Author

Verdiana Pullano

University of TurinORCID 0000-0002-0409-9832Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alfredo BruscoiD· 2 shared Alexandre ReymondiD· 1 shared Amanda G. NoyesiD· 1 shared Andrea BartuliiD· 1 shared Angela E. ScheuerleiD· 1 shared Anita M. RauchiD· 1 shared Anna HurstiD· 1 shared Ashley D. CannoniD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 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

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintSep 29, 2022

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano…·Gregory M. Cooper

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

DOI 10.1101/2022.09.29.22279724

humanstatistical model

𝕏 PostBluesky