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H. van Bokhoven

Radboud University Nijmegen

79

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1857

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KMT2D haploinsufficiency in Kabuki Syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation

2021 bioRxiv
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De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

2020 Genetics in Medicine
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KANSL1 Deficiency Causes Neuronal Dysfunction by Oxidative Stress-Induced Autophagy

2020 bioRxiv
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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

2018 Molecular Psychiatry
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Inhibitory control of the excitatory/inhibitory balance in psychiatric disorders

2018 F1000Research
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Drosophila Courtship Conditioning As a Measure of Learning and Memory

2017 Journal of Visualized Experiments
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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

2017 Molecular Psychiatry
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Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability

2017 Gene
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Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia

2017 Clinical and Experimental Dermatology
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MicroRNA-338 Attenuates Cortical Neuronal Outgrowth by Modulating the Expression of Axon Guidance Genes

2017 Molecular Neurobiology
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