Author

Isabel Lorda‐Sánchez

Instituto de Salud Carlos III

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

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 MadrigaliD· 2 shared Irene ValenzuelaiD· 2 shared

Activity by Year

2022-2025 · 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

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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 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

𝕏 PostBluesky