Javier Simón‐Sánchez

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Alan E. Renton, Elisa Majounie, Adrian J. Waite et al. · Neuron · 2011 · 4.5K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Javier Simón‐Sánchez, Claudia Schulte, José Brás et al. · Nature Genetics · 2009 · 2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

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 et al. · The Lancet Neurology · 2012 · 1.2K citations · Full text

Life Sciences, Molecular Genetics, Neurology +15

Genotype, haplotype and copy-number variation in worldwide human populations

Mattias Jakobsson, Sonja W. Scholz, Paul Scheet et al. · Nature · 2008 · 911 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)

David Melzer, John R. B. Perry, Dena Hernández et al. · PLoS Genetics · 2008 · 495 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17