Author

Korbinian Maria Riedhammer

Boston Children's HospitalORCID 0000-0002-7503-5801Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Developmental Biology· 1 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 2 Assay:DNA methylation· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Organism:Drosophila· 1

Frequent Co-Authors

Alicia M. H. CaseyiD· 1 shared Angela BahriD· 1 shared Anita M. RauchiD· 1 shared Annick Raas‐RothschildiD· 1 shared Béatrice Ardin· 1 shared Bertrand KnebelmanniD· 1 shared C Man· 1 shared Caroline Maria KolvenbachiD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 18 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

1 shared paperGenetics

Alicia M. H. CaseyORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 15, 2026

Mapping intronic mutational hotspots by in silico mutagenesis enables single antisense oligonucleotide correction of multiple variants

Hassan Saei, Béatrice Ardin, Nicolas Kaiser…·Guillaume Dorval

The paper identifies deep intronic mutational hotspots using in silico mutagenesis and demonstrates that a single antisense oligonucleotide can correct multiple variants causing X-linked Alport syndrome.

DOI 10.64898/2026.09.10.26362533

humanDNA methylation

𝕏 PostBluesky

Developmental BiologybioRxivPreprintAug 30, 2025

A kidney specific mouse model to study the effects of in vivo induction of Yamanaka factors

Katharina Lemberg, Gijs A. C. Franken, Korbinian Maria Riedhammer…·Friedhelm Hildebrandt

This study investigates the effects of in vivo induction of Yamanaka factors (OKS) in a kidney-specific mouse model to enhance tissue repair after acute kidney injury, finding that while feasible, it carries risks of oncogenic transformation.

DOI 10.1101/2025.08.30.672899

mouseexperimental assay

𝕏 PostBluesky

GeneticsMolecular PsychiatryPeer-reviewedApr 28, 2020

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun…·Tjitske Kleefstra

This study characterizes SETD1A haploinsufficiency in humans and Drosophila, identifying a novel neurodevelopmental syndrome with cognitive and developmental symptoms.

76 citationstop 3%

humanDrosophila

𝕏 PostBluesky