Author

Cynthia Carpenter

Jackson Laboratory

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 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:mouse· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Kristina J. Palmer· 2 shared Stephen A. MurrayiD· 2 shared Aalekh S. MehtaiD· 1 shared Adam P GiessiD· 1 shared Alana Luzzio· 1 shared Ameleen Wong· 1 shared Amie Creighton· 1 shared Angela D. HambliniD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetics

Kristina J. Palmer

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2 papers

Recent·Most cited

Modeling patient variants of Cnot1 and Cdc42bpb results in distinct forms of congenital diaphragmatic hernia in mice

Eric L. Bogenschutz, Cynthia Carpenter, Ameleen Wong, Kristina J. Palmer, Aalekh S. Mehta, Yannick Ledermann, Caleb S. Heffner, Kathy J. Snow, Carol J. Bult, Y Shen, Patricia K. Donahoe, Samuel P. Rowbotham, Frances A. High, Wendy K. Chung, Stephen A. Murray

The paper validates two genes, Cnot1 and Cdc42bpb, as causes of congenital diaphragmatic hernia in mice using patient-specific variants and shows distinct hernia phenotypes.

bioRxiv · Feb 26, 2026 · PreprintGenetics

Mendelian gene identification through mouse embryo viability screening

Pilar Cacheiro, Carl Henrik Westerberg, Jesse Mager, Mary E. Dickinson, Lauryl M. J. Nutter, Violeta Muñoz‐Fuentes, Chih‐Wei Hsu, Ignatia B. Van den Veyver, Ann Marie Flenniken, Colin McKerlie, Stephen A. Murray, Lydia Teboul, Jason D. Heaney, K. C. Kent Lloyd, Louise Lanoue, , John Pullinger

The paper identifies novel Mendelian genes by analyzing mouse embryo lethality and linking them to human disease phenotypes and genetic variants.

Genome Medicine · Oct 13, 2022Peer-reviewedGenetic & Genomic Medicine