Author

Vyne van der Schoot

Maastricht University Medical CentreORCID 0000-0001-9829-9220Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1

Frequent Co-Authors

Aimee D. C. PaulusseniD· 1 shared 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 Arthur van den Wijngaard· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aimee D. C. PaulussenORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 13, 2023

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

Patrick R. Blackburn, Frédéric Ebstein, Tzung‐Chien Hsieh…·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.

9 citations

humanstatistical model

𝕏 PostBluesky

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedNov 15, 2021

Pathogenic Neurofibromatosis type 1 (NF1) RNA-splicing resolved by targeted RNAseq

Roelof Koster, Rita D. Brandão, Demis Tserpelis…·Marinus J. Blok

This paper develops a targeted RNAseq approach to detect pathogenic RNA splicing variants in NF1, identifying novel splicing events and confirming splice variants in patients with NF1 symptoms.

27 citations

humanbulk RNA-seq

𝕏 PostBluesky