2019 - Member of Academia Europaea
His main research concerns Genetics, Gene, Mutation, Molecular biology and Phenotype. His Genetics study is mostly concerned with Locus, Missense mutation, X chromosome, Walker–Warburg syndrome and TP63. His work on X-linked intellectual disability, Regulation of gene expression and Gene duplication as part of general Gene study is frequently connected to Spermiogenesis, therefore bridging the gap between diverse disciplines of science and establishing a new relationship between them.
Hans van Bokhoven interconnects Endocrinology, Glycosylation, Haploinsufficiency, Internal medicine and Microcephaly in the investigation of issues within Mutation. His study focuses on the intersection of Molecular biology and fields such as Frameshift mutation with connections in the field of Nonsense mutation, Retinitis pigmentosa, Transactivation and Alternative splicing. His studies in Phenotype integrate themes in fields like Gene dosage, Intellectual disability and Medical genetics.
The scientist’s investigation covers issues in Genetics, Gene, Mutation, Phenotype and Missense mutation. His study in Genetics concentrates on Exome sequencing, Intellectual disability, X chromosome, Microcephaly and Frameshift mutation. In his study, Neuroscience is strongly linked to Autism, which falls under the umbrella field of Intellectual disability.
His biological study spans a wide range of topics, including Genetic linkage and Developmental disorder. His research in Microcephaly focuses on subjects like Haploinsufficiency, which are connected to Histone methyltransferase. The study incorporates disciplines such as Ectodermal dysplasia, Endocrinology, Molecular biology, Internal medicine and Exon in addition to Mutation.
Hans van Bokhoven mostly deals with Genetics, Neuroscience, Gene, Exome sequencing and Intellectual disability. His Missense mutation, Microcephaly, Frameshift mutation, Penetrance and Allele study are his primary interests in Genetics. His Neuroscience research is multidisciplinary, incorporating perspectives in EHMT1, Histone methyltransferase, Neurodevelopmental disorder, Autism and Kleefstra Syndrome.
His study in the fields of Phenotype, Gene expression and Mutation under the domain of Gene overlaps with other disciplines such as Genetic correlation. His Exome sequencing research is multidisciplinary, relying on both In silico, Nonsense, Megalencephaly and Mendelian inheritance. His Intellectual disability research incorporates elements of Young adult, Severity of illness and Autism spectrum disorder.
Genetics, Neuroscience, Gene, Exome sequencing and Autism are his primary areas of study. Microcephaly, Penetrance, Exome, Mutation and Frameshift mutation are among the areas of Genetics where the researcher is concentrating his efforts. His work carried out in the field of Mutation brings together such families of science as Cerebellum and Hypoplasia.
His studies deal with areas such as EHMT1, Histone methyltransferase, Genome-wide association study, Neurodevelopmental disorder and Kleefstra Syndrome as well as Neuroscience. His study in Gene focuses on Phenotype in particular. His Autism research includes elements of Drosophila melanogaster and Long-term memory, Cognition.
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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.
American Journal of Human Genetics (2002)
Common genetic variants influence human subcortical brain structures.
Derrek P. Hibar;Jason L. Stein;Jason L. Stein;Miguel E. Renteria;Alejandro Arias-Vasquez.
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Patrick S Tarpey;Raffaella Smith;Erin Pleasance;Annabel Whibley.
Nature Genetics (2009)
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.
Nature Genetics (2006)
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.
American Journal of Human Genetics (2006)
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.
Human Molecular Genetics (2001)
Genetic and Epigenetic Networks in Intellectual Disabilities
Hans van Bokhoven.
Annual Review of Genetics (2011)
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.
American Journal of Human Genetics (2001)
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Uwe Kornak;Ellen Reynders;Aikaterini Dimopoulou;Jeroen Van Reeuwijk.
Nature Genetics (2008)
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