Author

Sophie Tourpin

Commissariat à l'Énergie Atomique et aux Énergies Alternatives

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Abdelkader HeddariD· 1 shared Bernard S. LópeziD· 1 shared Elodie DardillaciD· 1 shared Gabriel LiveraiD· 1 shared Helene Creux· 1 shared Marie Lambert· 1 shared Micheline MisrahiiD· 1 shared Sandrine CaburetiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

Abdelkader HeddarORCID

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1 paper

Recent·Most cited

GeneticsJournal of Medical GeneticsPeer-reviewedJun 1, 2020

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

Sandrine Caburet, Abdelkader Heddar, Elodie Dardillac…·Micheline Misrahi

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

47 citationstop 5%

humanwhole-exome sequencing

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