Author

Guillermo García‐Ribas

Instituto Ramón y Cajal de Investigación Sanitaria

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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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Assay:GWAS summary statistics· 2 Research Focus:benchmarking· 1 Research Focus:GWAS / association mapping· 1 Research Focus:polygenic risk· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ángel CarracedoiD· 4 shared Gerard Piñol‐RipolliD· 4 shared Itziar de RojasiD· 4 shared José Luís RoyoiD· 4 shared Luís Miguel RealiD· 4 shared María Eugenia SáeziD· 4 shared Maria Jesus BullidoiD· 4 shared Merçé BoadaiD· 4 shared

Activity by Year

2020-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Ángel CarracedoORCID

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4 papers

Recent·Most cited

APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease

Jesper Qvist Thomassen, Hampton L. Leonard, Brittany Ulms, Benjamin Grenier‐Boley, Sami Heikkinen, Pablo García‐González, Atahualapa Castillo-Morales, Masataka Kikuchi, Jungsoo Gim, Han Cao, Fahri Küçükali, Najaf Amin, Dabin Yoon, Itziar de Rojas, Pilar Álvarez Jerez, , Eystein Stordal

This study performs APOE-stratified GWAS to uncover genetic mechanisms underlying Alzheimer's disease risk and response to therapies.

medRxiv · May 7, 2025 · PreprintGenetic & Genomic Medicine

Mendelian randomization confirms the role of Y-chromosome loss in Alzheimer's Disease etiopathogenesis in males

Pablo García‐González, Itziar de Rojas, Sonia Moreno–Grau, Laura Montrreal, Raquel Puerta, Emilio Alarcón‐Martín, Inés Quintela, Adela Orellana, Víctor Andrade, Pamela V. Martino Adami, Stefanie Heilmann‐Heimbach, Pilar Gómez‐Garre, María Teresa Periñán, Ignacio Álvarez, Mónica Díez-Fairén, , Agustı́n Ruiz

This study uses Mendelian randomization to show that genetic risk for mosaic loss of chromosome Y (mLOY) increases AD risk in males, but not females, suggesting mLOY directly contributes to AD pathogenesis.

medRxiv · Jul 20, 2022 · PreprintGenetic & Genomic Medicine

Autosomal Recessive Alzheimer disease (arAD): homozygosity mapping of genomic regions containing arAD loci

Sonia Moreno–Grau, María Victoria Fernández, Itziar de Rojas, Isabel Hernández, Fabiana Geraldo Farias, John Budde, Inés Quintela, Laura Madrid, Antonio González‐Pérez, Laura Montrreal, Pablo García‐González, Emilio Alarcón‐Martín, Montserrat Alegret, Olalla Maroñas, Juan Antonio Pineda, , Agustı́n Ruiz

This study identifies increased homozygosity in Alzheimer's disease cases and detects a candidate recessive variant associated with amyloid metabolism.

bioRxiv · Feb 10, 2020 · PreprintGenetics

Common variants in Alzheimer's disease: Novel association of six genetic variants with AD and risk stratification by polygenic risk scores

Itziar de Rojas, Sonia Moreno–Grau, Niccoló Tesi, Benjamin Grenier‐Boley, Víctor Andrade, Iris E. Jansen, Nancy L. Pedersen, Najada Stringa, Anna Zettergren, Isabel Hernández, Laura Montrreal, Carmen Antúnez, Anna Antonell, Rick M. Tankard, Joshua C. Bis, , Agustı́n Ruiz

This paper reports six novel genetic variants associated with Alzheimer's disease risk and demonstrates the utility of polygenic risk scores for risk stratification and age at onset prediction.

medRxiv · Jan 17, 2020 · PreprintGenetic & Genomic Medicine