trask,Cynthia Friedman,Hillary Massa,Vivian G. Cheung,Ilan R. Kirsch,Thomas Reid,Raluca Yonescu,Jean Weissenbach,Thomas Brüls,Roland Heilig,Elbert Branscomb,Anne S. Olsen,Norman A. Doggett,Jan Fang Cheng,Trevor Hawkins,Richard M. Myers,Jin Shang,Lucía Ramírez,Jeremy Schmutz,Olivia Velasquez,Kami Dixon,Nancy E. Stone,David R. Cox,David Haussler,W. James Kent,Terrence S. Furey,Sanja Rogic,Scot Kennedy,Steven J.M. Jones,André Rosenthal,Gaiping Wen,Markus Schilhabel,Gernot Gloeckner,Gerald Nyakatura,Reiner Siebert,Brigitte Schlegelberger,Julie R. Korenberg,Xiao Ning Chen,Asao Fujiyama,Masahira Hattori,Atsushi Toyoda,Tetsushi Yada,Hong Seok Park,Yoshiyuki Sakaki,Nobuyoshi Shimizu,Shuichi Asakawa,Kazuhiko Kawasaki,Takashi Sasaki,Ai Shintani,Atsushi Shimizu,Kazunori Shibuya,Jun Kudoh,Shinsei Minoshima,Juliane Ramser,Peter Seranski,Céline Hoff,Annemarie Poustka,Richard Reinhardt,Hans Lehrach +119 more
TL;DR: The construction of the whole-genome bacterial artificial chromosome (BAC) map and its integration with previous landmark maps and information from mapping efforts focused on specific chromosomal regions are reported.
Journal ArticleDOI
Molecular approaches to mammalian genetics.
Annemarie Poustka,T. M. Pohl,Denise P. Barlow,Günther Zehetner,Alister Craig,Frank Michiels,E Ehrich,Anna-Maria Frischauf,Hans Lehrach +8 more
Journal ArticleDOI
Recombination Events Suggest Potential Sites for the Huntington's Disease Gene
Marcy E. MacDonald,Jonathan L. Haines,Michael Zimmer,Shirley V. Cheng,S. Youngman,W. Lance Whaley,Nancy S. Wexler,Maja Bucan,Bernice A. Allitto,Barbara Smith,Julie Leavitt,Annemarie Poustka,Peter S. Harper,Hans Lehrach,John J. Wasmuth,Anna Marie Frischauf,James F. Gusella +16 more
TL;DR: A fine-structure genetic map is produced that establishes the relative order of the clusters and further narrows the target area containing the HD gene.