Author

Kory Johnson

National Human Genome Research Institute

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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Cancer Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:cancer & tumor microenvironment· 1 Assay:ChIP-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Assay:long-read sequencing· 1

Frequent Co-Authors

Yan Li· 2 shared Abdel Elkahloun· 1 shared Adam Comer· 1 shared Adnan Yousaf Manzur· 1 shared Aileen Reghan FoleyiD· 1 shared Alayne P. MeyeriD· 1 shared Andrew D. NguyeniD· 1 shared Aneesh G. PatankariD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Yan Li

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2 papers

Recent·Most cited

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide

Sarah Silverstein, Andrew D. Nguyen, Rotem Orbach, Sandra C. Donkervoort, Thomas A. Cassini, Mary E. Koziura, Véronique Bolduc, Audrey M. Winkelsas, Ester Masati, Shreya Nandi, George G. Harmison, BE Johnson, Kory Johnson, Sarah E. Kargbo-Hill, Jason J. Bussgang, , Christopher Grunseich

This study identifies deep intronic IGHMBP2 variants causing SMARD1 and CMT2S, showing they activate a shared cryptic splice donor, enabling correction with a single antisense oligonucleotide in patient-derived motor neurons.

medRxiv · Apr 29, 2026 · PreprintGenetic & Genomic Medicine

Phosphoproteomic dysregulation drives tumor proliferation in Cushing's disease

David T. Asuzu, Dhruval Bhatt, Dustin Mullaney, Debjani Mandal, Diana Nwokoye, Sheelu Varghese, Daniela Tortoza Lopez, Nikhil Ramavenkat, Kory Johnson, Abdel Elkahloun, Zied Abdullaev, Kenneth Aldape, Dragan Maric, Clarisse Quignon, N MALIK, , Prashant Chittiboina

This study identifies phosphoproteomic dysregulation as a driver of tumor proliferation in Cushing's disease and demonstrates reversibility using an FDA-approved PP2A agonist.

bioRxiv · Sep 28, 2025 · PreprintCancer Biology