Author

Jennifer Ballaco

Rockefeller University

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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Genomics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Assay:ATAC-seq· 1 Assay:CUT&Tag· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Giulio FormentiiD· 3 shared Margarita GeletaiD· 3 shared Mark DiekhansiD· 3 shared Prajna HebbariD· 3 shared Adam FrankishiD· 2 shared Alawi A.A. Alsheikh-AliiD· 2 shared Andrea GuarracinoiD· 2 shared Andrew P. BlairiD· 2 shared

Activity by Year

2026-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenomics

Giulio FormentiORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

David Porubskỳ, DongAhn Yoo, Nidhi Koundinya, Erika L. Souche, Philip C. Dishuck, Nicolas Dierckxsens, William T. Harvey, Katherine M. Munson, Kendra Hoekzema, Daniel D. Chan, Tiffany Y. Leung, Marta S. Santos, Senne Meynants, Ann Swillen, Jeroen Breckpot, , Todd L. Hillaker

The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.

Nature Communications · Apr 18, 2026Peer-reviewedGenomics

The diploid reference genome of a human embryonic stem cell line

Ivana Pačar, Matteo Tommaso Ungaro, Ying Chen, Hamza Dallali, Jack A Medico, Prajna Hebbar, Mark Diekhans, Elena Di Tommaso, Margarita Geleta, Patricia P. Chan, Todd M. Lowe, Jennifer Ballaco, Nivesh Jain, Francine Ackerman, Michela Mochi, , Simona Giunta

The paper presents the first telomere-to-telomere diploid reference genome of the human embryonic stem cell line H9, revealing genomic features and ancestry.

bioRxiv · Mar 30, 2026 · PreprintGenomics

Pangenome discovery of missing autism variants

Yang Sui, Jiadong Lin, Michelle D. Noyes, Youngjun Kwon, Isaac Wong, Nidhi Koundinya, William T. Harvey, Mei Wu, Kendra Hoekzema, Katherine M. Munson, Gage H. Garcia, Jordan Knuth, Julie Wertz, Tianyun Wang, Kelsey M. Hennick, , Glenn Hickey

The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.

Nature Communications · Jan 23, 2026Peer-reviewedGenetic & Genomic Medicine