Author

Elizabeth A. Werren

The Jackson Laboratory for Genomic MedicineORCID 0000-0002-0151-2564Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genomics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Adam P. MatsoniD· 1 shared Ahmet Oguzhan OzeniD· 1 shared Ana KroloiD· 1 shared Anju ShuklaiD· 1 shared Anshika SrivastavaiD· 1 shared Ashleigh E. SchafferiD· 1 shared Brandon A. BergeriD· 1 shared Cameron King· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenomics

Adam P. MatsonORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

GenomicsAmerican Journal of Medical Genetics Part APeer-reviewedJan 28, 2025

A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome

Elizabeth A. Werren, Louisa Kalsner, Jessica M. Ewald…·Adam P. Matson

The paper identifies a novel de novo PAK2 variant in a patient with Knobloch syndrome type 2, supporting PAK2's role in the disorder and expanding its clinical features.

6 citations

humanwhole-genome sequencing

𝕏 PostBluesky

Molecular BiologybioRxivPreprintSep 6, 2022

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

Elizabeth A. Werren, Geneva R. LaForce, Anshika Srivastava…·Ashleigh E. Schaffer

This study investigates mRNA processing defects in THOC6 intellectual disability syndrome by analyzing human and mouse models, revealing mRNA mis-splicing and novel TREX tetramer functions.

DOI 10.1101/2022.09.06.506502

humanmouse

𝕏 PostBluesky