Author

Mercedes Serrano

Hospital Sant Joan de Déu BarcelonaORCID 0000-0002-2056-2428Unclaimed 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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Organism:human· 3 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Aina Prat-PlanasiD· 1 shared Alba Tristán‐NogueroiD· 1 shared Alberto DanieliiD· 1 shared Alberto Fernández‐JaéniD· 1 shared Àlex BayésiD· 1 shared Alexandra LautarescuiD· 1 shared Alfons MacayaiD· 1 shared Amaia Lasa‐AranzastiiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 14 mutual co-author links

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

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1 shared paperGenetic & Genomic Medicine

Aina Prat-PlanasORCID

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 MedicineBMJ OpenPeer-reviewedJun 1, 2024

European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry

Madeleine Bloomfield, Alexandra Lautarescu, Síofra Heraty…·Tony Charman

EAGER establishes a registry of autistic individuals and those with rare genetic conditions for genomic and phenotypic research, aiming to improve clinical trials and health outcomes through data sharing.

5 citations

humanwhole-genome sequencing

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Genetic & Genomic MedicinemedRxivPreprintDec 13, 2023

Expanding the phenotypic spectrum of TRAF7 syndrome: report of eleven new cases and literature review.

Carmen Palma Milla, Aina Prat-Planas, Emma Soengas‐Gonda…·Roser Urreizti

This paper reports eleven new TRAF7 syndrome cases, expands the phenotypic spectrum, and highlights clinical complications requiring tailored management.

DOI 10.1101/2023.12.13.23299272

human

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