Author

Stacy G. Guzman

Children's Hospital of PhiladelphiaORCID 0000-0003-0713-0652Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Abiola Harrison· 1 shared Anabelle Tuttle· 1 shared Boris KereniD· 1 shared Chaya Nautiyal MuraliiD· 1 shared CHOP Birth Defects Biorepository· 1 shared Colin A. EllisiD· 1 shared Courtney Jensen· 1 shared Deborah J. WatsoniD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abiola Harrison

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 10, 2025

Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range

Stacy G. Guzman, Sarah McKeown Ruggiero, Shiva Ganesan…·Ingo Helbig

The paper identifies BSN variants as a cause of a new neurodevelopmental disorder with a broad phenotypic range, using clinical data and computational phenotyping.

DOI 10.1101/2025.02.10.25321755

humanstatistical model