Author

Sibylle Poschmann

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

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Andreas RumpiD· 1 shared Bernt PoppiD· 1 shared Elisabeth GrafiD· 1 shared Ina SorgeiD· 1 shared Janina Gburek‐AugustatiD· 1 shared Johannes R. LemkeiD· 1 shared Julia HentscheliD· 1 shared Matias WagneriD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andreas RumpORCID

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1 paper

Recent·Most cited

A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2

Bernt Popp, Melanie Brügger, Sibylle Poschmann, Tobias Bartolomaeus, Maximilian Radtke, Julia Hentschel, Nataliya Di Donato, Andreas Rump, Janina Gburek‐Augustat, Elisabeth Graf, Matias Wagner, Ina Sorge, Johannes R. Lemke, Thomas Meitinger, Rami Abou Jamra, , Theresa Brunet

The paper identifies a novel syndrome caused by the gain-of-function variant p.Glu1099Lys in NSD2, leading to distinct clinical features compared to loss-of-function variants.

Clinical Genetics · Oct 3, 2022Peer-reviewedGenetic & Genomic Medicine