Author

Michael Alber

University Children's Hospital TübingenORCID 0009-0000-0115-9601Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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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

Heidi Loeffler· 2 shared Holger LercheiD· 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

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2 shared papersGenetic & Genomic Medicine

Heidi Loeffler

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 28, 2026

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

Joohyun Park, Zakaria Eddafir, Josua Kegele…·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.

DOI 10.64898/2026.10.26.26365902

humanwhole-genome sequencing

𝕏 PostBluesky

NeuroscienceNeurobiology of DiseasePeer-reviewedSep 24, 2025

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

Filip Rosa, Stephan Theiss, Susanne Krepp…·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.

5 citations

humanelectronic health records

𝕏 PostBluesky