Author

Jacob Schmidt

The University of Texas Health Science Center at Houston

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 Assay:whole-genome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:cell signaling & trafficking· 1 Approach:comparative / phylogenetic analysis· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

Iman Egab· 3 shared Sujatha JagannathaniD· 3 shared Zeynep Coban‐AkdemiriD· 3 shared Alanna MorrisoniD· 2 shared Chad A. ShawiD· 2 shared Eric BoerwinkleiD· 2 shared James R. LupskiiD· 2 shared Jennifer Ellen PoseyiD· 2 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenomics

Iman Egab

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating Variants

Iman Egab, Jacob Schmidt, Michael A. Cortázar, Jiaoyang Xu, Peter Orchard, Moez Dawood, Tugce Bozkurt‐Yozgatli, Jasmine Koh, Luisa Mestroni, M Taylor, S. Stephen Yi, Daniel G. Calame, Jennifer Ellen Posey, Richard A. Gibbs, Eric Boerwinkle, , Zeynep Coban‐Akdemir

The paper develops a model to predict NMD outcomes for protein-truncating variants using RNA-seq data, achieving ~78% ROC-AUC and identifying non-canonical determinants.

bioRxiv · Oct 9, 2026 · PreprintGenomics

Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay

Michael A. Cortázar, Jacob Schmidt, Iman Egab, Zeynep Coban‐Akdemir, Sujatha Jagannathan

The paper quantitatively analyzes NMD activity for various PTCs in the LMNA gene, revealing new positional and sequence context dependencies beyond existing binary rules.

bioRxiv · Dec 23, 2025 · PreprintGenomics

Phase Separation Contributes to Pathogenicity for Nonsense Mediated Decay-Escaping Variant Alleles

Jiaoyang Xu, Jacob Schmidt, Amy Campbell, Tugce Bozkurt‐Yozgatli, Iman Egab, Luisa Mestroni, Matthew Taylor, Jennifer Ellen Posey, Richard A. Gibbs, Eric Boerwinkle, Paul De Vries, Alanna Morrison, S. Stephen Yi, Chad A. Shaw, Claudia M. B. Carvalho, , Zeynep Coban‐Akdemir

This study identifies NMD-escape variants as a distinct class of disease-causing mutations, showing that altered C-terminal regions drive pathogenicity through phase separation.

medRxiv · Dec 2, 2025 · PreprintGenetic & Genomic Medicine