Author

Marie‐José H. van den Boogaard

University Medical Center UtrechtORCID 0000-0002-3100-9337Unclaimed 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 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Organism:mouse· 1

Frequent Co-Authors

Bernt PoppiD· 2 shared Boris KereniD· 2 shared Cyril MignotiD· 2 shared Koen L.I. van GasseniD· 2 shared Konrad PlatzeriD· 2 shared Pia ZacheriD· 2 shared Richard H. van JaarsveldiD· 2 shared Alba Sanchis‐JuaniD· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bernt PoppORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 24, 2024

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Maolei Gong, Jiayi Li, Yijun Liu…·Xiaoli Chen

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

DOI 10.1101/2024.04.24.24304501

humanmouse

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedDec 9, 2020

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Chiara Klöckner, Heinrich Sticht, Pia Zacher…·Konrad Platzer

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

47 citations

humanstatistical model