Author

Mark Ramos

Children's Hospital of PhiladelphiaORCID 0000-0002-5069-2397Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Assay:ChIP-seq· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Adam E. LockeiD· 1 shared Adam J. Mansfield· 1 shared Adolfo A. FerrandoiD· 1 shared Adrián I. CamposiD· 1 shared Alan R. ShuldineriD· 1 shared Alex Gonzalez· 1 shared Alexander E. LopeziD· 1 shared Alexander GorovitsiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam E. LockeORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genomic ascertainment of CHEK2-related cancer predisposition

Sun Young Kim, Jung Kim, Mark Ramos, Jeremy S. Haley, Diane T. Smelser, H. Shanker Rao, Uyenlinh L. Mirshahi, Katherine L. Nathanson, Barry I. Graubard, Hormuzd A. Katki, David J. Carey, Douglas R. Stewart, Aris Baras, Gonçalo R. Abecasis, Adolfo A. Ferrando, , Arden Moscati

This study quantifies cancer risk and penetrance in CHEK2 heterozygotes using genomic data from two large biobanks, finding increased risks for several cancers and younger age of onset.

JAMA Network Open · Dec 15, 2025Peer-reviewedGenetic & Genomic Medicine

The genetic spectrum of febrile infection-related epilepsy syndrome (FIRES) and refractory status epilepticus

Danielle deCampo, Julie Xian, Alexis R. Karlin, Katie Rose Sullivan, Sarah McKeown Ruggiero, Peter D. Galer, Mark Ramos, Nicholas Scott Abend, Alex Gonzalez, Ingo Helbig

This paper analyzes the clinical and genetic landscape of FIRES and RSE, finding 36% of RSE patients have genetic causes, while FIRES remains largely undiagnosed.

medRxiv · Feb 12, 2023 · PreprintGenetic & Genomic Medicine

Set4 coordinates the activity of histone deacetylases and regulates stress-responsive gene expression within subtelomeric regions in yeast

Yogita Jethmalani, Khoa Tran, Deepika Jaiswal, Meagan Jezek, Mark Ramos, Shandon Amos, Eric Joshua Garcia, Maraki Y. Negesse, Winny Sun, DoHwan Park, Erin M. Green

This study identifies Set4 as a regulator of subtelomeric gene expression and chromatin repression in yeast, showing its role in stress response and cell fitness under hypoxia.

bioRxiv · May 11, 2021 · PreprintGenetics