Author

Malena Daich Varela

Moorfields Eye HospitalORCID 0000-0003-4960-4510Unclaimed ORCID profile · follow to get notified of new preprints

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Genetic & Genomic Medicine· 1

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Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alfredo Dueñas ReyiD· 1 shared Andrew R. WebsteriD· 1 shared Bart Peter LeroyiD· 1 shared Carlo RivoltaiD· 1 shared Carmen AyusoiD· 1 shared Dragana J. JosifovaiD· 1 shared Elfride De BaereiD· 1 shared Filip Van den BroeckiD· 1 shared

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2024-2024 · peak 1/yr

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1 shared paperGenetic & Genomic Medicine

Alfredo Dueñas ReyORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedJan 6, 2024

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

Alfredo Dueñas Rey, Marta Del Pozo‐Valero, Manon Bouckaert…·Frauke Coppieters

The paper identifies 11 likely pathogenic 5'UTR variants in IRD genes using a prioritization strategy and functional validation.

16 citations

humanwhole-genome sequencing

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