Author

Sonia Arora Ballal

Boston Children's 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

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Emeline M. Kao· 2 shared Erica Rose DenhoffiD· 2 shared Haley McConkey· 2 shared Jennifer KerkhofiD· 2 shared Jessica RzasaiD· 2 shared Kamli N. W. FaouriD· 2 shared Philip M. BooneiD· 2 shared Abucar Mohamed· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Emeline M. Kao

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 28, 2026

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…·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.

DOI 10.64898/2026.02.23.26346364

humanexperimental assay

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintSep 27, 2023

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

Morad Ansari, Kamli N. W. Faour, Akiko Shimamura…·Philip M. Boone

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

1 citation

humanDNA methylation

𝕏 PostBluesky