Author

Ivan J. Dmochowski

University of PennsylvaniaORCID 0000-0001-7162-1347Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Adrian SantanaiD· 1 shared Camilla Berera· 1 shared Cesar AlvesiD· 1 shared Chaya Nautiyal MuraliiD· 1 shared Jesus A Tintos-Hernández· 1 shared Joanna J. PhillipsiD· 1 shared Joseph T.C. ShiehiD· 1 shared Joshua A. Bulos· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adrian SantanaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 30, 2023

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

Joseph T.C. Shieh, Jesus A Tintos-Hernández, Chaya Nautiyal Murali…·Xilma Rosa Ortiz-Gonzalez

This study identifies heterozygous FTH1 variants causing a novel pediatric neuroferritinopathy with neuroimaging and neuropathological features, and suggests antisense oligonucleotide therapy.

1 citation

humanbulk RNA-seq

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