Author

Jonathan W. Pitsch

University of Colorado Anschutz

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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Genetics· 2

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:software / tool· 1 Approach:statistical model· 1

Frequent Co-Authors

Martin W. BreussiD· 2 shared Rose M. Doss· 2 shared Sara A. WirthiD· 2 shared Andrea Lynne GropmaniD· 1 shared Ava V. A. Warren· 1 shared Caroline DiasiD· 1 shared Jack Ustanik· 1 shared Josh MejiaiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetics

Martin W. BreussORCID

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2 papers

Recent·Most cited

CREPE (CREate Primers and Evaluate): a computational tool for large-scale primer design and specificity analysis

Jonathan W. Pitsch, Sara A. Wirth, Nicole T. Costantino, Josh Mejia, Rose M. Doss, Ava V. A. Warren, Jack Ustanik, Xiaoxu Yang, Martin W. Breuss

CREPE is a computational tool that designs and evaluates primers for large-scale PCR, achieving over 90% successful amplification for acceptable primers.

Genes · Sep 10, 2025Peer-reviewedGenetics

Exon-skipping and genetic compensation due to biallelic mutations in the neurodevelopmental disease gene LNPK

Rose M. Doss, Sara A. Wirth, Jonathan W. Pitsch, Caroline Dias, Andrea Lynne Gropman, Martin W. Breuss

This study identifies compound heterozygous splice site mutations in LNPK causing neurodevelopmental syndrome, showing exon-skipping and genetic compensation through NMD pathway inhibition.

bioRxiv · May 30, 2025 · PreprintGenetics