Author

Sandrine Maestri

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Genetics· 1

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Organism:human· 1 Approach:statistical model· 1

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Claude FéreciD· 1 shared D.N. CooperiD· 1 shared Emmanuelle MassoniD· 1 shared Jian‐Min CheniD· 1 shared Valérie BordeauiD· 1 shared

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1 shared paperGenetics

Claude FérecORCID

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1 paper

Recent·Most cited

Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a novel disease-causing mechanism

Emmanuelle Masson, Sandrine Maestri, Valérie Bordeau, D.N. Cooper, Claude Férec, Jian‐Min Chen

The paper identifies a novel disease mechanism where an Alu insertion forms dsRNA structures with pre-existing intronic Alu elements, leading to reduced SPINK1 mRNA expression.

The American Journal of Human Genetics · Sep 11, 2024Peer-reviewedGenetics