Author

Electra Tapanari

European Bioinformatics InstituteORCID 0000-0002-9329-0996Unclaimed ORCID profile · follow to get notified of new preprints

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Genomics· 1

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Adam FrankishiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Anne Fabienne LepineiD· 1 shared Anthony S. RogersiD· 1 shared Barbara Uszczyńska-RatajczakiD· 1 shared Berge Arakel MinassianiD· 1 shared Berten CeulemansiD· 1 shared Caroline NavaiD· 1 shared

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2019-2019 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Adam FrankishORCID

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1 paper

Recent·Most cited

GenomicsbioRxivPreprintMay 30, 2019

Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

Charles A. Steward, Jolien Roovers, Marie‐Marthe Suner…·Adam Frankish

The paper updates gene annotations for 191 epilepsy genes, reclassifying variants and identifying new de novo SCN1A variants in Dravet syndrome patients.

DOI 10.1101/648576

humanbulk RNA-seq

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