Author

Bethânia FR Ribeiro

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Genetics· 1

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

A. GélotiD· 1 shared Alain SchmittiD· 1 shared Alexandra Noel Grace· 1 shared Alfonso RepresaiD· 1 shared Benjamin C Kennedy· 1 shared Boris KereniD· 1 shared Caroline NavaiD· 1 shared Caroline RambaudiD· 1 shared

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2022-2022 · peak 1/yr

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1 shared paperGenetics

A. GélotORCID

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1 paper

Recent·Most cited

GeneticsThe American Journal of Human GeneticsPeer-reviewedNov 21, 2022

A recurrent de novo splice site variant involving DNM1 alternative exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

Shridhar Parthasarathy, Sarah McKeown Ruggiero, A. Gélot…·Vishnu Anand Cuddapah

The paper identifies a recurrent de novo splice site variant in DNM1 exon 10a causing severe DEE through a dominant-negative mechanism, highlighting the importance of considering alternative isoforms in disease causation.

35 citationstop 4%

humanwhole-genome sequencing

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