Author

Anna Maria Cueto-González

Vall d'Hebron Institut de RecercaORCID 0000-0001-7694-6124Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Organism:human· 3 Approach:statistical model· 3 Research Focus:gene regulatory network inference· 2 Organism:Drosophila· 1 Research Focus:drug response / drug discovery· 1 Assay:electronic health records· 1 Approach:experimental assay· 1

Frequent Co-Authors

Alberto Fernández‐JaéniD· 2 shared Irene ValenzuelaiD· 2 shared Aitor López-González· 1 shared Alali AbdulrazakiD· 1 shared Alba Tristán‐NogueroiD· 1 shared Alban C. ZiegleriD· 1 shared Àlex BayésiD· 1 shared Alfons MacayaiD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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2 shared papersGenetic & Genomic Medicine

Alberto Fernández‐JaénORCID

Mutual co-authors in cluster

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3 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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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedNov 26, 2025

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden…·Marta Codina‐Solà

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

3 citations

humanrat

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Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedNov 29, 2022

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

Elena Martínez‐Cayuelas, Fiona Blanco‐Kelly, Fermina López‐Grondona…·Berta Almoguera

This paper describes the clinical and molecular features of 67 new KBG syndrome patients, identifies genotype-phenotype correlations, and proposes updated diagnostic criteria.

24 citations

humanstatistical model

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