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Hans van Bokhoven

Hans van Bokhoven

D-Index & Metrics

Genetics

D-Index
101
Citations
30819
World Ranking
732
National Ranking
26

Medicine

D-Index
101
Citations
32333
World Ranking
8055
National Ranking
313

Research.com Recognitions

  • 2019 - Member of Academia Europaea

Overview

Hans van Bokhoven is affiliated with Radboud University in the Netherlands. Their research primarily centers on the fields of biochemistry, genetics, molecular biology, and neuroscience. They have contributed substantially to both main and subfields including molecular biology, genetics, cellular and molecular neuroscience, cognitive neuroscience, and neurology.

The scientist's work addresses a range of topics focused on genetics and neurodevelopmental disorders, genomics and rare diseases, neuroscience and neural engineering, neuroscience and neuropharmacology research, epigenetics and DNA methylation, CRISPR and genetic engineering, and autism spectrum disorder research.

Notable recent publications include:

  • "Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro" (2021) in Stem Cell Reports
  • "Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks" (2021) in Molecular Psychiatry
  • "Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders" (2021) in Autophagy
  • "Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway" (2022) in Cell Reports
  • "The phenomenal epigenome in neurodevelopmental disorders" (2020) in Human Molecular Genetics

Frequent coauthors who have collaborated with Hans van Bokhoven include:

  • Nael Nadif Kasri (20 collaborations)
  • Dirk Schubert (15 collaborations)
  • Tjitske Kleefstra (14 collaborations)
  • Chantal Schoenmaker (11 collaborations)
  • Monica Frega (11 collaborations)

The scientist has published multiple papers in prominent venues, notably:

  • bioRxiv (Cold Spring Harbor Laboratory) with 11 publications
  • The American Journal of Human Genetics with 5 publications
  • Stem Cell Research with 4 publications
  • Genetics in Medicine with 3 publications
  • Cell Reports with 2 publications

Hans van Bokhoven was recognized in 2019 as a Member of Academia Europaea.

Best Publications

  • Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

    Yanick J Crow;Yanick J Crow;Bruce E Hayward;Rekha Parmar;Peter Robins

  • Common genetic variants influence human subcortical brain structures.

    Derrek P. Hibar;Jason L. Stein;Jason L. Stein;Miguel E. Renteria;Alejandro Arias-Vasquez

  • Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

    Jacopo Celli;Pascal Duijf;Ben C.J Hamel;Michael Bamshad

  • Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

    Daniel Beltrán Valero De Bernabé;Sophie Currier;Alice Steinbrecher;Jacopo Celli

  • A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

    Patrick S Tarpey;Raffaella Smith;Erin Pleasance;Annabel Whibley

  • Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

    John A. McGrath;Pascal H.G. Duijf;Volker Doetsch;Alan D. Irvine

  • p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

    Hans van Bokhoven;Ben C.J. Hamel;Mike Bamshad;Eugenio Sangiorgi

  • Genetic and Epigenetic Networks in Intellectual Disabilities

    Hans van Bokhoven

  • Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

    Tjitske Kleefstra;Han G. Brunner;Jeanne Amiel;Astrid R. Oudakker

  • Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

    Uwe Kornak;Ellen Reynders;Aikaterini Dimopoulou;Jeroen Van Reeuwijk

  • Mutations in ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

    K. Kutsche;H.G. Yntema;A. Brandt;I. Jantke

  • p63-associated disorders.

    Tuula Rinne;Hans G. Brunner;Hans van Bokhoven

  • ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

    Thierry Bienvenu;Karine Poirier;Gaelle Friocourt;Nadia Bahi

  • Novel genetic loci associated with hippocampal volume

    Derrek Hibar;Hieab H.H. Adams;Neda Jahanshad;Ganesh Chauhan

  • Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

    Frederic Laumonnier;Nathalie Ronce;Ben C.J. Hamel;Paul Thomas

  • SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

    Vincent Cantagrel;Dirk J. Lefeber;Bobby G. Ng;Ziqiang Guan

  • Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.

    Anika H.D.M. Dam;Isabelle Koscinski;Jan A.M. Kremer;Céline Moutou

  • Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit.

    I C Meij;J B Koenderink;H van Bokhoven;K F Assink

  • Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.

    Lucas T. Jae;Matthijs Raaben;Moniek Riemersma;Ellen van Beusekom

  • X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    H. Hu;S. A. Haas;J. Chelly;J. Chelly;H. Van Esch

Frequent Co-Authors

Han G. Brunner
Han G. Brunner Radboud University
Arjan P.M. de Brouwer
Arjan P.M. de Brouwer Radboud University
Ben C. J. Hamel
Ben C. J. Hamel Radboud University
Tjitske Kleefstra
Tjitske Kleefstra Erasmus University Rotterdam
Hans-Hilger Ropers
Hans-Hilger Ropers Max Planck Society
Joris A. Veltman
Joris A. Veltman University of Edinburgh
Jamel Chelly
Jamel Chelly Institute of Genetics and Molecular and Cellular Biology
Lisenka E.L.M. Vissers
Lisenka E.L.M. Vissers Radboud University
Sheikh Riazuddin
Sheikh Riazuddin University of Health Sciences Lahore
Jozef Gecz
Jozef Gecz University of Adelaide

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