Author

Susan M. Freier

Ionis Pharmaceuticals (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Molecular Biology· 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 Research Focus:cell-cell communication· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Assay:long-read sequencing· 1

Frequent Co-Authors

Andrew S. BelmontiD· 1 shared Andrew T. Watt· 1 shared Ashley Dung· 1 shared Auinash KalsotraiD· 1 shared Christopher J. Torio· 1 shared Dan DominissiniiD· 1 shared Erik Russell NelsoniD· 1 shared Harikrishna Thulaseedharan· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperMolecular Biology

Andrew S. BelmontORCID

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2 papers

Recent·Most cited

ASXL3 truncating patient variants mediate transcriptional gain-of-function and are antisense oligonucleotide-responsive

Yuji Nakamura, Toan Nguyen, Nofar Mor, Dan Dominissini, Isaac Tang, Christopher J. Torio, Harikrishna Thulaseedharan, Rachel Yibei Zhou, Wenshu Zhang, Konstantina Skourti-Stathaki, Julie Douville, Laurence Mignon, Ashley Dung, Susan M. Freier, Andrew T. Watt, , Joseph G. Gleeson

The paper shows ASXL3 truncating variants cause disease via gain-of-function, not loss-of-function, and demonstrates antisense oligonucleotides can reverse the transcriptional effects.

medRxiv · Jul 22, 2026 · PreprintGenetic & Genomic Medicine

Chromatin-associated lncRNA-splicing factor condensates regulate hypoxia responsive RNA processing of genes pre-positioned near nuclear speckles

You Jin Song, Min Kyung Shinn, Sushant Bangru, Yu Wang, Qinyu Sun, Qinyu Hao, Pankaj Chaturvedi, Susan M. Freier, Pablo Pérez‐Piñera, Erik Russell Nelson, Andrew S. Belmont, Mitchell Guttman, Supriya G. Prasanth, Auinash Kalsotra, Rohit V. Pappu, Kannanganattu V. Prasanth

The paper shows that MALAT1 long noncoding RNA forms condensates with splicing factors to regulate hypoxia-induced alternative splicing near nuclear speckles.

Molecular Cell · Mar 1, 2026Peer-reviewedMolecular Biology