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J.H.L.M. van Bokhoven

Radboud University Nijmegen

33

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Mutant p63 affects epidermal cell identity through rewiring the enhancer landscape

2018 bioRxiv
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Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET

2013 Proceedings of the National Academy of Sciences of the United States of America
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Kleefstra Syndrome, an example of a single gene defect (EHMT1) with important neurocognitive consequences

2013
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Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

2012 Journal of Medical Genetics
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Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant robinow syndrome

2010 Clinical Genetics
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Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

2010 Neurology
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Citations (33)
Mutations in different components of FGF signaling in LADD syndrome.

2006 Nature Genetics
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A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21

2005 Journal of Medical Genetics
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POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

2005 Journal of Medical Genetics
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Human syndromes with congenital patellar anomalies and the underlying gene defects

2005 Clinical Genetics
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