Author

Cecilie Fremstad Rustad

Oslo University HospitalORCID 0000-0001-7903-9087Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Frequent Co-Authors

Akemi J. Tanaka· 1 shared Alexandre ReymondiD· 1 shared Alfredo BruscoiD· 1 shared Anna HurstiD· 1 shared Anna Mikhaleva· 1 shared Binnaz YalciniD· 1 shared Boris KereniD· 1 shared Caroline NavaiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetics

Akemi J. Tanaka

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

GeneticsbioRxivPreprintJul 17, 2019

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…·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.

DOI 10.1101/693937

𝕏 PostBluesky