Author

Ruben Zapata Perez

Amsterdam UMC Location University of AmsterdamORCID 0000-0003-4432-9652Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 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

Astrid S. PlompiD· 1 shared Frank BaasiD· 1 shared Hans R. WaterhamiD· 1 shared Iliana A. Chatzispyrou· 1 shared Janet Koster· 1 shared Johan H. AuwerxiD· 1 shared Johannes N. SpelbrinkiD· 1 shared Laurent MouchiroudiD· 1 shared

Activity by Year

2017-2017 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Astrid S. PlompORCID

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1 paper

Recent·Most cited

GeneticsHuman Molecular GeneticsPeer-reviewedApr 20, 2017

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

Iliana A. Chatzispyrou, Marielle M. Alders, Sergio Guerrero‐Castillo…·Astrid S. Plomp

This study identifies a homozygous ERAL1 mutation as the cause of Perrault syndrome, showing it disrupts mitochondrial ribosome assembly and function.

79 citations

humanwhole-exome sequencing

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