P
Petra Nowotny
Researcher at Washington University in St. Louis
Publications - 45
Citations - 14407
Petra Nowotny is an academic researcher from Washington University in St. Louis. The author has contributed to research in topics: Single-nucleotide polymorphism & Genome-wide association study. The author has an hindex of 30, co-authored 45 publications receiving 13418 citations.
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Journal ArticleDOI
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Mike Hutton,Corinne Lendon,Patrizia Rizzu,Matt Baker,Susanne Froelich,Susanne Froelich,Henry Houlden,Stuart Pickering-Brown,Sumitra Chakraverty,Adrian M. Isaacs,Andrew Grover,J. Hackett,Jennifer Adamson,Sarah Lincoln,Dennis W. Dickson,Peter Davies,Ronald C. Petersen,M. Stevens,E. De Graaff,E. Wauters,J. Van Baren,M. Hillebrand,Marijke Joosse,J. M. Kwon,Petra Nowotny,Lien Kuei Che,Joanne Norton,John C. Morris,L. A. Reed,John Q. Trojanowski,Hans Basun,Lars Lannfelt,M. Neystat,Stanley Fahn,Frances Dark,Tony Tannenberg,Peter R. Dodd,Nicholas K. Hayward,John B.J. Kwok,Peter R. Schofield,Athena Andreadis,Julie S. Snowden,David Craufurd,David Neary,F. Owen,Ben A. Oostra,John Hardy,Alison Goate,J. C. van Swieten,David M. A. Mann,Timothy Lynch,Peter Heutink +51 more
TL;DR: In this paper, the authors sequenced tau in FTDP-17 families and identified three missense mutations (G272V, P301L and R406W) and three mutations in the 5' splice site of exon in
Journal ArticleDOI
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Denise Harold,Richard Abraham,Paul Hollingworth,Rebecca Sims,Amy Gerrish,Marian L. Hamshere,Jaspreet Singh Pahwa,Valentina Moskvina,Kimberley Dowzell,Amy L. Williams,Nicola L. Jones,Charlene Thomas,Alexandra Stretton,Angharad R. Morgan,Simon Lovestone,John Powell,Petroula Proitsi,Michelle K. Lupton,Carol Brayne,David C. Rubinsztein,Michael Gill,Brian A. Lawlor,Aoibhinn Lynch,Kevin Morgan,Kristelle Brown,Peter Passmore,David Craig,Bernadette McGuinness,Stephen Todd,Clive Holmes,David M. A. Mann,A. David Smith,Seth Love,Patrick G. Kehoe,John Hardy,Simon Mead,Nick C. Fox,Martin N. Rossor,John Collinge,Wolfgang Maier,Frank Jessen,Britta Schürmann,Hendrik van den Bussche,Isabella Heuser,Johannes Kornhuber,Jens Wiltfang,Martin Dichgans,Lutz Frölich,Harald Hampel,Harald Hampel,Michael Hüll,Dan Rujescu,Alison Goate,John S. K. Kauwe,Carlos Cruchaga,Petra Nowotny,John C. Morris,Kevin Mayo,Kristel Sleegers,Karolien Bettens,Sebastiaan Engelborghs,Peter Paul De Deyn,Christine Van Broeckhoven,Gill Livingston,Nicholas Bass,Hugh Gurling,Andrew McQuillin,Rhian Gwilliam,Panagiotis Deloukas,Ammar Al-Chalabi,Christopher Shaw,Magda Tsolaki,Andrew B. Singleton,Rita Guerreiro,Thomas W. Mühleisen,Markus M. Nöthen,Susanne Moebus,Karl-Heinz Jöckel,Norman Klopp,H-Erich Wichmann,Minerva M. Carrasquillo,V. Shane Pankratz,Steven G. Younkin,Peter Holmans,Michael Conlon O'Donovan,Michael John Owen,Julie Williams +86 more
TL;DR: A two-stage genome-wide association study of Alzheimer's disease involving over 16,000 individuals, the most powerful AD GWAS to date, produced compelling evidence for association with Alzheimer's Disease in the combined dataset.
Journal ArticleDOI
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
Paul Hollingworth,Denise Harold,Rebecca Sims,Amy Gerrish,Jean-Charles Lambert,Jean-Charles Lambert,Jean-Charles Lambert,Minerva M. Carrasquillo,Richard Abraham,Marian L. Hamshere,Jaspreet Singh Pahwa,Valentina Moskvina,Kimberley Dowzell,Nicola Jones,Alexandra Stretton,Charlene Thomas,Alexander Richards,Dobril Ivanov,Caroline S. Widdowson,Jade Chapman,Simon Lovestone,John Powell,Petroula Proitsi,Michelle K. Lupton,Carol Brayne,David C. Rubinsztein,Michael Gill,Brian A. Lawlor,Aoibhinn Lynch,Kristelle Brown,Peter Passmore,David Craig,Bernadette McGuinness,Stephen Todd,Clive Holmes,David M. A. Mann,A. David Smith,Helen Beaumont,Donald Warden,Gordon K. Wilcock,Seth Love,Patrick G. Kehoe,Nigel M. Hooper,Emma R L C Vardy,John Hardy,Simon Mead,Nick C. Fox,Martin N. Rossor,John Collinge,Wolfgang Maier,Frank Jessen,Eckart Rüther,Britta Schürmann,R. Heun,Heike Kölsch,Hendrik van den Bussche,Isabella Heuser,Johannes Kornhuber,Jens Wiltfang,Martin Dichgans,Lutz Frölich,Harald Hampel,John Gallacher,Michael Hüll,Dan Rujescu,Ina Giegling,Alison Goate,John S. K. Kauwe,Carlos Cruchaga,Petra Nowotny,John C. Morris,Kevin Mayo,Kristel Sleegers,Karolien Bettens,Sebastiaan Engelborghs,Peter Paul De Deyn,Christine Van Broeckhoven,Gill Livingston,Nicholas Bass,Hugh Gurling,Andrew McQuillin,Rhian Gwilliam,Panagiotis Deloukas,Ammar Al-Chalabi,Christopher Shaw,Magda Tsolaki,Andrew B. Singleton,Rita Guerreiro,Thomas W. Mühleisen,Markus M. Nöthen,Susanne Moebus,Karl-Heinz Jöckel,Norman Klopp,H.-Erich Wichmann,V. Shane Pankratz,Sigrid Botne Sando,Jan O. Aasly,Maria Barcikowska,Zbigniew K. Wszolek,Dennis W. Dickson,Neill R. Graff-Radford,Ronald C. Petersen,Cornelia M. van Duijn,Monique M.B. Breteler,M. Arfan Ikram,Anita L. DeStefano,Annette L. Fitzpatrick,Oscar L. Lopez,Lenore J. Launer,Sudha Seshadri,Claudine Berr,Dominique Campion,Jacques Epelbaum,Jean-François Dartigues,Christophe Tzourio,Annick Alpérovitch,Mark Lathrop,T. Feulner,Patricia Friedrich,Caterina Riehle,Michael Krawczak,Stefan Schreiber,Manuel Mayhaus,S. Nicolhaus,Stefan Wagenpfeil,Stacy Steinberg,Hreinn Stefansson,Kari Stefansson,Jon Snaedal,Sigurbjorn Bjornsson,Palmi V. Jonsson,Vincent Chouraki,Vincent Chouraki,Vincent Chouraki,Benjamin Genier-Boley,Benjamin Genier-Boley,Benjamin Genier-Boley,Mikko Hiltunen,Hilkka Soininen,Onofre Combarros,Diana Zelenika,Marc Delepine,María J. Bullido,Florence Pasquier,Ignacio Mateo,Ana Frank-García,Elisa Porcellini,Olivier Hanon,Eliecer Coto,Victoria Alvarez,Paolo Bosco,Gabriele Siciliano,Michelangelo Mancuso,Francesco Panza,Vincenzo Solfrizzi,Benedetta Nacmias,Sandro Sorbi,Paola Bossù,Paola Piccardi,Beatrice Arosio,Giorgio Annoni,Davide Seripa,Alberto Pilotto,Elio Scarpini,Daniela Galimberti,Alexis Brice,Didier Hannequin,Federico Licastro,Lesley Jones,Peter Holmans,Thorlakur Jonsson,Matthias Riemenschneider,Kevin Morgan,Steven G. Younkin,Michael John Owen,Michael Conlon O'Donovan,Philippe Amouyel,Julie Williams +177 more
TL;DR: Meta-analyses of all data provided compelling evidence that ABCA7 and the MS4A gene cluster are new Alzheimer's disease susceptibility loci and independent evidence for association for three loci reported by the ADGC, which, when combined, showed genome-wide significance.
Journal ArticleDOI
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
Adam C. Naj,Gyungah Jun,Gary W. Beecham,Li-San Wang,Badri N. Vardarajan,Jacqueline L. Buros,Paul Gallins,Joseph D. Buxbaum,Gail P. Jarvik,Paul K. Crane,Eric B. Larson,Thomas D. Bird,Bradley F. Boeve,Neill R. Graff-Radford,Philip L. De Jager,Philip L. De Jager,Denis A. Evans,Julie A. Schneider,Minerva M. Carrasquillo,Nilufer Ertekin-Taner,Steven G. Younkin,Carlos Cruchaga,John S. K. Kauwe,Petra Nowotny,Patricia L. Kramer,John Hardy,Matthew J. Huentelman,Amanda J. Myers,M. Michael Barmada,F. Yesim Demirci,Clinton T. Baldwin,Robert C. Green,Ekaterina Rogaeva,Peter St George-Hyslop,Peter St George-Hyslop,Steven E. Arnold,Robert W Barber,Thomas H. Beach,Eileen H. Bigio,James D. Bowen,Adam L. Boxer,James R. Burke,Nigel J. Cairns,Christopher S. Carlson,Regina M. Carney,Steven L. Carroll,Helena C. Chui,David G. Clark,Jason J. Corneveaux,Carl W. Cotman,Jeffrey L. Cummings,Charles DeCarli,Steven T. DeKosky,Ramon Diaz-Arrastia,Malcolm B. Dick,Dennis W. Dickson,William G. Ellis,Kelley Faber,Kenneth B. Fallon,Martin R. Farlow,Steven H. Ferris,Matthew P. Frosch,Douglas Galasko,Mary Ganguli,Marla Gearing,Daniel H. Geschwind,Bernardino Ghetti,John R. Gilbert,Sid Gilman,Bruno Giordani,Jonathan D. Glass,John H. Growdon,Ronald L. Hamilton,Lindy E. Harrell,Elizabeth Head,Lawrence S. Honig,Christine M. Hulette,Bradley T. Hyman,Gregory A. Jicha,Lee-Way Jin,Nancy Johnson,Jason Karlawish,Anna Karydas,Jeffrey Kaye,Ronald C. Kim,Edward H. Koo,Neil W. Kowall,James J. Lah,Allan I. Levey,Andrew P. Lieberman,Oscar L. Lopez,Wendy J. Mack,Daniel C. Marson,Frank Martiniuk,Deborah C. Mash,Eliezer Masliah,Wayne C. McCormick,Susan M. McCurry,Andrew McDavid,Ann C. McKee,W Marsel Mesulam,Bruce L. Miller,Carol A. Miller,Joshua W. Miller,Joseph E. Parisi,Daniel P. Perl,Elaine R. Peskind,Ronald C. Petersen,Wayne W. Poon,Joseph F. Quinn,Ruchita Rajbhandary,Murray A. Raskind,Barry Reisberg,John M. Ringman,Erik D. Roberson,Roger N. Rosenberg,Mary Sano,Lon S. Schneider,William P. Seeley,Michael L. Shelanski,Michael A. Slifer,Charles D. Smith,Joshua A. Sonnen,Salvatore Spina,Robert S. Stern,Rudolph E. Tanzi,John Q. Trojanowski,Juan C. Troncoso,Vivianna M. Van Deerlin,Harry V. Vinters,Jean Paul Vonsattel,Sandra Weintraub,Kathleen A. Welsh-Bohmer,Jennifer Williamson,Randall L. Woltjer,Laura B. Cantwell,Beth A. Dombroski,Duane Beekly,Kathryn L. Lunetta,Eden R. Martin,M. Ilyas Kamboh,Andrew J. Saykin,Eric M. Reiman,David A. Bennett,John C. Morris,Thomas J. Montine,Alison Goate,Deborah Blacker,Debby W. Tsuang,Hakon Hakonarson,Walter A. Kukull,Tatiana Foroud,Jonathan L. Haines,Richard Mayeux,Margaret A. Pericak-Vance,Lindsay A. Farrer,Gerard D. Schellenberg +156 more
TL;DR: The Alzheimer Disease Genetics Consortium performed a genome-wide association study of late-onset Alzheimer disease using a three-stage design consisting of a discovery stage (stage 1), two replication stages (stages 2 and 3), and both joint analysis and meta-analysis approaches were used.
Journal ArticleDOI
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimertextquotesingles disease
Denise Harold,Richard Abraham,Paul Hollingworth,Rebecca Sims,Amy Gerrish,Marian L. Hamshere,Jaspreet Singh Pahwa,Valentina Moskvina,Kimberley Dowzell,Amy L. Williams,Nicola Jones,Charlene Thomas,Alexandra Stretton,Angharad R. Morgan,Simon Lovestone,John Powell,Petroula Proitsi,Michelle K. Lupton,Carol Brayne,David C. Rubinsztein,Michael Gill,Brian A. Lawlor,Aoibhinn Lynch,Kevin Morgan,Kristelle Brown,Peter Passmore,David Craig,Bernadette McGuinness,Stephen Todd,Clive Holmes,David G. Mann,A. David Smith,Seth Love,Patrick G. Kehoe,John Hardy,Simon Mead,Nick C. Fox,Martin N. Rossor,John Collinge,Wolfgang Maier,Frank Jessen,Britta Schürmann,Reinhard Heun,Hendrik van den Bussche,Isabella Heuser,Johannes Kornhuber,Jens Wiltfang,Martin Dichgans,Lutz Frölich,Harald Hampel,Michael Hüll,Dan Rujescu,Alison Goate,John S. K. Kauwe,Carlos Cruchaga,Petra Nowotny,John C. Morris,Kevin Mayo,Kristel Sleegers,Karolien Bettens,Sebastiaan Engelborghs,Peter Paul De Deyn,Christine Van Broeckhoven,Gill Livingston,Nicholas Bass,Hugh Gurling,Andrew McQuillin,Rhian Gwilliam,Panagiotis Deloukas,Ammar Al-Chalabi,Christopher Shaw,Magda Tsolaki,Andrew B. Singleton,Rita Guerreiro,Thomas W Mühleisen,Markus M Nöthen,Susanne Moebus,Karl-Heinz Jöckel,Norman Klopp,H-Erich Wichmann,Minerva M. Carrasquillo,V. Shane Pankratz,Steven G. Younkin,Peter Holmans,Michael OtextquotesingleDonovan,Michael John Owen,Julie Williams +86 more
TL;DR: A two-stage genome-wide association study of Alzheimer's disease involving over 16,000 individuals, the most powerful AD GWAS to date, produced compelling evidence for association with Alzheimer’s disease in the combined dataset.