Author

Elisabeth Bosch

Friedrich-Alexander-Universität Erlangen-NürnbergORCID 0000-0002-4952-2016Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Ahna M. Rabani· 1 shared Alessandra RenieriiD· 1 shared Amelle ShillingtoniD· 1 shared Amy Dobson· 1 shared André ReisiD· 1 shared Andrea AccogliiD· 1 shared Anna Maria PintoiD· 1 shared Annalaura TorellaiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ahna M. Rabani

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1 paper

Recent·Most cited

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy D. Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Özlem Baysal, Dewi Hartwich, Laura Holthöfer, Bertrand Isidor, , Georgia Vasileiou

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

medRxiv · Mar 30, 2023 · PreprintGenetic & Genomic Medicine