Author

Serena Noss

Pennsylvania State UniversityORCID 0009-0003-6486-035XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant effect prediction· 2 Assay:ATAC-seq· 1 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Corrine SmoleniD· 2 shared David J. AmoriD· 2 shared Deepro BanerjeeiD· 2 shared Jiawan SuniD· 2 shared Kate PopeiD· 2 shared Paul J. LockhartiD· 2 shared Santhosh GirirajaniD· 2 shared Alessandra RenieriiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Corrine SmolenORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Jiawan Sun, Serena Noss, Deepro Banerjee, Matthew T. Oetjens, Hermela Shimelis, Cora M. Taylor, Vijay Kumar Pounraja, Hyebin Song, Laura Rohan, Emily Huber, Laïla El Khattabi, , Santhosh Girirajan

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

Cell · Oct 7, 2025Peer-reviewedGenetic & Genomic Medicine

An integrated framework for functional dissection of variable expressivity in genetic disorders

Jiawan Sun, Serena Noss, Deepro Banerjee, Venkata Hemanjani Bhavana, Corrine Smolen, Maitreya Das, Belinda M. Giardine, Anisha Prabhu, David J. Amor, Kate Pope, Paul J. Lockhart, Santhosh Girirajan

The paper develops a framework to study variable expressivity in genetic disorders using 16p12.1 deletion models, showing how genetic background and secondary variants influence gene expression and phenotypes.

medRxiv · Jul 22, 2025 · PreprintGenetic & Genomic Medicine