Author

Audrey M. Winkelsas

National Institutes of HealthORCID 0000-0001-8612-7632Unclaimed 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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Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Assay:long-read sequencing· 1

Frequent Co-Authors

Christopher GrunseichiD· 2 shared George G. Harmison· 2 shared Adam Comer· 1 shared Adnan Yousaf Manzur· 1 shared Aileen Reghan FoleyiD· 1 shared Alayne P. MeyeriD· 1 shared Andrew D. NguyeniD· 1 shared Aneesh G. PatankariD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christopher GrunseichORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 29, 2026

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide

Sarah Silverstein, Andrew D. Nguyen, Rotem Orbach…·Christopher Grunseich

This study identifies deep intronic IGHMBP2 variants causing SMARD1 and CMT2S, showing they activate a shared cryptic splice donor, enabling correction with a single antisense oligonucleotide in patient-derived motor neurons.

DOI 10.64898/2026.04.20.26351111

humanlong-read sequencing

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GeneticsHuman Genetics and Genomics AdvancesPeer-reviewedApr 8, 2025

Allele-specific silencing of a dominant SETX mutation in familial amyotrophic lateral sclerosis type 4

Audrey M. Winkelsas, Athena Marie Apfel, Brian Johnson…·Christopher Grunseich

The paper demonstrates that allele-specific siRNA can effectively silence a dominant SETX mutation in ALS4, restoring R-loop levels in patient cells.

1 citation

humanbulk RNA-seq

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