Author

Christine Eng

Baylor College of Medicine

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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Assay:bulk RNA-seq· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Brendan LeeiD· 2 shared Gladys E. Zapata· 2 shared Jefferson C. Sinson· 2 shared Jill Anne RosenfeldiD· 2 shared Kristina Macakova· 2 shared Pengfei LiuiD· 2 shared Sen ZhaoiD· 2 shared Shenglan LiiD· 2 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Brendan LeeORCID

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2 papers

Recent·Most cited

The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics

Sen Zhao, Jefferson C. Sinson, Shenglan Li, Jill Anne Rosenfeld, Gladys E. Zapata, Kristina Macakova, Mezthly Pena, Rebecca L. Maywald, Kim C. Worley, Lindsay Catherine Burrage, Monika Weisz‐Hubshman, Shamika Ketkar, William James Craigen, Lisa Emrick, Undiagnosed Diseases Network, , Pengfei Liu

This study evaluates ultra-high-depth RNA-seq for Mendelian disorder diagnostics, showing improved detection of low-abundance transcripts and splicing variants, and introduces a resource to guide sequencing depth selection.

The American Journal of Human Genetics · Oct 10, 2025Peer-reviewedGenetic & Genomic Medicine

Clinical validation of RNA sequencing for Mendelian disorder diagnostics

Sen Zhao, Kristina Macakova, Jefferson C. Sinson, Hongzheng Dai, Jill Anne Rosenfeld, Gladys E. Zapata, Shenglan Li, Patricia A. Ward, Christiana Wang, Chunjing Qu, Becky Maywald, Undiagnosed Diseases Network, Brendan Lee, Christine Eng, Pengfei Liu

This study validates a clinical RNA-seq test for diagnosing Mendelian disorders using 150 samples, achieving over 99% sensitivity and specificity.

The American Journal of Human Genetics · Mar 4, 2025Peer-reviewedGenetic & Genomic Medicine