Author

Doriana Misceo

Oslo University HospitalORCID 0000-0002-6594-5801Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Organism:yeast· 2 Organism:zebrafish· 2 Assay:ATAC-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:proteomics· 1

Frequent Co-Authors

Eirik FrengeniD· 2 shared Aliza Imam· 1 shared Ambro van HoofiD· 1 shared Anita H. CorbettiD· 1 shared Anna Kristina BjerreiD· 1 shared Annapurna Sudarsanam· 1 shared Anne Michele SlavotinekiD· 1 shared Cassidy PetreeiD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Eirik FrengenORCID

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2 papers

Recent·Most cited

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder

James Lambton, Shotaro Asano, Yuxiang Huang, Fumi Suomi, Tomoya Eguchi, Cassidy Petree, Kevin Huang, Magali Prigent, Aliza Imam, Thomas J. McCorvie, Daniel Warren, Emma Hobson, Helen McCullagh, Doriana Misceo, Anna Kristina Bjerre, , Robert William Taylor

The paper identifies bi-allelic ATG12 variants causing a neurodevelopmental disorder by impairing autophagy, with clinical and functional evidence from patient cells, yeast, and zebrafish models.

The American Journal of Human Genetics · Mar 26, 2026Peer-reviewedGenetic & Genomic Medicine

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Anne Michele Slavotinek, Doriana Misceo, Stephanie Htun, Linda Mathisen, Eirik Frengen, Michelle Foreman, Jennifer E. Hurtig, Liz Enyenihi, Maria C. Sterrett, Sara W. Leung, Dina Schneidman‐Duhovny, Juvianee I. Estrada‐Veras, Jacque L. Duncan, Charlotte A. Haaxma, Erik‐Jan Kamsteeg, , Anita H. Corbett

The paper reports three patients with biallelic EXOSC5 variants causing developmental delays, short stature, and cerebellar hypoplasia, and shows functional defects in RNA exosome activity.

Human Molecular Genetics · Jun 1, 2020Peer-reviewedGenetics