Author

Lionel Van Maldergem

Université de Franche-ComtéORCID 0000-0001-8880-5214Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:differential expression· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Aaron R. JeffriesiD· 1 shared Adam W. HanseniD· 1 shared Adekunle M. AdesinaiD· 1 shared Ajith KumariD· 1 shared Alper GezdiriciiD· 1 shared Amanda SpringeriD· 1 shared Amélie PitoniD· 1 shared Andrew H. CrosbyiD· 1 shared

Activity by Year

2018-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 14 mutual co-author links

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1 shared paperGenetics

Aaron R. JeffriesORCID

Mutual co-authors in cluster

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4 papers

Recent·Most cited

GeneticsMolecular PsychiatryPeer-reviewedNov 29, 2023

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome

Jérémie Courraud, Camille Engel, Angélique Quartier…·Amélie Piton

This study investigates the molecular consequences of PQBP1 deficiency in Renpenning syndrome by analyzing gene expression and protein interactions, identifying dysregulated genes and a novel UPF3B isoform.

10 citations

humanbulk RNA-seq

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GeneticsbioRxivPreprintApr 14, 2021

MG132 induces progerin clearance and improves disease phenotypes in fibroblasts of patients affected with Hutchinson-Gilford Progeria-like syndromes

Karim Harhouri, Pierre Cau, Frank A Casey…·Nicolas Lévy

This study shows that MG132 reduces Progerin levels and improves cellular phenotypes in HGPS-like patient fibroblasts through autophagy and splicing regulation.

DOI 10.1101/2021.04.14.439612

humanexperimental assay

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GeneticsGenome ResearchPeer-reviewedJul 1, 2019

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

Aaron R. Jeffries, Reza Maroofian, Claire G. Salter…·Emma L. Baple

The paper identifies epigenetic aging abnormalities in growth disorders caused by mutations in epigenetic regulatory molecules.

61 citations

humanDNA methylation

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GeneticsAnnals of Clinical and Translational NeurologyPeer-reviewedSep 15, 2018

Phenotypic expansion in DDX3X -- a common cause of intellectual disability in females

Xia Wang, Jennifer Ellen Posey, Jill Anne Rosenfeld…·Paolo M. Moretti

The paper identifies additional DDX3X variants in individuals with intellectual disability and expands the known phenotypic spectrum of DDX3X disorders.

84 citationstop 3%

human

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