Author

Ciara García

Hospital Universitario Central de Asturias

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioinformatics· 1 Genetics· 1 Genomics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:GWAS / association mapping· 3 Research Focus:eQTL / molecular QTL mapping· 2 Assay:GWAS summary statistics· 2 Assay:bulk RNA-seq· 1 Assay:clinical cohort / trial· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Andrew SingletoniD· 4 shared Astrid Daniela Adarmes-GómeziD· 4 shared Cornelis BlauwendraatiD· 4 shared Dena G. HernandeziD· 4 shared Dolores Buiza‐RuedaiD· 4 shared Fátima Carrillo· 4 shared Francisco Javier BarreroiD· 4 shared Huw R. MorrisiD· 4 shared

Activity by Year

2019-2020 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersBioinformatics

Andrew SingletonORCID

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Author profile →

4 papers

Recent·Most cited

Regulatory sites for known and novel splicing in human basal ganglia are enriched for disease-relevant information

Sebastian Guelfi, Karishma D’Sa, Juan Antonio Botía, Jana Vandrovcová, Regina Hertfelder Reynolds, David Zhang, Daniah Trabzuni, Leonardo Collado‐Torres, Andrew Thomason, Pedro Quijada Leyton, Sarah A. Gagliano Taliun, Mike A. Nalls, Alastair John Noyce, Aude Nicolas, Mark Cookson, , Elisabet Mondragón Rezola

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

Nature Communications · Feb 25, 2020Peer-reviewedBioinformatics

Expanding Parkinson’s disease genetics: novel risk loci, genomic context, causal insights and heritable risk

Mike A. Nalls, Cornelis Blauwendraat, Costanza Ludovica Vallerga, Karl Heilbron, Sara Bandrés‐Ciga, Diana Chang, Manuela M. X. Tan, Demis A. Kia, Alastair John Noyce, Angli Xue, José Brás, Emily Young, Rainer von Coelln, Javier Simón-Sánchez, Claudia Schulte, , Ciara García

Across 37,688 Parkinson's cases, 18,618 proxy-cases and 1.4M controls, 90 risk signals map to 78 loci (37 new); an 1805-variant polygenic score explains 26-36% of heritability.

The Lancet Neurology · Nov 6, 2019Peer-reviewedGenetics✦ In-depth digest

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, Cornelis Blauwendraat, Astrid Daniela Adarmes-Gómez, Inmaculada Bernal‐Bernal, Marta Bonilla‐Toribio, Dolores Buiza‐Rueda, Fátima Carrillo, Mario Carrión‐Claro, Pilar Gómez‐Garre, Silvia Jesús, Miguel Ángel Labrador‐Espinosa, Daniel Macías, Carlota Méndez‐del‐Barrio, , 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.

Movement Disorders · Oct 29, 2019Peer-reviewedNeuroscience

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, Alastair John Noyce, Aude Nicolas, Mark Cookson, Sara Bandrés‐Ciga, Jesse Raphael Gibbs, Dena G. Hernandez, Andrew Singleton, Xylena Reed, Hampton L. Leonard, Cornelis Blauwendraat, Faraz Faghri, José Brás, , 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.

npj Parkinson s Disease · Apr 17, 2019Peer-reviewedGenomics