Joery Den Hoed
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 17 publications
Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping Review.
Journal: International journal of neonatal screening
Published: September 03, 2025
Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity.
Journal: HGG advances
Published: May 29, 2025
The NuRD component CHD3 promotes BMP signalling during cranial neural crest cell specification.
Journal: EMBO reports
Published: May 06, 2025
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes.
Journal: Journal of medical genetics
Published: March 26, 2024
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.
Journal: Nature communications
Published: January 25, 2023
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.
Journal: Nature genetics
Published: September 06, 2022
Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.
Journal: Human molecular genetics
Published: July 12, 2022
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Journal: HGG advances
Published: May 23, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 18, 2021
Molecular networks of the FOXP2 transcription factor in the brain.
Journal: EMBO reports
Published: March 05, 2021
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Journal: American journal of human genetics
Published: October 19, 2020
The Ncoa7 locus regulates V-ATPase formation and function, neurodevelopment and behaviour.
Journal: Cellular and molecular life sciences : CMLS
Published: June 05, 2020
Last Updated: 09/26/2026