Author

Francesc Palau

Hospital Sant Joan de Déu BarcelonaORCID 0000-0002-8635-5421Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

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 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Roser UrreiztiiD· 2 shared Abraham José Paredes-FuentesiD· 1 shared Afshin FayaziiD· 1 shared Agatha SchlüteriD· 1 shared Agustí Rodríguez‐PalmeroiD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Alejandra DamiániD· 1 shared Ana VegaiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Roser UrreiztiORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 16, 2025

Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs

Marta Sevilla Porras, Esther Nieto-Molina, Zahara Medina…·Mireia del Toro

The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintNov 27, 2024

CLINICAL AND MOLECULAR CHARACTERISATION OF SLC31A1-RELATED NEURODEVELOPMENTAL DISORDER.

Natalia Juliá‐Palacios, Gerard Muñoz‐Pujol, Reza Maroofian…·Roser Urreizti

This study characterizes a neurodevelopmental disorder caused by bi-allelic SLC31A1 mutations, showing severe clinical features and mitochondrial dysfunction.

DOI 10.1101/2024.11.27.24317634

humanbulk RNA-seq

𝕏 PostBluesky