Author

Ibai Goicoechea

Gobierno de NavarraORCID 0000-0002-5329-2225Unclaimed 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:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Rosario CarmonaiD· 2 shared Sergi BeltrániD· 2 shared Virginia AquinoiD· 2 shared Agatha SchlüteriD· 1 shared Agustí Rodríguez‐PalmeroiD· 1 shared Alberto MailloiD· 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 · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Rosario CarmonaORCID

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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

Characterization of the common genetic variation in the Spanish population of Navarre

Alberto Maillo, Estefania Huergo, María Apellániz-Ruiz, Edurne Urrutia Lafuente, María Miranda, Josefa Salgado, Sara Pasalodos-Sánchez, Luna Delgado-Mora, Óscar Teijido, Ibai Goicoechea, Rosario Carmona, Javier Pérez-Florido, Virginia Aquino, Daniel López-López, María Peña-Chilet, , David Gómez-Cabrero

The paper characterizes common genetic variants in the Navarre population, identifying 1,069 SNVs common in Navarre but rare in other populations.

Genes · May 4, 2024Peer-reviewedGenetic & Genomic Medicine