Author

Miguel Angel Martín

Instituto de Salud Carlos IIIORCID 0000-0003-4741-772XUnclaimed 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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Organism:human· 2 Research Focus:differential expression· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Antonio Federico Martínez‐MonsenyiD· 2 shared Dídac Casas‐AlbaiD· 2 shared Emma Soengas‐GondaiD· 2 shared Fernando Santos‐SimarroiD· 2 shared Irene RodrígueziD· 2 shared María Palomares‐BraloiD· 2 shared Roser UrreiztiiD· 2 shared Verónica Seidel· 2 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Antonio Federico Martínez‐MonsenyORCID

Mutual co-authors in cluster

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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 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