Author

Jan Maarten Cobben

Imperial College LondonORCID 0000-0002-3551-543XUnclaimed 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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Approach:experimental assay· 2 Organism:human· 2 Organism:zebrafish· 1

Frequent Co-Authors

Boris KereniD· 2 shared M. Mahdi MotazackeriD· 2 shared Abbey Scott· 1 shared Alejandro Iglesias· 1 shared Alexia BourgoisiD· 1 shared Allan Micheil InnesiD· 1 shared Allyn McConkie-Rosell· 1 shared Amir Hossein SaeidianiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Boris KerenORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 20, 2025

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Michelle Hua, Mohamad‐Reza Aghanoori, Melissa J MacPherson…·Guang Yang

The paper identifies CELF2 variants causing cytoplasmic mislocalization linked to neuronal hyperexcitability, learning deficits, and seizures.

3 citations

humanexperimental assay

𝕏 PostBluesky

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMay 13, 2025

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

María del Rocío Pérez Baca, María Palomares‐Bralo, Michiel Vanhooydonck…·Stephanie Baskin

This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.

14 citationstop 2%

𝕏 PostBluesky