Author

María Isabel Álvarez‐Mora

Instituto de Salud Carlos IIIORCID 0000-0003-3788-8915Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:statistical model· 2 Approach:experimental assay· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Irene MadrigaliD· 3 shared Antonio Federico Martínez‐MonsenyiD· 2 shared Berta AlmogueraiD· 2 shared Carmen Gómez‐LadoiD· 2 shared Dídac Casas‐AlbaiD· 2 shared Emi Rikeros‐OrozcoiD· 2 shared Fernando Santos‐SimarroiD· 2 shared Irene ValenzuelaiD· 2 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Irene MadrigalORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

NeurosciencebioRxivPreprintJul 7, 2026

De novo missense variants in TRIM28 identified in individuals with neurodevelopmental delay show features of transposable element activation

Laura Castilla‐Vallmanya, Ninoslav Pandiloski, Carrie Davis-Hansson…·Johan Jakobsson

TRIM28 missense variants in individuals with neurodevelopmental delay disrupt epigenetic control of transposable elements, leading to altered gene expression and neurodevelopmental defects.

DOI 10.64898/2026.07.02.735854

humanexperimental assay

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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

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Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedNov 29, 2022

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

Elena Martínez‐Cayuelas, Fiona Blanco‐Kelly, Fermina López‐Grondona…·Berta Almoguera

This paper describes the clinical and molecular features of 67 new KBG syndrome patients, identifies genotype-phenotype correlations, and proposes updated diagnostic criteria.

24 citations

humanstatistical model

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