Author

Øystein L. Holla

Telemark HospitalORCID 0000-0002-7697-857XUnclaimed 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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Organism:human· 2 Approach:experimental assay· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Akemi J. Tanaka· 1 shared Alexandra AfenjariD· 1 shared Alexandre ReymondiD· 1 shared Alfredo BruscoiD· 1 shared Anna HurstiD· 1 shared Anna Mikhaleva· 1 shared Annelise Yoo Mah-SomiD· 1 shared Benjamin C. CreekmoreiD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetics

Akemi J. Tanaka

Mutual co-authors in cluster

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2 papers

Recent·Most cited

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

Annelise Yoo Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns, Steven A. Skinner, Øystein L. Holla, Marie Falkenberg Smeland, Marc Planes, Kévin Uguen, Sylvia Redon, Tatjana Bierhals, Tasja Scholz, Jonas Denecke, , Marwan S. Shinawi

The paper identifies novel VCP variants causing a childhood-onset neurodevelopmental disorder through exome sequencing and functional analysis.

medRxiv · Jun 19, 2023 · PreprintGenetic & Genomic Medicine

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

Norine Voisin, Rhonda E. Schnur, Sofia Douzgou, Susan M. Hiatt, Cecilie Fremstad Rustad, Natasha J. Brown, Dawn Earl, Boris Keren, Olga A. Levchenko, Sinje Geuer, David J. Amor, Alfredo Brusco, Elizabeth Martina Bebin, Gerarda Cappuccio, Joel Charrow, , Alexandre Reymond

The paper identifies degron variants in AFF3 causing a multi-system disorder with specific clinical features and demonstrates phenotypic overlap with AFF4-related syndromes.

bioRxiv · Jul 17, 2019 · PreprintGenetics