Author

Rhonda E. Schnur

Cooper Medical School of Rowan UniversityORCID 0000-0002-7779-1512Unclaimed ORCID profile · follow to get notified of new preprints

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Signature Assays, Organisms & Methods

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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

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Akemi J. Tanaka

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1 paper

Recent·Most cited

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