Author

Pamela Pojomovsky McDonnell

Children's Hospital of PhiladelphiaORCID 0000-0003-3474-6428Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ingo HelbigiD· 2 shared Laina G. LuskiD· 2 shared A. GélotiD· 1 shared Alain SchmittiD· 1 shared Alexandra Noel Grace· 1 shared Alfonso RepresaiD· 1 shared Alfredo BruscoiD· 1 shared Benjamin C Kennedy· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ingo HelbigORCID

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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

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

𝕏 PostBluesky