Author

Deeksha Sarihyan Bali

Duke University Health SystemORCID 0000-0003-2550-8073Unclaimed 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 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Shruthi MohaniD· 2 shared Alexias SafiiD· 1 shared Amber WaddelliD· 1 shared Andrew S. AlleniD· 1 shared Apoorva K. IyengariD· 1 shared Catherine Weaver RehderiD· 1 shared Christina HungiD· 1 shared Emily GroopmaniD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetics

Shruthi MohanORCID

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2 papers

Recent·Most cited

GeneticsGenetics in Medicine OpenPeer-reviewedNov 20, 2025

Cell modeling and rescue of a novel non-coding genetic cause of Glycogen Storage Disease IX

Apoorva K. Iyengar, Xue Zou, Jian Dai…·Timothy E. Reddy

The paper identifies a non-coding variant causing GSD IX γ2, validates its splicing effects, and demonstrates reversal using antisense oligonucleotides.

DOI 10.1016/j.gimo.2025.103474

humanbulk RNA-seq

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Genetic & Genomic MedicineMolecular Genetics and MetabolismPeer-reviewedNov 1, 2024

Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework

Emily Groopman, Shruthi Mohan, Amber Waddell…·Jennifer Goldstein

The paper assesses the clinical validity of 56 genes associated with lysosomal diseases using the ClinGen framework, identifying key themes and challenges in their evaluation.

1 citation

humanwhole-exome sequencing

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