Author

Mariel Alders

Amsterdam University Medical Centers

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alban C. ZiegleriD· 1 shared Alexander P.A. StegmanniD· 1 shared Alice GoldenbergiD· 1 shared Andrea CiolfiiD· 1 shared Anita M. RauchiD· 1 shared Anne‐Marie GuerrotiD· 1 shared Bénédicte GérardiD· 1 shared Benjamin CognéiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alban C. ZieglerORCID

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1 paper

Recent·Most cited

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Patrick R. Blackburn, Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert, Tuula Rinne, Isabelle Thiffault, Michele Rapp, Mariel Alders, Saskia M. Maas, Bénédicte Gérard, Thomas Smol, Catherine Vincent‐Delorme, Benjamin Cogné, , Tianyun Wang

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

medRxiv · Jun 13, 2023 · PreprintGenetic & Genomic Medicine