Author

Seth A. Stafki

University of MinnesotaORCID 0009-0006-7922-3910Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Assay:DNA methylation· 1 Organism:Drosophila· 1 Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Audrey L. DaughertyiD· 2 shared Carsten G. BönnemanniD· 2 shared Peter B. KangiD· 2 shared Sandra C. DonkervoortiD· 2 shared Aileen Reghan FoleyiD· 1 shared Ana TöpfiD· 1 shared Andrés NascimentoiD· 1 shared Anna ŁusakowskaiD· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Audrey L. DaughertyORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedDec 9, 2024

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

Ben Weisburd, Rakshya Sharma, Villem Pata…·Anne O’Donnell‐Luria

The paper develops and validates SMA Finder, a tool to diagnose spinal muscular atrophy in genome, exome, and panel sequencing data, identifying known and novel cases with high accuracy.

7 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Developmental BiologybioRxivPreprintMay 6, 2024

Effects of HMGCR deficiency on skeletal muscle development

Mekala Gunasekaran, Hannah R. Littel, Natalya M. Wells…·Peter B. Kang

This study investigates the effects of HMGCR deficiency on skeletal muscle development through genetic knockdown in mice and Drosophila, revealing shared mechanisms in three HMGCR-related muscle diseases.

2 citations

mouseDrosophila

𝕏 PostBluesky