Author

Christina Austin-Tse

Broad Institute

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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Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Stephanie P. DiTroiaiD· 2 shared A.C. Cullier· 1 shared Adélaïde Brosseau-Beauvir· 1 shared Agnès Guichet· 1 shared Alice GoldenbergiD· 1 shared Amandine SantiniiD· 1 shared Amy Ginsburg· 1 shared Andrea J. CoheniD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Stephanie P. DiTroiaORCID

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Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMar 30, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Elsa Leitão, Amandine Santini, Benjamin Cogné…·Johanna Herwig

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

8 citationstop 1%

humanbulk RNA-seq

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GeneticsGenetics in MedicinePeer-reviewedJun 26, 2024

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

Jessica X. Chong, Seth Berger, Samantha M. Baxter…·Tanner D. Jensen

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

16 citationstop 5%

whole-exome sequencingvariant calling

𝕏 PostBluesky