Author

Kaitlyn Szot

Children's Hospital of Philadelphia

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

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Cecelia EstevesiD· 1 shared Laura Kathleen ConliniD· 1 shared Maninder KauriD· 1 shared Ramakrishnan RajagopalaniD· 1 shared Shilpa N. KobreniD· 1 shared Tejas R. JammihaliD· 1 shared Undiagnosed Diseases Network· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Cecelia EstevesORCID

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1 paper

Recent·Most cited

Overcoming a diagnostic blindspot: Identifying balanced translocations in Mendelian rare disease cohorts

Tejas R. Jammihal, Kaitlyn Szot, Maninder Kaur, Cecelia Esteves, Shilpa N. Kobren, Undiagnosed Diseases Network, Laura Kathleen Conlin, Ramakrishnan Rajagopalan

This paper develops a specific pipeline to detect balanced reciprocal translocations in genomic data and applies it across multiple cohorts to assess their prevalence and diagnostic impact.

medRxiv · Oct 5, 2026 · PreprintGenetic & Genomic Medicine