Hans van Bokhoven

机构：Radboud University Nijmegen, University Medical Center, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Donders Institute for Brain, Cognition and Behaviour · ORCID：0000-0002-2153-9254

发表论文 525 篇 · 总被引 30301 次 · h-index 98

代表论文

• Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway (2022 · Cell Reports · 被引 75)
• SCN1A -deficient excitatory neuronal networks display mutation-specific phenotypes (2023 · Brain · 被引 59)
• Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis (2023 · Nature Genetics · 被引 40)
• Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries (2024 · Nature Genetics · 被引 24)
• Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome (2024 · The American Journal of Human Genetics · 被引 21)
• Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome (2022 · Human Mutation · 被引 19)