Author

Sandrine Caburet

Centre National de la Recherche ScientifiqueORCID 0000-0002-7404-8213Unclaimed 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· 1 Organism:mouse· 1 Research Focus:protein design· 1 Research Focus:protein structure prediction· 1 Approach:statistical model· 1

Frequent Co-Authors

Abdelkader HeddariD· 1 shared Alberto M. PendásiD· 1 shared Anne‐Laure TodeschiniiD· 1 shared Bernard S. LópeziD· 1 shared Dirk G. de RooijiD· 1 shared Elena LlanoiD· 1 shared Elodie DardillaciD· 1 shared Fernando Sánchez-SáeziD· 1 shared

Activity by Year

2020-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetics

Abdelkader HeddarORCID

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2 papers

Recent·Most cited

A missense in HSF2BP causing Primary Ovarian Insufficiency affects meiotic recombination by its novel interactor C19ORF57/MIDAP

Natalia Felipe‐Medina, Sandrine Caburet, Fernando Sánchez-Sáez, Yazmine B. Condezo, Dirk G. de Rooij, Laura Gómez-H, Rodrigo García-Valiente, Anne‐Laure Todeschini, Paloma Duque, Manuel Sánchez‐Martín, Stavit Allon Shalev, Elena Llano, Reiner A. Veitia, Alberto M. Pendás

The paper identifies a missense variant in HSF2BP linked to POI, showing it impairs meiotic recombination by affecting its interaction with MIDAP and reducing recombinase activity.

eLife · Aug 26, 2020Peer-reviewedGenetics

A homozygous hypomorphic BRCA2 variant causes primary ovarian insufficiency without cancer or Fanconi anemia traits.

Sandrine Caburet, Abdelkader Heddar, Elodie Dardillac, Helene Creux, Marie Lambert, Sébastien Messiaen, Sophie Tourpin, Gabriel Livera, Bernard S. López, Micheline Misrahi

This study identifies a BRCA2 variant causing primary ovarian insufficiency without cancer or Fanconi anemia, showing residual HR function in patient cells.

Journal of Medical Genetics · Jun 1, 2020Peer-reviewedGenetics