Author

Roberta L. Beauchamp

Massachusetts General Hospital

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

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1

Frequent Co-Authors

Serkan ErdiniD· 2 shared Abucar Mohamed· 1 shared Alison M. MaleiD· 1 shared Aloysius DomingoiD· 1 shared Amjad Ullah KhaniD· 1 shared Amy E. Crunk· 1 shared Ana Cristina Victorino KrepischiiD· 1 shared Andrée Delahaye‐DurieziD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 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

2 shared papersGenetic & Genomic Medicine

Serkan ErdinORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

Philip M. Boone, Serkan Erdin, Abucar Mohamed, Sadegheh Haghshenas, Kamli N. W. Faour, Emeline M. Kao, Jack M. Fu, Chiara Auwerx, Ricardo Harripaul, Bimal Jana, Danielle Springer, Grey F. Hallström, Celine E. de Esch, Erica Rose Denhoff, Lauren Holmes, , Ilaria Parenti

The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.

medRxiv · Feb 28, 2026 · PreprintGenetic & Genomic Medicine

TSC2 loss in neural progenitor cells suppresses translation of ASD/NDD-associated transcripts in an mTORC1- and MNK1/2-reversible fashion

Pauline Martin, Krzysztof J. Szkop, Francis Robert, Srirupa Bhattacharyya, Roberta L. Beauchamp, Jacob Brenner, Nicholas E. Redmond, Sidong Huang, Serkan Erdin, Ola Segnestam Larsson, Vijaya Ramesh

This study shows that TSC2 loss in neural progenitor cells suppresses translation of ASD/NDD-associated transcripts, which can be reversed by inhibiting mTORC1 or MNK1/2.

bioRxiv · Jun 4, 2024 · PreprintMolecular Biology