Author

Iosifina Fotiadou

Mount Sinai Hospital

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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Research Focus:variant effect prediction· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Organism:yeast· 1

Frequent Co-Authors

Frederick P. RothiD· 2 shared Jochen WeileiD· 2 shared Julia KitaygorodskyiD· 2 shared Marta Verby· 2 shared Song SuniD· 2 shared Atina G. CotéiD· 1 shared Jasper RineiD· 1 shared Marc VidaliD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetics

Frederick P. RothORCID

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2 papers

Recent·Most cited

A systematic genotype-phenotype map for missense variants in the human intellectual disability-associated gene GDI1

Rachel A. Silverstein, Song Sun, Marta Verby, Jochen Weile, Yingzhou Wu, Marinella Gebbia, Iosifina Fotiadou, Julia Kitaygorodsky, Frederick P. Roth

This study creates a variant effect map for GDI1 missense variants using functional assays and machine learning to distinguish pathogenic from benign variants.

bioRxiv · Oct 6, 2021 · PreprintGenetics

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase

Song Sun, Jochen Weile, Marta Verby, Yingzhou Wu, Yang Wang, Atina G. Coté, Iosifina Fotiadou, Julia Kitaygorodsky, Marc Vidal, Jasper Rine, Pavel Ješina, Viktor Kožich, Frederick P. Roth

The paper creates a proactive map of CBS gene variant function and vitamin B6 response using yeast assays, predicting disease severity and therapy effectiveness.

Genome Medicine · Jan 30, 2020Peer-reviewedGenetics