List of works - Hans van Bokhoven

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

scientific article

Common genetic variants influence human subcortical brain structures

scientific article

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

scientific article (publication date: 15 October 1999)

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

scientific article

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

scientific article

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

scientific article

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

scientific article

Genetic and epigenetic networks in intellectual disabilities.

scientific article published on 09 September 2011

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

scientific article

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

scientific article published on 17 July 2001

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

scientific article (publication date: 15 April 2002)

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

scientific article published on 21 March 2013

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

scientific article

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

scientific article

p63-associated disorders.

scientific article published on 3 February 2007

A C-terminal inhibitory domain controls the activity of p63 by an intramolecular mechanism

scientific article

Complex transcriptional effects of p63 isoforms: identification of novel activation and repression domains

scientific article

Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

scientific article

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

scientific article published in May 2004

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

scientific article

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

scientific journal article

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

scientific article published on 24 January 2008

MicroRNA networks direct neuronal development and plasticity.

scientific article published on 11 August 2011

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

scientific article

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

scientific article

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

scientific article

Mutations in different components of FGF signaling in LADD syndrome

scientific article

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

scientific article

Epigenetic regulation of learning and memory by Drosophila EHMT/G9a

scientific article

WNT5A mutations in patients with autosomal dominant Robinow syndrome

scientific article

Novel genetic loci underlying human intracranial volume identified through genome-wide association

scientific article (publication date: 3 October 2016)

Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice.

scientific article published on 26 April 2010

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

scientific article

Pathogenesis of split-hand/split-foot malformation.

scientific article

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

scientific article

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

scientific article

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

scientific article published on 28 January 2013

Splitting p63

scientific article

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

scientific article (publication date: December 2003)

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

scientific article published in March 2012

The Opitz syndrome gene product, MID1, associates with microtubules

scientific article

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

scientific article

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

scientific article

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

scientific article

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

scientific article

Mutations in the human TBX4 gene cause small patella syndrome

scientific article

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

scientific article

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

scientific article published on 14 April 2007

Mutations in the p53 homolog p63: allele-specific developmental syndromes in humans.

scientific article

List of works by Hans van Bokhoven

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

Common genetic variants influence human subcortical brain structures

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

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

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

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

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

Genetic and epigenetic networks in intellectual disabilities.

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

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

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

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

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

p63-associated disorders.

A C-terminal inhibitory domain controls the activity of p63 by an intramolecular mechanism

Complex transcriptional effects of p63 isoforms: identification of novel activation and repression domains

Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

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

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

MicroRNA networks direct neuronal development and plasticity.

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

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

Mutations in different components of FGF signaling in LADD syndrome

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

Epigenetic regulation of learning and memory by Drosophila EHMT/G9a

WNT5A mutations in patients with autosomal dominant Robinow syndrome

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice.

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

Pathogenesis of split-hand/split-foot malformation.

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

Novel genetic loci associated with hippocampal volume

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

Splitting p63

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

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

The Opitz syndrome gene product, MID1, associates with microtubules

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

Mutations in the human TBX4 gene cause small patella syndrome

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

Mutations in the p53 homolog p63: allele-specific developmental syndromes in humans.