Author

Nathalie Marle

CHU Dijon BourgogneORCID 0000-0001-7628-3869Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Organism:human· 3 Approach:statistical model· 3 Research Focus:gene regulatory network inference· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alexandre ReymondiD· 3 shared Boris KereniD· 3 shared Joris Andrieux· 3 shared Laurence Olivier FaivreiD· 3 shared Patrick CallieriD· 3 shared Alessandra RenieriiD· 2 shared Anke Van DijckiD· 2 shared Anne‐Laure Mosca‐BoidroniD· 2 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenomics

Alexandre ReymondORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineCellPeer-reviewedOct 7, 2025

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina…·Santhosh Girirajan

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

18 citationstop 1%

humanstatistical model

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GenomicsbioRxivPreprintJul 17, 2020

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

Nicolas Chatron, Giuliana Giannuzzi, Pierre‐Antoine Rollat‐Farnier…·Caroline Schluth‐Bolard

The paper analyzes chromoanagenesis breakpoints in constitutional and cancer cases, finding enrichment in late-replicating chromatin and suggesting similar mechanisms for both.

14 citations

humanwhole-genome sequencing

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GenomicsGenetics in MedicinePeer-reviewedSep 5, 2018

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

Lucilla Pizzo, Matthew Jensen, Andrew Polyak…·Santhosh Girirajan

The paper shows that rare secondary mutations in functionally intolerant genes affect the expressivity of neurodevelopmental disorders in individuals with primary mutations.

193 citationstop 1%

humanwhole-exome sequencing

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