Javier Simón-Sánchez mostly deals with Genetics, Single-nucleotide polymorphism, Haplotype, Genome-wide association study and TARDBP. His work on Genetics is being expanded to include thematically relevant topics such as Disease. His study on Genome-wide association study also encompasses disciplines like
His TARDBP research is multidisciplinary, incorporating perspectives in Charged multivesicular body protein 2B and C9orf72 Protein, DNA Repeat Expansion, C9orf72, Trinucleotide repeat expansion. His study in Trinucleotide repeat expansion is interdisciplinary in nature, drawing from both Penetrance, Internal medicine and Frontotemporal dementia. His work carried out in the field of Linkage disequilibrium brings together such families of science as Founder effect and Population genetics.
His primary areas of study are Genetics, Genome-wide association study, Disease, Single-nucleotide polymorphism and Genetic association. His is doing research in Locus, Gene, Allele, Genetic variation and Haplotype, both of which are found in Genetics. His Haplotype research incorporates elements of C9orf72 Protein, C9orf72, Trinucleotide repeat expansion and TARDBP.
In his work, Charged multivesicular body protein 2B is strongly intertwined with DNA Repeat Expansion, which is a subfield of C9orf72 Protein. His Disease research is multidisciplinary, incorporating elements of Genotyping, Bioinformatics and Genetic architecture. His Single-nucleotide polymorphism research includes themes of Meta-analysis, Founder effect and Allele frequency.
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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.
Genome-wide association study reveals genetic risk underlying Parkinson's disease
Javier Simón-Sánchez;Claudia Schulte;Jose M Bras;Jose M Bras;Manu Sharma.
Nature Genetics (2009)
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 Mok;Elise G. P. Dopper;Elise G. P. Dopper.
Lancet Neurology (2012)
Genotype, haplotype and copy-number variation in worldwide human populations
Mattias Jakobsson;Sonja W. Scholz;Sonja W. Scholz;Paul A Scheet;J. Raphael Gibbs;J. Raphael Gibbs.
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
Michael A. Nalls;Vincent Plagnol;Dena G. Hernandez;Dena G. Hernandez;Manu Sharma;Manu Sharma.
The Lancet (2011)
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
David Melzer;John R. B. Perry;Dena Hernandez;Anna-Maria Corsi.
PLOS Genetics (2008)
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data
Hon-Chung Fung;Hon-Chung Fung;Hon-Chung Fung;Sonja Scholz;Mar Matarin;Javier Simón-Sánchez;Javier Simón-Sánchez.
Lancet Neurology (2006)
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.
Lancet Neurology (2019)
A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease
V. Plagnol;M.A. Nalls;J.M. Bras;D.G. Hernandez;D.G. Hernandez.
PLOS Genetics (2011)
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
A. Beilina;I. N. Rudenko;A. Kaganovich;L. Civiero.
Proceedings of the National Academy of Sciences of the United States of America (2014)
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