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Javier Simón-Sánchez

Javier Simón-Sánchez

D-Index & Metrics

Genetics

D-Index
51
Citations
22260
World Ranking
3825
National Ranking
255

Overview

Javier Simón-Sánchez is affiliated with the University of Tübingen in Germany and conducts research primarily in the fields of Biochemistry, Genetics and Molecular Biology, as well as Medicine. Their work spans various subfields including Genetics, Molecular Biology, Neurology, Cellular and Molecular Neuroscience, and Physiology.

The scientist's research topics cover:

  • Genetic Associations and Epidemiology
  • Neurological diseases and metabolism
  • Genetics and Neurodevelopmental Disorders
  • Parkinson's Disease Mechanisms and Treatments
  • RNA regulation and disease
  • RNA Research and Splicing
  • RNA modifications and cancer

Recent publications by Javier Simón-Sánchez include:

  • Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome (2021, Nature Communications)
  • Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets (2021, JAMA Neurology)
  • Identification of sixteen novel candidate genes for late onset Parkinson's disease (2021, Molecular Neurodegeneration)
  • Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information (2020, Nature Communications)
  • Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia (2021, Journal of Clinical Investigation)

The frequent co-authors collaborating with Javier Simón-Sánchez include:

  • Thomas Gasser
  • Peter Heutink
  • Cornelis Blauwendraat
  • Niccolò E. Mencacci
  • Nicholas Wood

Javier Simón-Sánchez typically publishes in venues such as:

  • Nature Communications
  • bioRxiv (Cold Spring Harbor Laboratory)
  • JAMA Neurology
  • Molecular Neurodegeneration
  • Journal of Clinical Investigation

Best Publications

  • 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

  • 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

  • Genome-wide association study reveals genetic risk underlying Parkinson's disease

    Javier Simón-Sánchez;Claudia Schulte;Jose M Bras;Jose M Bras;Manu Sharma

  • 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

  • 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

  • A genome-wide association study identifies protein quantitative trait loci (pQTLs).

    David Melzer;John R. B. Perry;Dena Hernandez;Anna-Maria Corsi

  • Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease

    L.A. Robak;L.A. Robak;I.E. Jansen;I.E. Jansen;J van Rooij;A.G. Uitterlinden

  • 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

  • Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

    Suzanne Lesage;Valérie Drouet;Elisa Majounie;Vincent Deramecourt

  • 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

  • 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

  • Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.

    Cornelis Blauwendraat;Karl Heilbron;Costanza L. Vallerga;Sara Bandres-Ciga

  • The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

    Javier Simón-Sánchez;Elise G. P. Dopper;Elise G. P. Dopper;Petra E. Cohn-Hokke;Renate K. Hukema

  • SNCA Variants Are Associated with Increased Risk for Multiple System Atrophy

    Sonja W. Scholz;Sonja W. Scholz;Henry Houlden;Claudia Schulte;Manu Sharma

  • Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

    Joyce Van De Leemput;Jayanth Chandran;Jayanth Chandran;Melanie A. Knight;Lynne A. Holtzclaw

  • DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

    Sarah Camargos;Sarah Camargos;Sonja Scholz;Javier Simón-Sánchez;Coro Paisán-Ruiz

  • Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

    Javier Simon-Sanchez;Sonja Scholz;Hon-Chung Fung;Hon-Chung Fung;Mar Matarin

  • A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release

    Mar Matarín;W. Mark Brown;Sonja Scholz;Javier Simón-Sánchez;Javier Simón-Sánchez

  • Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease

    M.F. Keller;M. Saad;M. Saad;J. Bras;F. Bettella

Frequent Co-Authors

Peter Heutink
Peter Heutink German Center for Neurodegenerative Diseases
Andrew B. Singleton
Andrew B. Singleton National Institutes of Health
Dena G. Hernandez
Dena G. Hernandez National Institutes of Health
Thomas Gasser
Thomas Gasser University of Tübingen
J. Raphael Gibbs
J. Raphael Gibbs National Institutes of Health
John Hardy
John Hardy University College London
Sonja W. Scholz
Sonja W. Scholz National Institutes of Health
Alexis Brice
Alexis Brice Institut du Cerveau
Mike A. Nalls
Mike A. Nalls National Institutes of Health
Jose Bras
Jose Bras Van Andel Institute

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