Hans Van Bokhoven - Genetic Mutations

Author Information

H. van Bokhoven is affiliated with the Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour at Radboud University Medical Center, located in Nijmegen, The Netherlands. Renowned for his significant contributions to the field of human genetics, his research primarily focuses on neurogenetics and neurodevelopmental disorders.

Research Contributions

H. van Bokhoven has made substantial contributions to the understanding of genetic underpinnings of neurodevelopmental disorders and neurogenetics. His recent research includes the generation of induced pluripotent stem cell lines using CRISPR/Cas9, exploring phenotypic and mutational spectra of syndromes such as Robinow syndrome, and investigating the role of bi-allelic variants in neurodevelopmental disorders. His work on human neuronal networks and their application in studying disease-specific genotype-phenotype correlations in vitro is particularly noteworthy. Additionally, his studies on the complexities of genes like CACNA1A and the schizophrenia risk gene SETD1A have provided deep insights into their roles in neurological conditions.

Aliases

H. van Bokhoven is also known by several aliases including H Van Bokhoven, H. Van Bokhoven, and Hans Van Bokhoven.

Publication and Citation Metrics

Metric	Value
Citation Count	13,628
h-index	70
Paper Count	226

Publications:

Generation of induced pluripotent stem cell lines carrying monoallelic (UCSFi001-A-60) or biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A using CRISPR/Cas9.

DOI: 10.1016/j.scr.2022.102730

Year: 2022

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

DOI: 10.1002/humu.24375

Year: 2022

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

DOI: 10.1016/j.ajhg.2022.02.001

Year: 2022

Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro

DOI: 10.1101/2021.01.20.427439

Year: 2021

The complexities of CACNA1A in clinical neurogenetics

DOI: 10.1007/s00415-021-10897-9

Year: 2021

Schizophrenia: Complement Cleaning or Killing

DOI: 10.3390/genes12020259

Year: 2021

Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through cAMP/PKA pathway

DOI: 10.1101/2021.05.25.445613

Year: 2021

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.

DOI: 10.1038/s41436-021-01133-w

Year: 2021

Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias

DOI: 10.1007/s12015-021-10184-0

Year: 2021

Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks

DOI: 10.1038/s41380-021-01117-x

Year: 2021

How is Third Generation Sequencing Used in Research and Medicine?

What Can Karyotyping Detect?

What is the Role of Epigenetics in Brain Development?

How does Radiation Cause Induced Mutations?

What Causes Cellular Heterogeneity?

What Causes the Mutation in HbS?

What are Autism Spectrum Disorders?

What is the Future of Genetic Mutation Diagnostics?

What Are the Treatment Options for Sickle Cell Disease?

How Do Genetic Mutations Affect Agriculture?

Partnered Content Networks

Relevant Topics