Author

Mark St John

Cleveland Clinic

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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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:electronic health records· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Alina IvaniukiD· 2 shared Dennis LaliD· 2 shared Alex MilinovichiD· 1 shared Christian M. BoßelmanniD· 1 shared Eduardo Pérez‐PalmaiD· 1 shared Elia Pestana‐KnightiD· 1 shared Fábio Augusto NascimentoiD· 1 shared Gokul Krishnaswamy· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alina IvaniukORCID

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2 papers

Recent·Most cited

Harnessing Mondo and the ILAE Classification for Curation and Analysis of 71,942 epilepsy patient variants

Alina Ivaniuk, Tobias Brünger, Eduardo Pérez‐Palma, Junhui Xiao, Mark St John, Fábio Augusto Nascimento, Guo‐Qiang Zhang, Samden D. Lhatoo, Dennis Lal

The paper curates and analyzes 71,942 epilepsy-related variants from ClinVar using Mondo and ILAE classifications to identify age-specific genetic contributors and shared pathways.

medRxiv · Jan 7, 2025 · PreprintGenetic & Genomic Medicine

Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder

Alina Ivaniuk, Christian M. Boßelmann, Xiaoming Zhang, Mark St John, Sara C. Taylor, Gokul Krishnaswamy, Alex Milinovich, Peter F. Aziz, Elia Pestana‐Knight, Dennis Lal

The paper uses natural language processing and phenome-wide analysis to identify tachycardia as a significant comorbidity in CDKL5 deficiency disorder.

medRxiv · Jun 24, 2023 · PreprintGenetic & Genomic Medicine