Author

Brian Broadbent

Centre National de la Recherche ScientifiqueORCID 0009-0005-9936-7244Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alisée Pengam· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Ben WeisburdiD· 1 shared Benjamin CognéiD· 1 shared Bertrand IsidoriD· 1 shared Carlos A. BacinoiD· 1 shared Damien SanlavilleiD· 1 shared Daniel G. MacArthuriD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alisée Pengam

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 31, 2024

Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA

Vijay S Ganesh, Kevin Riquin, Nicolas Chatron…·Anne O’Donnell‐Luria

The paper identifies a novel neurodevelopmental disorder caused by de novo deletion of the lncRNA CHASERR, showing its role in regulating CHD2 expression and causing developmental and epileptic encephalopathy.

6 citations

humanDNA methylation

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