Author

Nicolás Pérez‐Fernández

Clinica Universidad de NavarraORCID 0000-0002-1192-5901Unclaimed 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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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alba Escalera‐BalseraiD· 1 shared Alberto M. Parra‐PereziD· 1 shared Alvaro Gallego‐MartineziD· 1 shared Andreas H. EckhardiD· 1 shared Andrés Soto-VarelaiD· 1 shared David BächingeriD· 1 shared Ismael ArániD· 1 shared Jose Antonio Lopez-EscameziD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alba Escalera‐BalseraORCID

Mutual co-authors in cluster

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1 paper

Recent·Most cited

Ultrarare missense and frameshift variants in the TECTA gene may involve tectorial membrane in familial Meniere disease

Pablo Román-Naranjo, Alberto M. Parra‐Perez, Alba Escalera‐Balsera, Andrés Soto-Varela, Alvaro Gallego‐Martinez, Ismael Arán, Nicolás Pérez‐Fernández, David Bächinger, Andreas H. Eckhard, Rocío González Aguado, Lidia Frejo, Jose Antonio Lopez-Escamez

The paper identifies rare variants in the TECTA gene associated with familial Meniere disease and suggests their impact on tectorial membrane stability.

Clinical and Translational Medicine · Jun 1, 2022Peer-reviewedGenetic & Genomic Medicine