Author

Jolien W. Roos‐Hesselink

Erasmus MCORCID 0000-0002-6770-3830Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Dieter Peter ReinhardtiD· 1 shared Hanny Odijk· 1 shared Hennie T. BrüggenwirthiD· 1 shared Ingrid M.B.H. van de LaariD· 1 shared Ingrid van der PluijmiD· 1 shared Jeroen EssersiD· 1 shared Judith M. A. VerhageniD· 1 shared Lisa M. van den BersselaariD· 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 paperGenetics

Dieter Peter ReinhardtORCID

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1 paper

Recent·Most cited

GeneticsHuman Molecular GeneticsPeer-reviewedMar 6, 2024

Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz Syndrome patients provides insights into genotype-phenotype relations

Nathalie P. Vroegindeweij-de Wagenaar, Lisa M. van den Bersselaar, Hanny Odijk…·Jeroen Essers

This study investigates the functional impact of SMAD3 variants in patient-derived cells, showing distinct effects of dominant negative and haploinsufficient variants on disease manifestations and age of onset.

4 citations

humanstatistical model