Author

Nuria C. Bramswig

University Hospital MünsterORCID 0000-0002-3367-586XUnclaimed 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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Approach:benchmark study· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alain VerloèsiD· 1 shared Allan BayatiD· 1 shared Almuth CaliebeiD· 1 shared Annette SchenckiD· 1 shared Bernt PoppiD· 1 shared Charlotte W. OckeloeniD· 1 shared Christiane ZweieriD· 1 shared Emanuela ScaranoiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Alain VerloèsORCID

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Author profile →

2 papers

Recent·Most cited

SysNDD: A Systematic Database for Neurodevelopmental Disorders

Bernt Popp, Simon Frueh, Melek Firat Altay, Hilde Van Esch, Almuth Caliebe, Nuria C. Bramswig, Fabian Hummel, Sopio Gverdtsiteli, Tjitske Kleefstra, Annette Schenck, Zeynep Tümer, Alain Verloès, Christiane Zweier

SysNDD is a curated database of gene-disease associations for neurodevelopmental disorders, providing standardized evidence and annotations for 4,275 entities from 4,932 publications.

bioRxiv · Oct 1, 2026 · PreprintGenetics

Life beyond childhood: insight into the lived experience of 91 adults with KBG syndrome through an online patient/caregiver reported co-produced questionnaire

Karen Jaqueline Low, Moira Walker, Georgia Treneman‐Evans, Nuria C. Bramswig, Morten Krogh Herlin, Gaëtan Lesca, Emanuela Scarano, Charlotte W. Ockeloen, Allan Bayat

This study explores the lived experiences of 91 adults with KBG syndrome, revealing high rates of comorbidities and challenges in adulthood.

Brain and Behavior · May 1, 2025Peer-reviewedGenetic & Genomic Medicine