Author

Helen Fryssira

National and Kapodistrian University of AthensORCID 0000-0002-8016-2004Unclaimed 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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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Organism:zebrafish· 1

Frequent Co-Authors

Andrea AccogliiD· 1 shared Andrew T. Powell· 1 shared Boris KereniD· 1 shared Candace MussiD· 1 shared Christalena SofocleousiD· 1 shared Delphine HéroniD· 1 shared Eirini TsoutsouiD· 1 shared Erica E. DavisiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrea AccogliORCID

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1 paper

Recent·Most cited

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

Kimberly A. Chapman, Farid Ullah, Zachary A Yahiku, Sheraz Jamal Khan, Sri Varsha Kodiparthi, Georgios Kellaris, Hazel G. White, Andrew T. Powell, Sandrina P. Correia, Tommy Stödberg, Christalena Sofocleous, Nikolaos M. Marinakis, Helen Fryssira, Eirini Tsoutsou, Jan Traeger-Synodinos, , Martha R. C. Bhattacharya

The paper identifies pathogenic TMEM184B variants in six pediatric cases and shows they disrupt metabolic signaling and neural development through functional studies in zebrafish and human cells.

The American Journal of Human Genetics · Aug 29, 2025Peer-reviewedGenetic & Genomic Medicine