What is he best known for?
The fields of study he is best known for:
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
- LRRK2 that connect with fields like Odds ratio, Candidate gene, Age of onset and Kinase,
- Meta-analysis which is related to area like Mendelian inheritance, Genetic association and Imputation.
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 most cited work include:
- A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD (2859 citations)
- A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD (2859 citations)
- Genome-wide association study reveals genetic risk underlying Parkinson's disease (1433 citations)
What are the main themes of his work throughout his whole career to date?
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.
He most often published in these fields:
- Genetics (120.21%)
- Genome-wide association study (42.55%)
- Disease (53.19%)
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