Renske Oegema

20PUBLICATIONS
335CO-AUTHORS
NeonatologyNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Central nervous systemGene expression (incl. microarray and other genome-wide approaches)
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Publications (20)

|Apr 09, 2026
Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.

Amber S E van Oirsouw, Tzung-Chien Hsieh, Martijn Koetsier

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Nov 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Ghayda M Mirzaa, Keqin Yan, Raissa Relator

|Apr 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Eric N Anderson, Stephan Drukewitz, Sukhleen Kour

|Oct 31, 2024
Brain malformations and seizures by impaired chaperonin function of TRiC.

Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan

|Jul 26, 2024
Prenatal assessment of brain malformations on neuroimaging: an expert panel review.

Ivana Pogledic, Kshitij Mankad, Mariasavina Severino

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