Publications by authors named "Juan Botia"

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PhenoLinker: Phenotype-gene link prediction and explanation using heterogeneous graph neural networks.
Jose L Mellina Andreu, Luis Bernal, Antonio F Skarmeta, Mina Ryten, Sara Álvarez

Artif Intell Med· September 2025

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Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson's disease risk.
Alejandro Cisterna-Garcia, Bernabe I Bustos, Sara Bandres-Ciga, Thiago P Leal, Elif I Sarihan, Juan A Botia

Brain· June 2025

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Human longevity and Alzheimer's disease variants act via microglia and oligodendrocyte gene networks.
Andrew C Graham, Eftychia Bellou, Janet C Harwood, Umran Yaman, Meral Celikag, Juan A Botia

Brain· March 2025

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Identifying risk factors and predicting long COVID in a Spanish cohort.
Antonio Guillén-Teruel, Jose L Mellina-Andreu, Gabriel Reina, Enrique González-Billalabeitia, Ramón Rodriguez-Iborra

Sci Rep· March 2025

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Circulating blood circular RNA in Parkinson's Disease; from involvement in pathology to diagnostic tools in at-risk individuals.
Aleksandra Beric, Yichen Sun, Santiago Sanchez, Charissa Martin, Tyler Powell, Juan A Botia

NPJ Parkinsons Dis· November 2024

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Plasma acellular transcriptome contains Parkinson's disease signatures that can inform clinical diagnosis.
Aleksandra Beric, Alejandro Cisterna-García, Charissa Martin, Ravindra Kumar, Isabel Alfradique-Dunham, Juan Botia

medRxiv· October 2024

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Prognostic Implications of Blood Immune-Cell Composition in Metastatic Castration-Resistant Prostate Cancer.
Enrique Perez-Navarro, Vincenza Conteduca, Juan M Funes, Jose I Dominguez, Miguel Martin-Serrano, Juan A Botia

Cancers (Basel)· July 2024

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Paired plasma lipidomics and proteomics analysis in the conversion from mild cognitive impairment to Alzheimer's disease.
Alicia Gómez-Pascual, Talel Naccache, Jin Xu, Kourosh Hooshmand, Asger Wretlind

Comput Biol Med· June 2024

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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra

Nat Commun· March 2024

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Circulating blood circular RNA in Parkinson's Disease; a systematic study.
Aleksandra Beric, Yichen Sun, Santiago Sanchez, Charissa Martin, Tyler Powell, Juan A Botia

medRxiv· January 2024

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The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease.
Amy R Hicks, Regina H Reynolds, Benjamin O'Callaghan, Sonia García-Ruiz, Ana Luisa Gil-Martínez

Brain· December 2023

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Artificial intelligence for dementia genetics and omics.
Conceicao Bettencourt, Nathan Skene, Sara Bandres-Ciga, Emma Anderson, Laura M Winchester, Juan A Botia

Alzheimers Dement· December 2023

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Cell-free RNA signatures predict Alzheimer's disease.
Alejandro Cisterna-García, Aleksandra Beric, Muhammad Ali, Jose Adrian Pardo, Hsiang-Han Chen, Juan A Botia

iScience· December 2023

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GenoDrawing: An Autoencoder Framework for Image Prediction from SNP Markers.
Federico Jurado-Ruiz, David Rousseau, Juan A Botía, Maria José Aranzana

Plant Phenomics· November 2023

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Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally.
Karishma D'Sa, Sebastian Guelfi, Jana Vandrovcova, Regina H Reynolds, David Zhang

Sci Rep· August 2023

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Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Zhongbo Chen, Arianna Tucci, Valentina Cipriani, Emil K Gustavsson, Kristina Ibañez

Brain· July 2023

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Genome-wide association study stratified by haplotypes identifies potential novel loci in Parkinson's disease.
Konstantin Senkevich, Sara Bandres-Ciga, Alejandro Cisterna-García, Eric Yu, Bernabe I Bustos

medRxiv· April 2023

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IntroVerse: a comprehensive database of introns across human tissues.
Sonia García-Ruiz, Emil K Gustavsson, David Zhang, Regina H Reynolds, Zhongbo Chen, Juan A Botia

Nucleic Acids Res· January 2023

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PhenoExam: gene set analyses through integration of different phenotype databases.
Alejandro Cisterna, Aurora González-Vidal, Daniel Ruiz, Jordi Ortiz, Alicia Gómez-Pascual

BMC Bioinformatics· December 2022

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A predictive model for hospitalization and survival to COVID-19 in a retrospective population-based study.
Alejandro Cisterna-García, Antonio Guillén-Teruel, Marcos Caracena, Enrique Pérez, Fernando Jiménez

Sci Rep· October 2022

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Bioinformatic approach for the discovery of cis-eQTL signals during fruit ripening of a woody species as grape (Vitis vinifera L.).
Pedro José Martínez-García, Jorge Mas-Gómez, Jill Wegrzyn, Juan A Botía

Sci Rep· May 2022

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Multi-modality machine learning predicting Parkinson's disease.
Mary B Makarious, Hampton L Leonard, Dan Vitale, Hirotaka Iwaki, Lana Sargent, Juan A Botia

NPJ Parkinsons Dis· April 2022

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Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes.
Siddharth Sethi, David Zhang, Sebastian Guelfi, Zhongbo Chen, Sonia Garcia-Ruiz, Juan A Botia

Nat Commun· April 2022

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A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene.
Naciye Magusali, Andrew C Graham, Thomas M Piers, Pantila Panichnantakul, Umran Yaman, Juan A Botia

Brain· December 2021

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ASL expression in ALDH1A1 neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
Shaul Lerner, Raya Eilam, Lital Adler, Julien Baruteau, Topaz Kreiser, Juan A Botia

Hum Genet· October 2021

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