Author

Agustí Rodríguez‐Palmero

Instituto de Salud Carlos IIIORCID 0000-0002-4141-5515Unclaimed 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 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:imaging· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Antonio Federico Martínez‐MonsenyiD· 2 shared Agatha SchlüteriD· 1 shared Alejandra DamiániD· 1 shared Alessandro Mauro SpinelliiD· 1 shared Alexander HustinxiD· 1 shared Alexej KnausiD· 1 shared Amaia Lasa‐AranzastiiD· 1 shared Amal Mohamed· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Antonio Federico Martínez‐MonsenyORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

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

Marta Sevilla Porras, Esther Nieto-Molina, Zahara Medina, Alejandra Damián, Juan R. Tejedor, Carlos Ruiz-Arenas, Mario Cazalla, Rosario Carmona, Jorge Amigo, Ibai Goicoechea, Raúl Tonda, Gemma Bullich, Sergi Beltrán, Noemí Toro-Barrios, Virginia Aquino, , Mireia del Toro

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

medRxiv · Sep 16, 2025 · PreprintGenetic & Genomic Medicine

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine J. Marchi, Pilar Caro, Ibrahim M. Abdelrazek, Jean Tori Pantel, Merle ten Hagen, Meow‐Keong Thong, Rifhan Azwani Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jingmei Li, , Miray Karakoyun

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

medRxiv · Jun 6, 2023 · PreprintGenetic & Genomic Medicine