Author

Josep Blázquez-Folch

Universitat Internacional de CatalunyaORCID 0009-0007-2903-7404Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Assay:GWAS summary statistics· 1 Assay:imaging· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Agustı́n RuiziD· 3 shared Alberto RábanoiD· 3 shared Amanda C. CanoiD· 3 shared Andrea MigueliD· 3 shared Ángel CarracedoiD· 3 shared Clàudia OlivéiD· 3 shared Inés QuintelaiD· 3 shared Itziar de RojasiD· 3 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Agustı́n RuizORCID

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3 papers

Recent·Most cited

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedJun 30, 2026

Landscape of copy number variants in Spanish People with Dementia

Itziar de Rojas, Pablo García‐González, Clàudia Olivé…·Maria-Dolores Alonso

The paper analyzes copy number variants in a Spanish dementia cohort and identifies potential novel genes associated with ADRD but finds no genome-wide significant associations.

DOI 10.1038/s41525-026-00589-6

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMar 10, 2025

Genetic dissection of hippocampal sclerosis of ageing using magnetic resonance imaging surrogates

Clàudia Olivé, Itziar de Rojas, Linda Zhang…·Agustı́n Ruiz

The paper investigates the association between Alzheimer's disease SNPs and hippocampal sclerosis of aging using MRI surrogates in a cohort of non-demented individuals.

DOI 10.1101/2025.03.10.25323307

humanimaging

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Genetic & Genomic MedicinemedRxivPreprintJun 21, 2024

A Novel Susceptibility Locus in NFASC Highlights Oligodendrocytes and Myelination in Progressive Supranuclear Palsy Pathology

Pablo García‐González, Héctor Rodrigo Lara, Yaroslau Compta…·Agustı́n Ruiz

The paper performs a GWAS on PSP in the Iberian population, replicates known risk variants, and identifies a novel locus in NFASC/CNTN2 associated with oligodendrocyte and myelination processes.

3 citations

humanGWAS summary statistics

𝕏 PostBluesky