J
Judith Fischer
Researcher at University of Freiburg
Publications - 214
Citations - 10460
Judith Fischer is an academic researcher from University of Freiburg. The author has contributed to research in topics: Ichthyosis & Congenital ichthyosis. The author has an hindex of 43, co-authored 193 publications receiving 9409 citations. Previous affiliations of Judith Fischer include University of California, San Francisco & Commissariat à l'énergie atomique et aux énergies alternatives.
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Journal ArticleDOI
Genome-wide scan reveals association of psoriasis with IL-23 and NF-κB pathways
Rajan P. Nair,Kristina Callis Duffin,Cynthia Helms,Jun Ding,Philip E. Stuart,David E. Goldgar,Johann E. Gudjonsson,Yun Li,Trilokraj Tejasvi,Bing Jian Feng,Andreas Ruether,Stefan Schreiber,Michael Weichenthal,Dafna D. Gladman,Proton Rahman,Steven J. Schrodi,Sampath Prahalad,Sampath Prahalad,Stephen L. Guthery,Stephen L. Guthery,Judith Fischer,Wilson Liao,Pui-Yan Kwok,Alan Menter,G. Mark Lathrop,Carol Wise,Ann B. Begovich,John J. Voorhees,James T. Elder,James T. Elder,Gerald G. Krueger,Anne M. Bowcock,Gonçalo R. Abecasis +32 more
TL;DR: The results provide strong support for the association of at least seven genetic loci and psoriasis (each with combined P < 5 × 10−8) and suggest priority targets for study in other auto-immune disorders.
Journal ArticleDOI
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
Lam C. Tsoi,Sarah L. Spain,Sarah L. Spain,Jo Knight,Eva Ellinghaus,Eva Ellinghaus,Philip E. Stuart,Francesca Capon,Jun Ding,Yanming Li,Trilokraj Tejasvi,Johann E. Gudjonsson,Hyun Min Kang,Michael H. Allen,Ross McManus,Giuseppe Novelli,Lena Samuelsson,Joost Schalkwijk,Mona Ståhle,A. David Burden,Catherine H. Smith,Michael J. Cork,Xavier Estivill,Anne M. Bowcock,Gerald G. Krueger,Wolfgang Weger,Jane Worthington,Rachid Tazi-Ahnini,Frank O. Nestle,Adrian Hayday,Per Hoffmann,Juliane Winkelmann,Cisca Wijmenga,Cordelia Langford,Sarah Edkins,Robert Andrews,Hannah Blackburn,Amy Strange,Gavin Band,Richard D. Pearson,Damjan Vukcevic,Chris C. A. Spencer,Panos Deloukas,Ulrich Mrowietz,Stefan Schreiber,Stephan Weidinger,Sulev Kõks,Külli Kingo,Tõnu Esko,Andres Metspalu,Henry W. Lim,John J. Voorhees,Michael Weichenthal,H.-Erich Wichmann,Vinod Chandran,Cheryl F. Rosen,Proton Rahman,Dafna D. Gladman,Christopher E.M. Griffiths,André Reis,Juha Kere,Juha Kere,Rajan P. Nnair,Andre Franke,Jonathan Nn Barker,Ggoncalo R. Abecasis,James Tt Eelder,Richard Ttrembath,Richard Ttrembath,Kristina Callis Duffin,Cindy Helms,David E. Goldgar,Yun Li,Justin Paschall,Justin Paschall,Mary J. Malloy,Mary J. Malloy,Clive R. Pullinger,Clive R. Pullinger,John P. Kane,John P. Kane,Jennifer M. Gardner,Amy Perlmutter,Andrew Miner,Bing Jian Feng,Ravi Hiremagalore,Robert W. Ike,Enno Christophers,Tilo Henseler,Andreas Ruether,Steven J. Schrodi,Sampath Prahalad,Sampath Prahalad,Stephen L. Guthery,Stephen L. Guthery,Judith Fischer,Wilson Liao,Pui Kwok,Alan Menter,G. Mark Lathrop,Carol Wise,Ann B. Begovich,Alexandros Onoufriadis,Michael E. Weale,Angelika Hofer,Wolfgang Salmhofer,Peter Wolf,Kati Kainu,Ulpu Saarialho-Kere,Sari Suomela,Petra Badorf,Ulrike Hüffmeier,Werner Kurrat,Wolfgang Küster,Jesús Lascorz,Rotraut Mössner,Funda Schürmeier-Horst,Markward Ständer,Heiko Traupe,Judith G.M. Bergboer,Martin den Heijer,Martin den Heijer,Peter C.M. van de Kerkhof,Patrick L.J.M. Zeeuwen,L. Barnes,Linda E. Campbell,Caitriona Cusack,Ciara Coleman,Judith Conroy,Sean Ennis,Oliver FitzGerald,Phil Gallagher,Alan D. Irvine,Brian Kirby,Trevor Markham,W.H. Irwin McLean,Joe McPartlin,Sarah Rogers,Anthony W. Ryan,Agnieszka Zawirska,Emiliano Giardina,Tiziana Lepre,Carlo Perricone,Gemma Martin-Ezquerra,Ramon M. Pujol,Eva Riveira-Muñoz,Annica Inerot,Åsa Torinsson Naluai,Lotus Mallbris,Katarina Wolk,Joyce Leman,Anne Barton,Richard B. Warren,Helen S. Young,Isis Ricaño-Ponce,Gosia Trynka,Fawnda Pellett,Andrew Henschel,Marin Aurand,Bruce F. Bebo,Christian Gieger,Thomas Illig,Susanne Moebus,Karl-Heinz Jöckel,Raimund Erbel,Peter Donnelly,Peter Donnelly,Leena Peltonen,Jenefer M. Blackwell,Elvira Bramon,Elvira Bramon,Matthew A. Brown,Juan P. Casas,Aiden Corvin,Nicholas Craddock,Audrey Duncanson,Janusz Jankowski,Hugh S. Markus,Christopher G. Mathew,Mark I. McCarthy,Colin N. A. Palmer,Robert Plomin,Anna Rautanen,Stephen J. Sawcer,Nilesh J. Samani,Ananth C. Viswanathan,Nicholas W. Wood,Céline Bellenguez,Colin Freeman,Garrett Hellenthal,Eleni Giannoulatou,Matti Pirinen,Zhan Su,Sarah E. Hunt,Rhian Gwilliam,Suzannah Bumpstead,Serge Dronov,Matthew W. Gillman,Emma Gray,Naomi Hammond,Alagurevathi Jayakumar,O. T. McCann,Jennifer Liddle,M. Perez,Simon C. Potter,Radhi Ravindrarajah,Michelle Ricketts,Matthew Waller,Paul A. Weston,Sara Widaa,Pamela Whittaker,Rajan P. Neir,Jonathan Barker,Gonçalo R. Abecasis,James T. Elder,Richard C. Trembath +215 more
TL;DR: A meta-analysis of genome-wide association studies and independent data sets genotyped on the Immunochip identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals, and identified five independent signals within previously known loci.
Journal ArticleDOI
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009
Vinzenz Oji,Gianluca Tadini,Masashi Akiyama,Claudine Blanchet Bardon,Christine Bodemer,Emmanuelle Bourrat,Philippe Coudiere,John J. DiGiovanna,Peter M. Elias,Judith Fischer,Philip Fleckman,Michal Gina,John I. Harper,Takashi Hashimoto,Ingrid Hausser,Hans Christian Hennies,Daniel Hohl,Alain Hovnanian,Alain Hovnanian,Akemi Ishida-Yamamoto,W. K. Jacyk,Sancy A. Leachman,Irene M. Leigh,Juliette Mazereeuw-Hautier,Leonard M. Milstone,Fanny Morice-Picard,Amy S. Paller,Gabriele Richard,Matthias Schmuth,Matthias Schmuth,Hiroshi Shimizu,Eli Sprecher,Maurice A.M. van Steensel,Alain Taieb,Jorge R. Toro,Pierre Vabres,Anders Vahlquist,Mary L. Williams,Heiko Traupe +38 more
TL;DR: An international consensus is achieved for the classification of inherited ichthyosis that should be useful for all clinicians and can serve as reference point for future research.
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
Lam C. Tsoi,Sarah L. Spain,Jo Knight,Eva Ellinghaus,Philip E. Stuart,Francesca Capon,Jun Ding,Yun Li,Trilokraj Tejasvi,Johann E. Gudjonsson,Hyun Min Kang,Mariet Allen,Ross McManus,Giuseppe Novelli,Lena Samuelsson,J. Schalkwijk,Mona Ståhle,A D Burden,Catherine H. Smith,Michael J. Cork,Xavier Estivill,Anne M. Bowcock,Gerald G. Krueger,Wolfgang Weger,Jane Worthington,Rachid Tazi-Ahnini,Frank O. Nestle,Adrian Hayday,Per Hoffmann,Juliane Winkelmann,Cisca Wijmenga,Cordelia Langford,Sarah Edkins,Ross M. Andrews,H. D. Blackburn,A. Strange,Richard D. Pearson,Damjan Vukcevic,Chris C. A. Spencer,Panagiotis Deloukas,Ulrich Mrowietz,Stefan Schreiber,Stephan Weidinger,Sulev Kõks,Külli Kingo,Tõnu Esko,Andres Metspalu,Henry W. Lim,John J. Voorhees,Michael Weichenthal,H. E. Wichmann,Vinod Chandran,Cheryl F. Rosen,Proton Rahman,Dafna D. Gladman,Christopher E.M. Griffiths,André Reis,Juha Kere,R. P. Nnair,Andre Franke,J. Barker,Gonçalo R. Abecasis,J. T. Eelder,R. Ttrembath,Kristina Callis Duffin,Cynthia Helms,David E. Goldgar,Justin Paschall,Mary J. Malloy,Clive R. Pullinger,John P. Kane,Jennifer M. Gardner,A. Perlmutter,Andrew Miner,Bing Jian Feng,Ravi Hiremagalore,Robert W. Ike,Enno Christophers,Tilo Henseler,Andreas Ruether,Steven J. Schrodi,Sampath Prahalad,Stephen L. Guthery,Judith Fischer,Wilson Liao,Pui-Yan Kwok,Alan Menter,G.M. Lathrop,Carol Wise,Ann B. Begovich,Alexandros Onoufriadis,Michael E. Weale,Anne C. Hofer,Wolfgang Salmhofer,Philip A. Wolf,Kati Kainu,Ulpu Saarialho-Kere,Sari Suomela,P. Badorf,Ulrike Hüffmeier,Werner Kurrat,Wolfgang Küster,Jesús Lascorz,Rotraut Mössner,Funda Schürmeier-Horst,Markward Ständer,Horst Traupe,Judith G.M. Bergboer,Martin den Heijer,P.C.M. van de Kerkhof,Patrick L.J.M. Zeeuwen,L. Barnes,Linda E. Campbell,Caitriona Cusack,C. M. Coleman,Judith Conroy,Sean Ennis,Oliver FitzGerald,Phil Gallagher,Alan D. Irvine,Brian Kirby,Trevor Markham,Whi McLean,Joseph McPartlin,Sarah Rogers,Anthony W. Ryan,Agnieszka Zawirska,Emiliano Giardina,Tiziana Lepre,Carlo Perricone,Gemma Martin-Ezquerra,Ramon M. Pujol,Eva Riveira-Muñoz,Annica Inerot,Åsa Torinsson Naluai,Lotus Mallbris,Katarina Wolk,Joyce Leman,Anne Barton,Richard B. Warren,Helen S. Young,Isis Ricaño-Ponce,Gosia Trynka,Fawnda Pellett,A. Henschel,M. Aurand,Bruce F. Bebo,Christian Gieger,Thomas Illig,Susanne Moebus,K. H. Jöckel,Raimund Erbel,Peter Donnelly,Leena Peltonen,Jenefer M. Blackwell,Elvira Bramon,Matthew A. Brown,Juan P. Casas,Aiden Corvin,N. Craddock,Audrey Duncanson,Janusz Jankowski,Hugh S. Markus,Christopher G. Mathew,Mark I. McCarthy,Colin N. A. Palmer,Robert Plomin,Anna Rautanen,Stephen Sawcer,Nilesh J. Samani,Ananth C. Viswanathan,Nicholas W. Wood,Céline Bellenguez,Colin Freeman,Garrett Hellenthal,Eleni Giannoulatou,Matti Pirinen,Zhan Su,Sarah E. Hunt,R. Gwilliam,Suzannah Bumpstead,Serge Dronov,Matthew W. Gillman,Erin Gray,Naomi Hammond,Alagurevathi Jayakumar,O. T. McCann,Jennifer Liddle,Maritza Pérez,Simon C. Potter,Radhi Ravindrarajah,Michelle Ricketts,Matthew Waller,Paul A. Weston,Sara Widaa,Pamela Whittaker,R. P. Neir,J.N.W.N. Barker,James T. Elder,Richard C. Trembath +199 more
TL;DR: A meta-analysis of genome-wide association studies and independent data sets genotyped on the Immunochip identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals, and identified five independent signals within previously known loci.
Journal ArticleDOI
Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome
Caroline Lefèvre,Florence Jobard,Frédéric Caux,Bakar Bouadjar,Ayşen Karaduman,Roland Heilig,Hakima Lakhdar,Andreas Wollenberg,Jean-Luc Verret,Jean Weissenbach,Meral Özgüç,Mark Lathrop,Jean-François Prud'homme,Judith Fischer +13 more
TL;DR: The recently identified CGI-58 protein belongs to a large family of proteins characterized by an alpha/beta hydrolase fold that contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily.