Author

Stephanie Htun

University of California, San Francisco

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:yeast· 1 Organism:zebrafish· 1

Frequent Co-Authors

Ambro van HoofiD· 1 shared Anita H. CorbettiD· 1 shared Anne Michele SlavotinekiD· 1 shared Charlotte A. HaaxmaiD· 1 shared Daniah T. BelefordiD· 1 shared Dina Schneidman‐DuhovnyiD· 1 shared Doriana MisceoiD· 1 shared Eirik FrengeniD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Ambro van HoofORCID

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1 paper

Recent·Most cited

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