Juan A Botía (J A Botia, Juan A Botia)

Scopus Author ID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 19

Top Topics

Dna Methylation

Genome Wide Association Study

Histone Deacetylase

Top Venues

Nature communications

BMC bioinformatics

medRxiv : the preprint server for health sciences

Plant phenomics (Washington, D.C.)

This page only lists publications with an associated author ORCID identifier.

Publications

Aleksandra Beric, Yichen Sun, Santiago Sanchez, Charissa Martin, Tyler Powell, Jose Adrian Pardo, Jessie Sanford, Juan A Botía, Cruchaga Carlos, Ibanez Laura
Circulating blood circular RNA in Parkinson's Disease; a systematic study. medRxiv : the preprint server for health sciences (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Aleksandra Beric, Yichen Sun, Santiago Sanchez, Charissa Martin, Tyler Powell, Jose Adrian Pardo, Jessie Sanford, Juan A Botía, Cruchaga Carlos, Ibanez Laura
Circulating blood circular RNA in Parkinson's Disease; a systematic study. medRxiv : the preprint server for health sciences (2024)
Federico Jurado-Ruiz, David Rousseau, Juan A Botía, María José Aranzana
GenoDrawing: An Autoencoder Framework for Image Prediction from SNP Markers. Plant phenomics (Washington, D.C.) 5 (2023)
Konstantin Senkevich, Sara Bandres-Ciga, Alejandro Cisterna-García, Eric Yu, Bernabe I Bustos, Lynne Krohn, Steven J Lubbe, Juan A Botía, null null, Ziv Gan-Or
Genome-wide association study stratified by MAPT haplotypes identifies potential novel loci in Parkinson's disease. medRxiv : the preprint server for health sciences (2023)
Federico Jurado-Ruiz, David Rousseau, Juan A Botía, María José Aranzana
GenoDrawing: An Autoencoder Framework for Image Prediction from SNP Markers. Plant phenomics (Washington, D.C.) 5 (2023)
Sonia Garcia-Ruiz, David Zhang, Emil Karl Gustavsson, G Rocamora-Perez, Melissa Grant-Peters, Aine Fairbrother-Browne, Regina Hertfelder Reynolds, Jonathan William Brenton, Ana Luisa Gil-Martinez, Zhongbo Chen, Donald C Rio, Juan A Botía, Mar Matarin, Leonardo Collado-Torres, Mina Ryten
Splicing accuracy varies across human introns, tissues and age. bioRxiv : the preprint server for biology (2023)
Alejandro Cisterna, Aurora González-Vidal, Daniel Ruiz, Jordi Ortiz, Alicia Gómez-Pascual, Zhongbo Chen, Mike Nalls, Faraz Faghri, John Hardy, Irene Díez, Paolo Maietta, Sara Álvarez, Mina Ryten, Juan A Botía
PhenoExam: gene set analyses through integration of different phenotype databases. BMC bioinformatics 23 (1) (2022)
Alejandro Cisterna, Aurora González-Vidal, Daniel Ruiz, Jordi Ortiz, Alicia Gómez-Pascual, Zhongbo Chen, Mike Nalls, Faraz Faghri, John Hardy, Irene Díez, Paolo Maietta, Sara Álvarez, Mina Ryten, Juan A Botía
PhenoExam: gene set analyses through integration of different phenotype databases. BMC bioinformatics 23 (1) (2022)
Alejandro Cisterna, Aurora González-Vidal, Daniel Ruiz, Jordi Ortiz, Alicia Gómez-Pascual, Zhongbo Chen, Mike Nalls, Faraz Faghri, John Hardy, Irene Díez, Paolo Maietta, Sara Álvarez, Mina Ryten, Juan A Botía
PhenoExam: gene set analyses through integration of different phenotype databases. BMC bioinformatics 23 (1) (2022)
Alejandro Cisterna, Aurora González-Vidal, Daniel Ruiz, Jordi Ortiz, Alicia Gómez-Pascual, Zhongbo Chen, Mike Nalls, Faraz Faghri, John Hardy, Irene Díez, Paolo Maietta, Sara Álvarez, Mina Ryten, Juan A Botía
PhenoExam: gene set analyses through integration of different phenotype databases. BMC bioinformatics 23 (1) (2022)
Naciye Magusali, Andrew C Graham, Thomas M Piers, Pantila Panichnantakul, Umran Yaman, Maryam Shoai, Regina Hertfelder Reynolds, Juan A Botía, Keeley J Brookes, Tamar Guetta-Baranes, Eftychia Bellou, Sevinc Bayram, Dimitra Sokolova, Mina Ryten, Carlo Sala Frigerio, Valentina Escott-Price, Kevin Morgan, Jennifer M Pocock, John A Hardy, Dervis A Salih
A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene. Brain : a journal of neurology (2021)
David Zhang, Sebastian Guelfi, Sonia Garcia-Ruiz, Beatrice Costa, Regina Hertfelder Reynolds, Karishma D'Sa, Wenfei Liu, Thomas Courtin, Amy Peterson, Andrew E Jaffe, John A Hardy, Juan A Botía, Leonardo Collado-Torres, Mina Ryten
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders. Science advances 6 (24) (2020)
Juan A Botía, Jana Vandrovcova, Paola Forabosco, Sebastian Guelfi, Karishma D'Sa, null null, John Hardy, Cathryn M Lewis, Mina Ryten, Michael E Weale
An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks. BMC systems biology 11 (1) (2017)