Author

Bertrand Knebelmann

Hôpital Necker-Enfants MaladesORCID 0000-0002-8115-7303Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Pathology· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Assay:bulk RNA-seq· 1 Research Focus:cancer & tumor microenvironment· 1 Research Focus:cell type annotation· 1 Research Focus:chromatin & epigenetic regulation· 1

Frequent Co-Authors

Agathe KahniD· 1 shared Alain CouvineauiD· 1 shared Albane A. BizetiD· 1 shared Alexandre BenmerahiD· 1 shared Alexia Mahuzier· 1 shared Amandine ViauiD· 1 shared Anaïs ChassaciD· 1 shared Andreas W. SaileriD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

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1 shared paperPathology

Agathe KahnORCID

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3 papers

Recent·Most cited

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

Hassan Saei, Béatrice Ardin, Nicolas Kaiser, Mouad Ouahmane, Olivier Gribouval, Vincent Morinière, Manon Mautret‐Godefroy, Florian J. Wopperer, Korbinian Maria Riedhammer, Daniel Philip Gale, Omid Sadeghi‐Alavijeh, Claire Goursaud, Olivier Grunewald, Chloe Prosper, Louis Lebreton, , 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.

medRxiv · Sep 15, 2026 · PreprintGenetic & Genomic Medicine

Loss of HNF1b drives pancreatic Intraductal Papillary Mucinous Neoplasms (IPMN) initiation

Diane Lorenzo, Lina Aguilera Munoz, Louis MARSTRAND-DAUCE, Anaïs Chassac, Pascal Nicole, Lingkang Meng, Laurence Heidet, Bertrand Knebelmann, Camille Pignolet, Sabrina Doblas, Alain Couvineau, Iréne Esposito, Vinciane Rebours, Rémy Nicolle, Jerome F. Cros, , Cécile Haumaître

This study shows that loss of HNF1B contributes to IPMN initiation and identifies its role as a tumor suppressor in pancreatic ductal cells.

bioRxiv · Jun 12, 2025 · PreprintPathology

The ANKS3/BICC1 protein complex is a master post-transcriptional regulator of NPHP1 ciliopathy gene transcripts

Alexia Mahuzier, Gweltas Odye, Valentina Grampa, Albane A. Bizet, Amandine Viau, Rebecca Ryan, Manon Mehraz, Thierry Blisnick, Euan Clark, Charline Henry, Rémi Piedagnel, Flora Silbermann, Gaëlle Hayot, Line De grande, Agathe Kahn, , Sophie Saunier

The paper identifies ANKS3/BICC1 as a post-transcriptional regulator of NPHP1 transcripts, linking it to ciliopathy phenotypes through transcript decay and ciliary dysfunction.

bioRxiv · Apr 18, 2024 · PreprintPathology