J
Javier Simón-Sánchez
Researcher at University of Tübingen
Publications - 65
Citations - 14504
Javier Simón-Sánchez is an academic researcher from University of Tübingen. The author has contributed to research in topics: Genome-wide association study & Population. The author has an hindex of 41, co-authored 64 publications receiving 12461 citations. Previous affiliations of Javier Simón-Sánchez include National Institutes of Health & VU University Amsterdam.
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Journal ArticleDOI
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
Alan E. Renton,Elisa Majounie,Adrian James Waite,Javier Simón-Sánchez,Javier Simón-Sánchez,Sara Rollinson,J. Raphael Gibbs,J. Raphael Gibbs,Jennifer C. Schymick,Hannu Laaksovirta,John C. van Swieten,John C. van Swieten,Liisa Myllykangas,Hannu Kalimo,Anders Paetau,Yevgeniya Abramzon,Anne M. Remes,Alice Kaganovich,Sonja W. Scholz,Sonja W. Scholz,Sonja W. Scholz,Jamie Duckworth,Jinhui Ding,Daniel W. Harmer,Dena G. Hernandez,Dena G. Hernandez,Janel O. Johnson,Janel O. Johnson,Kin Y. Mok,Mina Ryten,Danyah Trabzuni,Rita Guerreiro,Richard W. Orrell,James Neal,Alexandra Murray,J. P. Pearson,Iris E. Jansen,David Sondervan,Harro Seelaar,Derek J. Blake,Kate Young,Nicola Halliwell,Janis Bennion Callister,Greg Toulson,Anna Richardson,Alexander Gerhard,Julie S. Snowden,David M. A. Mann,David Neary,Mike A. Nalls,Terhi Peuralinna,Lilja Jansson,Veli-Matti Isoviita,Anna-Lotta Kaivorinne,Maarit Hölttä-Vuori,Elina Ikonen,Raimo Sulkava,Michael Benatar,Joanne Wuu,Adriano Chiò,Gabriella Restagno,Giuseppe Borghero,Mario Sabatelli,David Heckerman,Ekaterina Rogaeva,Lorne Zinman,Jeffrey D. Rothstein,Michael Sendtner,Carsten Drepper,Evan E. Eichler,Can Alkan,Ziedulla Abdullaev,Svetlana Pack,Amalia Dutra,Evgenia Pak,John Hardy,Andrew B. Singleton,Nigel Williams,Peter Heutink,Stuart Pickering-Brown,Huw R. Morris,Huw R. Morris,Huw R. Morris,Pentti J. Tienari,Bryan J. Traynor,Bryan J. Traynor +85 more
TL;DR: The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases, and a large hexanucleotide repeat expansion in the first intron of C9ORF72 is shown.
Journal ArticleDOI
Genome-wide association study reveals genetic risk underlying Parkinson's disease
Javier Simón-Sánchez,Claudia Schulte,Jose Bras,Jose Bras,Manu Sharma,J. Raphael Gibbs,J. Raphael Gibbs,Daniela Berg,Coro Paisán-Ruiz,Peter Lichtner,Sonja W. Scholz,Sonja W. Scholz,Dena G. Hernandez,Dena G. Hernandez,Rejko Krüger,Monica Federoff,Christine Klein,Alison Goate,Joel S. Perlmutter,Michael Bonin,Mike A. Nalls,Thomas Illig,Christian Gieger,Henry Houlden,Michael Steffens,Michael S. Okun,Brad A. Racette,Mark R. Cookson,Kelly D. Foote,Hubert H. Fernandez,Bryan J. Traynor,Stefan Schreiber,Sampath Arepalli,Ryan R. Zonozi,Katrina Gwinn,Marcel P. van der Brug,Marcel P. van der Brug,Grisel Lopez,Stephen J. Chanock,Arthur Schatzkin,Yikyung Park,Albert R. Hollenbeck,Jianjun Gao,Xuemei Huang,Nicholas W. Wood,Delia Lorenz,Günther Deuschl,Honglei Chen,Olaf Riess,John Hardy,Andrew B. Singleton,Thomas Gasser +51 more
TL;DR: It is demonstrated that an unequivocal role for common genetic variants in the etiology of typical PD and population-specific genetic heterogeneity in this disease is suggested, and supporting evidence that common variation around LRRK2 modulates risk for PD is provided.
Journal ArticleDOI
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
Mike A. Nalls,Cornelis Blauwendraat,Costanza L. Vallerga,Karl Heilbron,Sara Bandres-Ciga,Diana Chang,Manuela Tan,Demis A. Kia,Alastair J. Noyce,Alastair J. Noyce,Angli Xue,Jose Bras,Jose Bras,Emily Young,Rainer von Coelln,Javier Simón-Sánchez,Javier Simón-Sánchez,Claudia Schulte,Claudia Schulte,Manu Sharma,Lynne Krohn,Lynne Krohn,Lasse Pihlstrøm,Ari Siitonen,Ari Siitonen,Hirotaka Iwaki,Hirotaka Iwaki,Leonard H,Faraz Faghri,Faraz Faghri,J. Raphael Gibbs,Dena G. Hernandez,Sonja W. Scholz,Sonja W. Scholz,Juan A. Botía,Juan A. Botía,Maria Martinez,Maria Martinez,Jean-Christophe Corvol,Suzanne Lesage,Joseph Jankovic,Lisa M. Shulman,Margaret Sutherland,Pentti J. Tienari,Kari Majamaa,Kari Majamaa,Mathias Toft,Mathias Toft,Ole A. Andreassen,Ole A. Andreassen,Tushar Bangale,Alexis Brice,Jian Yang,Ziv Gan-Or,Ziv Gan-Or,Thomas Gasser,Thomas Gasser,Peter Heutink,Peter Heutink,Joshua M. Shulman,Nicholas W. Wood,David A. Hinds,John Hardy,Huw R. Morris,Jacob Gratten,Peter M. Visscher,Robert R. Graham,Andrew B. Singleton,Astrid Adarmes-Gómez,Miquel Aguilar,Akbota Aitkulova,Vadim Akhmetzhanov,Roy N. Alcalay,Ignacio Alvarez,Victoria Alvarez,Francisco J. Barrero,Jesús Alberto Bergareche Yarza,Inmaculada Bernal-Bernal,Kimberley Billingsley,Marta Blazquez,Marta Bonilla-Toribio,María Teresa Boungiorno,Kathrin Brockmann,Vivien J. Bubb,Dolores Buiza-Rueda,Ana Cámara,Fátima Carrillo,Mario Carrión-Claro,Debora Cerdan,Viorica Chelban,Jordi Clarimón,Carl E Clarke,Yaroslau Compta,Mark R. Cookson,David Craig,Fabrice Danjou,Monica Diez-Fairen,Oriol Dols-Icardo,Jacinto Duarte,Raquel Duran,Francisco Escamilla-Sevilla,Valentina Escott-Price,Mario Ezquerra,Cici Feliz,Manel Fernández,Rubén Fernández-Santiago,Steven Finkbeiner,Thomas Foltynie,Ciara Garcia,Pedro J. Garcia-Ruiz,Maria Jose Gomez Heredia,Pilar Gómez-Garre,Manuel Menéndez González,Isabel González-Aramburu,Sebastian Guelfi,Rita Guerreiro,John Hardy,Sharon Hassin-Baer,Janet Hoenicka,Peter Holmans,Henry Houlden,Jon Infante,Silvia Jesús,Adriano Jimenez-Escrig,Gulnaz Kaishybayeva,Rauan Kaiyrzhanov,Altynay Karimova,Kerri J. Kinghorn,Sulev Kõks,Jaime Kulisevsky,Miguel A. Labrador-Espinosa,Hampton L. Leonard,Patrick A. Lewis,Jose Lopez-Sendon,Ruth C. Lovering,Steven J. Lubbe,Codrin Lungu,Daniel Macias,Claudia Manzoni,Juan Marín,Johan Marinus,María José Martí,Irene Martínez Torres,Juan Carlos Martínez-Castrillo,Marina Mata,Niccolo E. Mencacci,Carlota Méndez-del-Barrio,Ben Middlehurst,Adolfo Mínguez,Pablo Mir,Kin Y. Mok,Esteban Muñoz,Derek P. Narendra,Oluwadamilola O. Ojo,Njideka U Okubadejo,Ana Gorostidi Pagola,Pau Pastor,Francisco Perez Errazquin,Teresa Periñán-Tocino,Helene Plun-Favreau,John P. Quinn,Lea R'Bibo,Xylena Reed,Elisabet Mondragon Rezola,Mie Rizig,Patrizia Rizzu,Laurie Robak,Antonio Sanchez Rodriguez,Guy A. Rouleau,Javier Ruiz-Martínez,Clara Ruz,Mina Ryten,Dinara Sadykova,Sebastian R Schreglmann,Chingiz Shashkin,María Sierra,Esther Suarez-Sanmartin,Pille Taba,Cesar Tabernero,Manuela X Tan,Juan Pablo Tartari,Cristina Tejera-Parrado,Eduard Tolosa,Daniah Trabzuni,Francesc Valldeoriola,Jacobus J. van Hilten,Kendall Van Keuren-Jensen,Laura Vargas-González,Lydia Vela,Francisco Vives,Nigel Williams,Nazira Zharkinbekova,Zharkyn Zharmukhanov,Elena Zholdybayeva,Alexander Zimprich,Pauli Ylikotila,Stephen G. Reich,Joseph M. Savitt,Michelle Agee,Babak Alipanahi,Adam Auton,Robert K. Bell,Katarzyna Bryc,Sarah L. Elson,Pierre Fontanillas,Nicholas A. Furlotte,Karen E. Huber,Barry W. Hicks,Ethan M. Jewett,Yunxuan Jiang,Aaron Kleinman,Keng-Han Lin,Nadia K. Litterman,Jennifer C. McCreight,Matthew H. McIntyre,Kimberly F. McManus,Joanna L. Mountain,Elizabeth S. Noblin,Carrie A.M. Northover,Steven J. Pitts,G. David Poznik,J. Fah Sathirapongsasuti,Janie F. Shelton,Suyash Shringarpure,Chao Tian,Joyce Y. Tung,Vladimir Vacic,Xin Wang,Catherine H. Wilson,Tim J. Anderson,Steven R. Bentley,John C. Dalrymple-Alford,Javed Fowdar,Glenda M. Halliday,Anjali K. Henders,Ian B. Hickie,Irfahan Kassam,Martin A. Kennedy,John B.J. Kwok,Simon J.G. Lewis,George D. Mellick,Grant W. Montgomery,John F. Pearson,Toni L. Pitcher,Julia Sidorenko,Peter A. Silburn,Leanne Wallace,Naomi R. Wray,Futao Zhang +248 more
TL;DR: These data provide the most comprehensive survey of genetic risk within Parkinson's disease to date, providing a biological context for these risk factors, and showing that a considerable genetic component of this disease remains unidentified.
Journal ArticleDOI
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Elisa Majounie,Alan E. Renton,Kin Y. Mok,Elise G.P. Dopper,Elise G.P. Dopper,Adrian James Waite,Sara Rollinson,Adriano Chiò,Gabriella Restagno,Nayia Nicolaou,Nayia Nicolaou,Javier Simón-Sánchez,Javier Simón-Sánchez,John C. van Swieten,John C. van Swieten,Yevgeniya Abramzon,Janel O. Johnson,Michael Sendtner,Roger Pamphlett,Richard W. Orrell,Simon Mead,Katie C. L. Sidle,Henry Houlden,Jonathan D. Rohrer,Karen E. Morrison,Hardev Pall,Kevin Talbot,Olaf Ansorge,Dena G. Hernandez,Sampath Arepalli,Mario Sabatelli,Gabriele Mora,Massimo Corbo,Fabio Giannini,Andrea Calvo,Elisabet Englund,Giuseppe Borghero,Gian Luca Floris,Anne M. Remes,Hannu Laaksovirta,Leo McCluskey,John Q. Trojanowski,Vivianna M. Van Deerlin,Gerard D. Schellenberg,Mike A. Nalls,Vivian E. Drory,Chin-Song Lu,Chin-Song Lu,Tu-Hsueh Yeh,Tu-Hsueh Yeh,Hiroyuki Ishiura,Yuji Takahashi,Shoji Tsuji,Isabelle Le Ber,Isabelle Le Ber,Isabelle Le Ber,Alexis Brice,Alexis Brice,Alexis Brice,Carsten Drepper,Nigel Williams,Janine Kirby,Pamela J. Shaw,John Hardy,Pentti J. Tienari,Peter Heutink,Huw R. Morris,Huw R. Morris,Huw R. Morris,Stuart Pickering-Brown,Bryan J. Traynor,Bryan J. Traynor +71 more
TL;DR: A common Mendelian genetic lesion in C9orf72 is implicated in many cases of sporadic and familial ALS and FTD, suggesting a one-off expansion occurring about 1500 years ago.
Journal ArticleDOI
Genotype, haplotype and copy-number variation in worldwide human populations
Mattias Jakobsson,Sonja W. Scholz,Sonja W. Scholz,Paul Scheet,J. Raphael Gibbs,J. Raphael Gibbs,Jenna M. VanLiere,Hon Chung Fung,Hon Chung Fung,Zachary A. Szpiech,James H. Degnan,Kai Wang,Rita Guerreiro,Rita Guerreiro,Jose Bras,Jose Bras,Jennifer C. Schymick,Jennifer C. Schymick,Dena G. Hernandez,Bryan J. Traynor,Javier Simón-Sánchez,Javier Simón-Sánchez,Mar Matarin,Angela Britton,Joyce van de Leemput,Joyce van de Leemput,Ian Rafferty,Maja Bucan,Howard M. Cann,John Hardy,Noah A. Rosenberg,Andrew B. Singleton,Andrew B. Singleton +32 more
TL;DR: The analysis of high-quality genotypes at 525,910 single-nucleotide polymorphisms (SNPs) and 396 copy-number-variable loci in a worldwide sample of 29 populations produces new inferences about inter-population variation, support the utility of CNVs in human population-genetic research, and serve as a genomic resource for human- genetic studies in diverse worldwide populations.