Author

Heidi Loeffler

Hertie Institute for Clinical Brain Research

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

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Assay:electronic health records· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Holger LercheiD· 2 shared Michael AlberiD· 2 shared Sarah WeckhuyseniD· 2 shared Amelie T. van der VeniD· 1 shared An‐Sofie SchoonjansiD· 1 shared Andrea Rueegger· 1 shared Anna Esteve‐CodinaiD· 1 shared Anna JanseniD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 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 papersGenetic & Genomic Medicine

Holger LercheORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Long-read genome sequencing resolves complex structural variants in exome-negative developmental and epileptic encephalopathy

Joohyun Park, Zakaria Eddafir, Josua Kegele, Davide Mei, Noor Smal, Christina Vossler-Wolf, Kornelia Ellwanger, Charissa Millevert, Merel Swinnen, Robert J. Lauerer, Heidi Loeffler, Thomas Ott, German M. Demidov, Michael Alber, Francesca Bisulli, , Holger Lerche

This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.

medRxiv · Oct 28, 2026 · PreprintGenetic & Genomic Medicine

Electrophysiological signatures of a developmental delay in a stem cell model of KCNQ2 developmental and epileptic encephalopathy

Filip Rosa, Stephan Theiss, Susanne Krepp, Heidi Loeffler, Dulini C. Mendis, Stefanie Klingenstein, Stefan Liebau, Sarah Weckhuysen, Michael Alber, Steven Petrou, Holger Lerche, Snezana Maljevic, Thomas V. Wuttke

This study investigates the developmental impact of KCNQ2 loss-of-function variants in patient iPSC-derived neurons, showing reduced M-currents and disrupted oscillatory activity linked to developmental delay and seizures.

Neurobiology of Disease · Sep 24, 2025Peer-reviewedNeuroscience