Author

Nerea Moreno‐Ruiz

Universitat Pompeu FabraORCID 0000-0002-9636-0179Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alba Tristán‐NogueroiD· 1 shared Alberto Fernández‐JaéniD· 1 shared Àlex BayésiD· 1 shared Alfons MacayaiD· 1 shared Amaia Lasa‐AranzastiiD· 1 shared Ana Camacho· 1 shared Àngels García‐CazorlaiD· 1 shared Anna Maria Cueto-GonzáleziD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alba Tristán‐NogueroORCID

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1 paper

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