Author

Javier Ruiz‐Martínez

Biogipuzkoa Health Research InstituteORCID 0000-0001-7326-6270Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Neuroscience· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:GWAS / association mapping· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1

Frequent Co-Authors

Ana Vinagre‐AragóniD· 2 shared Andrew SingletoniD· 2 shared Astrid Daniela Adarmes-GómeziD· 2 shared Carlota Méndez‐del‐BarrioiD· 2 shared Ciara García· 2 shared Cornelis BlauwendraatiD· 2 shared Cristina Tejera‐ParradoiD· 2 shared Daniel Macías· 2 shared

Activity by Year

2019-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersNeuroscience

Ana Vinagre‐AragónORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

NeurosciencebioRxivPreprintApr 11, 2023

A potential patient stratification biomarker for Parkinson's disease based on LRRK2 kinase-mediated centrosomal alterations in peripheral blood-derived cells

Yahaira Naaldijk, Belén Fernández, Rachel Fasiczka…·Sabine Hilfiker

Peripheral blood-derived cells can be employed to stratify Parkinson's disease patients most likely to respond to LRRK2-related therapeutics.

1 citation

humanproteomics

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NeuroscienceMovement DisordersPeer-reviewedOct 29, 2019

The genetic architecture of Parkinson disease in Spain: characterizing population-specific risk, differential haplotype structures, and providing etiologic insight

Sara Bandrés‐Ciga, Sarah Ahmed, Marya S. Sabir…·Andrew Singleton

This study conducts a GWAS of Parkinson disease in Spain, identifies a novel population-specific signal at PARK2 associated with age-at-onset, and highlights genetic substructure for future fine-mapping.

67 citationstop 4%

humanwhole-genome sequencing

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Genomicsnpj Parkinson s DiseasePeer-reviewedApr 17, 2019

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

Regina Hertfelder Reynolds, Juan Antonio Botía, Mike A. Nalls…·Oriol Dols‐Icardo

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.

100 citationstop 1%

humanGWAS summary statistics

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