Author

Cathérine Boileau

Hôpital Bichat-Claude-BernardORCID 0000-0002-0371-7539Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Dianna M. MilewicziD· 2 shared Guillaume JondeauiD· 2 shared Louise BenarrochiD· 2 shared Alexander SmithiD· 1 shared Alexandre GuilhemiD· 1 shared Anand K. Saggar· 1 shared Angélique Bibimbou· 1 shared Anne H. Child· 1 shared

Activity by Year

2017-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Dianna M. MilewiczORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 2, 2025

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…·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.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintJul 14, 2017

A mutation in the LMOD1 actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections

Y.B.A. Wan, Michael A. Simpson, José Antonio Aragon-Martin…·Anne H. Child

The paper identifies a mutation in LMOD1 associated with thoracic aortic aneurysms and dissections in a British family and validates its pathogenicity using zebrafish models.

5 citations

zebrafishwhole-exome sequencing

𝕏 PostBluesky