Author

Roberto Keller

ORCID 0000-0002-6873-9827Unclaimed ORCID profile · follow to get notified of new preprints

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Roberto Keller1 paper

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:Drosophila· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alfredo BruscoiD· 2 shared Amanda GerardiD· 1 shared Annalisa VetroiD· 1 shared Bianca E. RusselliD· 1 shared Boris KereniD· 1 shared Brett TrostiD· 1 shared Brooke HulliD· 1 shared Carole Shum· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alfredo BruscoORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedDec 19, 2024

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus

Marcello Scala, Clarrisa A. Bradley, Jennifer Howe…·Stephen W. Scherer

The paper identifies DDX53 genetic variants in individuals with ASD, showing a link between DDX53 and ASD, and highlights implications for genetic testing and mouse modeling.

14 citations

humanstatistical model

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GeneticsCell ReportsPeer-reviewedMar 1, 2022

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews…·Shinya Yamamoto

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.

62 citationstop 2%

Drosophilaexperimental assay

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