Author

Kevin M. Rostasy

Witten/Herdecke UniversityORCID 0000-0002-2180-5321Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Antonio VitobelloiD· 2 shared Sophie NambotiD· 2 shared Abdolmajid Omrani· 1 shared Abdullah AlamriiD· 1 shared Alberto Fernández‐JaéniD· 1 shared Alexandra AfenjariD· 1 shared Amal Mohammed AlhashemiD· 1 shared Amy E. Crunk· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 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

2 shared papersGenetics

Antonio VitobelloORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

GeneticsbioRxivPreprintJan 19, 2026

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

Hendrikus J. van Heesbeen, Nazim Rabouhi, Aurélie Gouronc…·Philippe M. Campeau

This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.

DOI 10.64898/2026.01.15.698931

humanexperimental assay

𝕏 PostBluesky

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJul 12, 2022

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

Erik Rosenhahn, Thomas James O’Brien, Maha Saad Zaki…·Konrad Platzer

17 citations

humanwhole-exome sequencing

𝕏 PostBluesky