Author

Samuel R. Pierce

Children's Hospital of PhiladelphiaORCID 0000-0003-3215-4162Unclaimed 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:benchmarking· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ingo HelbigiD· 2 shared Sarah McKeown RuggieroiD· 2 shared A. GélotiD· 1 shared Alain SchmittiD· 1 shared Alexandra Noel Grace· 1 shared Alfonso RepresaiD· 1 shared Benjamin C Kennedy· 1 shared Benjamin L. ProsseriD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 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 MedicineBrainPeer-reviewedNov 28, 2023

Delineating clinical and developmental outcomes in STXBP1-related disorders

Julie Xian, Kim Marie Thalwitzer, Jillian L. McKee…·Ingo Helbig

This study outlines the longitudinal epilepsy and developmental trajectories in STXBP1-related disorders using clinical and standardized assessments, revealing subgroup differences and informing future therapeutic strategies.

47 citationstop 1%

humanelectronic health records

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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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