Author

Julio Contreras

Universidad Complutense de MadridORCID 0000-0002-2145-4090Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Agnieszka J. SzczepekiD· 1 shared Alba Escalera‐BalseraiD· 1 shared Alberto M. Parra‐PereziD· 1 shared Alvaro Gallego‐MartineziD· 1 shared Andrés Soto-VarelaiD· 1 shared Ewa DomareckaiD· 1 shared Han Chow ChuaiD· 1 shared Isabel Varela‐NietoiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Agnieszka J. SzczepekORCID

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1 paper

Recent·Most cited

A rare haplotype of the GJD3 gene segregating in familial Meniere Disease interferes with connexin assembly

Alba Escalera‐Balsera, Paula Robles-Bolívar, Alberto M. Parra‐Perez, Silvia Murillo‐Cuesta, Han Chow Chua, Lourdes Rodríguez‐de la Rosa, Julio Contreras, Ewa Domarecka, Juan Carlos Amor‐Dorado, Andrés Soto-Varela, Isabel Varela‐Nieto, Agnieszka J. Szczepek, Alvaro Gallego‐Martinez, Jose Antonio Lopez-Escamez

The paper identifies a rare GJD3 haplotype associated with familial Meniere Disease, showing it disrupts connexin assembly and affects inner ear function.

medRxiv · Jan 16, 2024 · PreprintGenetic & Genomic Medicine