Author

Els Voorhoeve

Amsterdam UMC Location University of AmsterdamORCID 0000-0002-7426-395XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alessandra RenieriiD· 2 shared Alexandre ReymondiD· 2 shared Anke Van DijckiD· 2 shared Anne‐Laure Mosca‐BoidroniD· 2 shared Aurora CurròiD· 2 shared Boris KereniD· 2 shared Cédric Le CaigneciD· 2 shared Charles E. SchwartziD· 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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2 shared papersGenetic & Genomic Medicine

Alessandra RenieriORCID

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2 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

𝕏 PostBluesky

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

𝕏 PostBluesky