Author

Caroline Bénech

Inserm

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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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Kévin UgueniD· 2 shared Sylvia RedoniD· 2 shared Alexandre ReymondiD· 1 shared Alfredo BruscoiD· 1 shared Amanda G. NoyesiD· 1 shared Andrea BartuliiD· 1 shared Andrew S. AlleniD· 1 shared Angela E. ScheuerleiD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Kévin UguenORCID

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2 papers

Recent·Most cited

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima Abidi, Ashlyn G. Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann‐Gagescu, Andrea Bartuli, Caroline Bénech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, , Gregory M. Cooper

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

medRxiv · Sep 29, 2022 · PreprintGenetic & Genomic Medicine

De Novo Mutation in an Enhancer of EBF3 in simplex autism

Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta S. Byrska‐Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Bénech, Kévin Uguen, Séverine Audebert‐Bellanger, Cédric Le Maréchal, Claude Férec, Stéphanie Efthymiou, , Tychele N. Turner

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.

Human Genomics · Jul 13, 2021Peer-reviewedGenomics