An Approach for Representing Sensor Data to Validate Alerts in Ambient Assisted Living

por Muñoz, Andrés, Serrano, Emilio, Villa, Ana, Valdés, Mercedes, Botía, Juan A.
Publicado 2012

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

por Martínez-García, Pedro José, Mas-Gómez, Jorge, Wegrzyn, Jill, Botía, Juan A.
Publicado 2022

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

por Sethi, Siddharth, Zhang, David, Guelfi, Sebastian, Chen, Zhongbo, Garcia-Ruiz, Sonia, Olagbaju, Emmanuel O., Ryten, Mina, Saini, Harpreet, Botia, Juan A.
Publicado 2022

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks

por Botía, Juan A., Vandrovcova, Jana, Forabosco, Paola, Guelfi, Sebastian, D’Sa, Karishma, Hardy, John, Lewis, Cathryn M., Ryten, Mina, Weale, Michael E.
Publicado 2017

Genome-wide association study stratified by MAPT haplotypes identifies potential novel loci in Parkinson’s disease

por Senkevich, Konstantin, Bandres-Ciga, Sara, Cisterna-García, Alejandro, Yu, Eric, Bustos, Bernabe I., Krohn, Lynne, Lubbe, Steven J., Botía, Juan A., Gan-Or, Ziv
Publicado 2023

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

por Ferrari, Raffaele, Forabosco, Paola, Vandrovcova, Jana, Botía, Juan A., Guelfi, Sebastian, Warren, Jason D., Momeni, Parastoo, Weale, Michael E., Ryten, Mina, Hardy, John
Publicado 2016

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

por García-Ruiz, Sonia, Gil-Martínez, Ana L., Cisterna, Alejandro, Jurado-Ruiz, Federico, Reynolds, Regina H., Cookson, Mark R., Hardy, John, Ryten, Mina, Botía, Juan A.
Publicado 2021

Gene co-expression networks shed light into diseases of brain iron accumulation

por Bettencourt, Conceição, Forabosco, Paola, Wiethoff, Sarah, Heidari, Moones, Johnstone, Daniel M., Botía, Juan A., Collingwood, Joanna F., Hardy, John, Milward, Elizabeth A., Ryten, Mina, Houlden, Henry
Publicado 2016

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

por Salpietro, Vincenzo, Zollo, Massimo, Vandrovcova, Jana, Ryten, Mina, Botia, Juan A, Ferrucci, Veronica, Manole, Andreea, Efthymiou, Stephanie, Al Mutairi, Fuad, Bertini, Enrico, Tartaglia, Marco, Houlden, Henry
Publicado 2017

Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights

por Sánchez, Juan A, Gil-Martinez, Ana L, Cisterna, Alejandro, García-Ruíz, Sonia, Gómez-Pascual, Alicia, Reynolds, Regina H, Nalls, Mike, Hardy, John, Ryten, Mina, Botía, Juan A
Publicado 2021

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

por D’Sa, Karishma, Guelfi, Sebastian, Vandrovcova, Jana, Reynolds, Regina H., Zhang, David, Hardy, John, Botía, Juan A., Weale, Michael E., Taliun, Sarah A. Gagliano, Small, Kerrin S., Ryten, Mina
Publicado 2023

Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson’s disease pathogenesis

por Hughes, Craig D., Choi, Minee L., Ryten, Mina, Hopkins, Lee, Drews, Anna, Botía, Juan A., Iljina, Maria, Rodrigues, Margarida, Gagliano, Sarah A., Gandhi, Sonia, Bryant, Clare, Klenerman, David
Publicado 2018

IntroVerse: a comprehensive database of introns across human tissues

por García-Ruiz, Sonia, Gustavsson, Emil K, Zhang, David, Reynolds, Regina H, Chen, Zhongbo, Fairbrother-Browne, Aine, Gil-Martínez, Ana Luisa, Botia, Juan A, Collado-Torres, Leonardo, Ryten, Mina
Publicado 2022

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

por Cisterna-García, Alejandro, Guillén-Teruel, Antonio, Caracena, Marcos, Pérez, Enrique, Jiménez, Fernando, Francisco-Verdú, Francisco J., Reina, Gabriel, González-Billalabeitia, Enrique, Palma, José, Sánchez-Ferrer, Álvaro, Botía, Juan A.
Publicado 2022

PhenoExam: gene set analyses through integration of different phenotype databases

por Cisterna, Alejandro, González-Vidal, Aurora, Ruiz, Daniel, Ortiz, Jordi, Gómez-Pascual, Alicia, Chen, Zhongbo, Nalls, Mike, Faghri, Faraz, Hardy, John, Díez, Irene, Maietta, Paolo, Álvarez, Sara, Ryten, Mina, Botía, Juan A.
Publicado 2022

Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders

por Mencacci, Niccolò E, Reynolds, Regina H, Ruiz, Sonia Garcia, Vandrovcova, Jana, Forabosco, Paola, Sánchez-Ferrer, Alvaro, Volpato, Viola, Weale, Michael E, Bhatia, Kailash P, Webber, Caleb, Hardy, John, Botía, Juan A, Ryten, Mina
Publicado 2020

Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

por Zhang, David, Guelfi, Sebastian, Garcia-Ruiz, Sonia, Costa, Beatrice, Reynolds, Regina H., D’Sa, Karishma, Liu, Wenfei, Courtin, Thomas, Peterson, Amy, Jaffe, Andrew E., Hardy, John, Botía, Juan A., Collado-Torres, Leonardo, Ryten, Mina
Publicado 2020

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

por Chelban, Viorica, Patel, Nisha, Vandrovcova, Jana, Zanetti, M. Natalia, Lynch, David S., Ryten, Mina, Botía, Juan A., Bello, Oscar, Tribollet, Eloise, Efthymiou, Stephanie, Davagnanam, Indran, Bashiri, Fahad A., Wood, Nicholas W., Rothman, James E., Alkuraya, Fowzan S., Houlden, Henry
Publicado 2017

A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function

por Salpietro, Vincenzo, Efthymiou, Stephanie, Manole, Andreea, Maurya, Bhawana, Wiethoff, Sarah, Ashokkumar, Balasubramaniem, Cutrupi, Maria Concetta, Dipasquale, Valeria, Manti, Sara, Botia, Juan A., Ryten, Mina, Vandrovcova, Jana, Bello, Oscar D., Bettencourt, Conceicao, Mankad, Kshitij, Mukherjee, Ashim, Mutsuddi, Mousumi, Houlden, Henry
Publicado 2017

Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions

por Liu, Wenfei, Taso, Orjona, Wang, Rui, Bayram, Sevinc, Graham, Andrew C, Garcia-Reitboeck, Pablo, Mallach, Anna, Andrews, William D, Piers, Thomas M, Botia, Juan A, Pocock, Jennifer M, Cummings, Damian M, Hardy, John, Edwards, Frances A, Salih, Dervis A
Publicado 2020