Author

Elena Martínez‐Cayuelas

Hospital Universitario Fundación Jiménez DíazORCID 0000-0001-7375-9657Unclaimed 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:differential expression· 1

Frequent Co-Authors

Berta AlmogueraiD· 2 shared Aitor López-González· 1 shared Alberto Fernández‐JaéniD· 1 shared Allan BayatiD· 1 shared Ana Arteche‐LópeziD· 1 shared Anna Maria Cueto-GonzáleziD· 1 shared Antonio Federico Martínez‐MonsenyiD· 1 shared Beatriz Martínez-Menéndez· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Berta AlmogueraORCID

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2 papers

Recent·Most cited

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

Karen Jaqueline Low, Julia Foreman, Rachel J. Hobson, Hannah Kwuo, Elena Martínez‐Cayuelas, Berta Almoguera, Purificación Marín Reina, Stefano Giuseppe Caraffi, Livia Garavelli, Emily Woods, Meena Balasubramanian, Allan Bayat, Charlotte W. Ockeloen, Charlotte Margaret Wright, Helen V. Firth, Tim James Cole

The paper introduces the LMSz method to construct gene-specific growth charts for rare disorders using z-scores, showing gene-specific centiles and trends in anthropometric data.

European Journal of Human Genetics · Oct 12, 2025Peer-reviewedGenetic & Genomic Medicine

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, Saoud Tahsin Swafiri, Rosario López‐Rodríguez, Rebeca Losada-Del Pozo, Ignacio Mahíllo, Beatriz Moreno, María Rodrigo-Moreno, Dídac Casas‐Alba, Aitor López-González, Sixto García‐Miñáur, María Ángeles Mori, Marta Pacio Miguez, Emi Rikeros‐Orozco, , 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.

Journal of Medical Genetics · Nov 29, 2022Peer-reviewedGenetic & Genomic Medicine