Author

Jannis Buecking

Boston Children's HospitalORCID 0009-0003-8784-1071Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:cell-cell communication· 1

Frequent Co-Authors

Azmal Syed Ali· 1 shared Baran E. GüleriD· 1 shared Benjamin FinanderiD· 1 shared Brian H. ChhoukiD· 1 shared Celine E. de Esch· 1 shared Christian P. Schaaf· 1 shared Christie N CambridgeiD· 1 shared Christopher A. WalshiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperNeuroscience

Azmal Syed Ali

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintSep 30, 2026

Pervasive Somatic Mutations in NF1 Drive Cell Type and Spatially Specific Clonal Selection in Neurofibromatosis

Daniel A. Snellings, Kow Essuman, Benjamin Finander…·Christopher A. Walsh

The paper identifies pervasive somatic NF1 mutations in oligodendrocyte precursors in NF-1 patients, showing clonal selection and spatial bias, and links CDKN2A loss to tumor progression.

DOI 10.64898/2026.09.29.755447

humanwhole-exome sequencing

𝕏 PostBluesky

NeurosciencebioRxivPreprintMay 5, 2026

Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromes.

Jannis Buecking, Baran E. Güler, Michael Eibl…·Magdalena Laugsch

This study identifies MAGEL2-driven defects in human corticogenesis shared between Prader-Willi and Schaaf-Yang syndromes using multi-omics profiling of induced neurons.

1 citation

humanbulk RNA-seq

𝕏 PostBluesky