Author

Alba Tristán‐Noguero

Hospital Sant Joan de Déu BarcelonaORCID 0000-0002-0170-9762Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1

Frequent Co-Authors

Àngels García‐CazorlaiD· 2 shared Salvador Ibáñez‐MicóiD· 2 shared Alberto Fernández‐JaéniD· 1 shared Àlex BayésiD· 1 shared Alfons MacayaiD· 1 shared Amaia Lasa‐AranzastiiD· 1 shared Ana Camacho· 1 shared Analı́a A BortolozziiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Àngels García‐CazorlaORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genotype-Phenotype Correlations and Putative Modifier Genes in SYNGAP1 Encephalopathy

Selena Aranda, Juliana Ribeiro‐Constante, Alba Tristán‐Noguero, Nerea Moreno‐Ruiz, C. Arenas, Fernando Francisco Martínez Calvo, Salvador Ibáñez‐Micó, José Luis Peña Segura, José Miguel Ramos‐Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Victor Miguel Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández‐Jaén, , Marina Mitjans

This study investigates genotype-phenotype correlations in SYNGAP1 Encephalopathy, finding that variant location and type, along with modifier genes, influence clinical severity and autistic traits.

Neurobiology of Disease · Mar 17, 2026Peer-reviewedGenetic & Genomic Medicine

iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

Alba Tristán‐Noguero, Irene Fernández‐Carasa, Carles Calatayud, Cristina Bermejo‐Casadesús, Meritxell Pons‐Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analı́a A Bortolozzi, Rosario Domingo Jiménez, Salvador Ibáñez‐Micó, Mercè Pineda, Rafael Artuch, Ángel Raya, Àngels García‐Cazorla, Antonella Consiglio

This study uses iPSC-derived dopaminergic neurons to model THD, showing disease-specific phenotypes and treatment responses.

EMBO Molecular Medicine · Feb 6, 2023Peer-reviewedNeuroscience