Publicaciones (206) Publicaciones de Juan Antonio Botia Blaya

2024

  1. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

    Nature communications, Vol. 15, Núm. 1, pp. 2269

2023

  1. Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally

    Scientific Reports, Vol. 13, Núm. 1

  2. Artificial intelligence for dementia genetics and omics

    Alzheimer's and Dementia, Vol. 19, Núm. 12, pp. 5905-5921

  3. Cell-free RNA signatures predict Alzheimer's disease

    iScience, Vol. 26, Núm. 12

  4. Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia

    Brain : a journal of neurology, Vol. 146, Núm. 7, pp. 2869-2884

  5. GenoDrawing: An Autoencoder Framework for Image Prediction from SNP Markers

    Plant Phenomics, Vol. 5

  6. IntroVerse: a comprehensive database of introns across human tissues

    Nucleic acids research, Vol. 51, Núm. D1, pp. D167-D178

  7. The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease

    Brain : a journal of neurology, Vol. 146, Núm. 12, pp. 4974-4987

2022

  1. A predictive model for hospitalization and survival to COVID-19 in a retrospective population-based study

    Scientific Reports, Vol. 12, Núm. 1

  2. A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies

    Neuropathology and Applied Neurobiology, Vol. 48, Núm. 1

  3. Bioinformatic approach for the discovery of cis-eQTL signals during fruit ripening of a woody species as grape (Vitis vinifera L.)

    Scientific Reports, Vol. 12, Núm. 1

  4. Corrigendum to “589P Dynamics of peripheral blood immune profiling associated with tumour progression in metastatic castration resistant prostate cancer (mCRPC)”: [Annals of Oncology 32 suppl. 5 (2021) S637-S638] (Annals of Oncology (2021) 32 suppl. 5(S637-S638) (S0923753421033317), (10.1016/j.annonc.2021.08.1102))

    Annals of Oncology

  5. Leveraging omic features with F3UTER enables identification of unannotated 3’UTRs for synaptic genes

    Nature Communications, Vol. 13, Núm. 1

  6. Multi-modality machine learning predicting Parkinson’s disease

    npj Parkinson's Disease, Vol. 8, Núm. 1

  7. Multivariate Feature Ranking With High-Dimensional Data for Classification Tasks

    IEEE Access, Vol. 10, pp. 60421-60437

  8. PhenoExam: gene set analyses through integration of different phenotype databases

    BMC Bioinformatics, Vol. 23, Núm. 1

2021

  1. A genetic link between risk for Alzheimer’s disease and severe COVID-19 outcomes via the OAS1 gene

    Brain, Vol. 144, Núm. 12, pp. 3727-3741

  2. ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype

    Human Genetics, Vol. 140, Núm. 10, pp. 1471-1485

  3. An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein

    Cell Reports, Vol. 35, Núm. 10

  4. CoExp: A Web Tool for the Exploitation of Co-expression Networks

    Frontiers in Genetics, Vol. 12