Author

Daniel Grinberg

Instituto de Salud Carlos IIIORCID 0000-0001-9859-2590Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Assay:proteomics· 1

Frequent Co-Authors

Aina Prat-PlanasiD· 2 shared Mónica Centeno-PlaiD· 2 shared Raquel RabionetiD· 2 shared Roser UrreiztiiD· 2 shared Susana BalcellsiD· 2 shared Ana Arteche‐LópeziD· 1 shared Antonio Federico Martínez‐MonsenyiD· 1 shared Carmen Palma MillaiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersMolecular Biology

Aina Prat-PlanasORCID

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2 papers

Recent·Most cited

Molecular BiologybioRxivPreprintJan 22, 2024

Subcellular localization of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson…·Susana Balcells

The paper investigates the subcellular localization of truncated MAGEL2 proteins in Schaaf-Yang syndrome, finding that all truncated variants predominantly localize to the nucleus, with more severe clinical features associated with greater nuclear retention.

DOI 10.1101/2024.01.22.576607

humanproteomics

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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

𝕏 PostBluesky