Author

Juan Macı́as

Hospital Universitario de ValmeORCID 0000-0002-4778-790XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Adelina OrellanaiD· 3 shared Agustı́n RuiziD· 3 shared Ángel CarracedoiD· 3 shared Emilio Alarcón‐MartíniD· 3 shared Inés QuintelaiD· 3 shared Isabel HernándeziD· 3 shared Itziar de RojasiD· 3 shared Laura MontrrealiD· 3 shared

Activity by Year

2019-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Adelina OrellanaORCID

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3 papers

Recent·Most cited

GeneticsbioRxivPreprintFeb 10, 2020

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

Sonia Moreno–Grau, María Victoria Fernández, Itziar de Rojas…·Agustı́n Ruiz

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

DOI 10.1101/2020.02.10.941393

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJan 17, 2020

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…·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.

28 citations

humanGWAS summary statistics

𝕏 PostBluesky

NeuroscienceAlzheimer s & DementiaPeer-reviewedAug 28, 2019

Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer disease and three causality networks of AD: the GR@ACE project.

Sonia Moreno–Grau, Itziar de Rojas, Isabel Hernández…·Mario Carrión‐Claro

The paper performs a genome-wide association study of dementia and its endophenotypes, identifying novel loci and causal networks related to Alzheimer's disease.

164 citationstop 1%

humanGWAS summary statistics

𝕏 PostBluesky