Author

Juliana Ribeiro‐Constante

Hospital Sant Joan de Déu BarcelonaORCID 0009-0001-5912-0555Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Àngels García‐CazorlaiD· 2 shared Alba Tristán‐NogueroiD· 1 shared Alberto Fernández‐JaéniD· 1 shared Àlex BayésiD· 1 shared Alfons MacayaiD· 1 shared Alfonso OyarzábaliD· 1 shared Amaia Lasa‐AranzastiiD· 1 shared Ana Camacho· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Àngels García‐CazorlaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNeurobiology of DiseasePeer-reviewedMar 17, 2026

Genotype-Phenotype Correlations and Putative Modifier Genes in SYNGAP1 Encephalopathy

Selena Aranda, Juliana Ribeiro‐Constante, Alba Tristán‐Noguero…·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.

2 citationstop 3%

humanstatistical model

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GeneticsbioRxivPreprintJan 23, 2026

Synaptic networks shape clinical phenotypes in neurodevelopmental disorders: An integrative clinical, genetic and biological perspective

Juliana Ribeiro‐Constante, Júlia Romagosa, Alfonso Oyarzábal…·Àngels García‐Cazorla

This paper integrates genetic, synaptic, and developmental expression data to show how synaptic characteristics influence clinical phenotypes in neurodevelopmental disorders.

1 citation

humanbulk RNA-seq

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