Author

Caroline Michot

Hôpital Necker-Enfants MaladesORCID 0000-0002-8749-5899Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Lyse RuaudiD· 2 shared Adèle FendleriD· 1 shared Agnès Guët· 1 shared Alexandre GuilhemiD· 1 shared Alicia BessoniD· 1 shared Angélique Bibimbou· 1 shared Anne‐Louise LeuteneggeriD· 1 shared Audrey PutouxiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Lyse RuaudORCID

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2 papers

Recent·Most cited

Loss of function variants in ADAMTS6: Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)

Júlia Huguet Herrero, Pauline Arnaud, Angélique Bibimbou, Deborah E. Seifert, Zakaria Mougin, Louise Benarroch, Caroline Michot, Yline Capri, Lyse Ruaud, Sophie Dupuis‐Girod, Alexandre Guilhem, Constance Beyer, Fanny Bajolle, Oliver Milleron, Guillaume Jondeau, , Carine Le Goff

The paper identifies loss-of-function variants in ADAMTS6 in patients with vascular and neurodevelopmental disorders, linking them to connective tissue defects and proposing a new syndrome called CHANS.

medRxiv · May 2, 2025 · PreprintGenetic & Genomic Medicine

Deficiency of U4atac snRNA secondarily results in ciliary defects

Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie Alice Dupont, Clara Benoit‐Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert‐Bellanger, Pierre Blanc, Thomas Rambaud, , Marion Delous

The paper identifies a mutation in RNU4ATAC causing ciliary defects in patients with TALS/RFMN/LWS and Joubert syndrome, linking minor splicing defects to ciliary dysfunction.

Proceedings of the National Academy of Sciences · Feb 21, 2023Peer-reviewedGenetic & Genomic Medicine