Author

Jana Domínguez‐Carral

Universitat Autònoma de BarcelonaORCID 0000-0002-7197-7391Unclaimed 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

Anna RuiziD· 1 shared Ariadna Ramírez-MallafréiD· 1 shared Carme Brun i GascaiD· 1 shared Cinthia AguileraiD· 1 shared Elisabeth GabauiD· 1 shared Míriam Guitart· 1 shared Natàlia PadillaiD· 1 shared Neus BaenaiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Anna RuizORCID

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1 paper

Recent·Most cited

GeneticsPLoS ONEPeer-reviewedOct 15, 2021

New genes involved in Angelman syndrome-like: expanding the genetic spectrum

Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramírez-Mallafré…·Anna Ruiz

The paper identifies new genetic variants in patients with Angelman syndrome-like features, expanding the known genetic spectrum and highlighting genetic heterogeneity.

23 citations

humanwhole-exome sequencing

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