List of works - Lisenka Vissers

Diagnostic exome sequencing in persons with severe intellectual disability

article by Joep de Ligt et al published 15 November 2012 in The New England Journal of Medicine

Genome sequencing identifies major causes of severe intellectual disability

scientific article

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

scientific article

A de novo paradigm for mental retardation

scientific article published on 14 November 2010

Diagnostic genome profiling in mental retardation

scientific article

Disruptive CHD8 mutations define a subtype of autism early in development

scientific article

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

scientific article

Refining analyses of copy number variation identifies specific genes associated with developmental delay

scientific article

Genetic studies in intellectual disability and related disorders

scientific article

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

scientific article

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

scientific article

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

scientific article

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

scientific article published in August 2016

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

article by Alexander Hoischen et al published 26 June 2011 in Nature Genetics

A recent bottleneck of Y chromosome diversity coincides with a global change in culture

scientific article

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

scientific article

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

scientific article

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

scientific article

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

scientific article

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

scientific article published on 29 April 2012

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

scientific article published on 2 July 2015

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

scientific article

Parent-of-origin-specific signatures of de novo mutations

scientific article published on 20 June 2016

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

scientific article

Identification of disease genes by whole genome CGH arrays

scientific article

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

scientific article published in March 2012

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

scientific article

Detection of clinically relevant copy number variants with whole-exome sequencing

scientific article

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells

article

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

scientific article

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

scientific article published on 19 January 2012

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

scientific article

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

scientific article

Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

scientific article published in March 2011

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

scientific article published on 27 October 2016

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

scientific article published on 23 March 2017

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

scientific article

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

scientific article

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

scientific article published on 11 October 2013

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

scientific article published in June 2008

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

scientific article published on 8 May 2014

12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH.

scientific article published in October 2003

Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

scientific article published on 01 August 2007

Mobster: accurate detection of mobile element insertions in next generation sequencing data

scientific article

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

scientific article

Microdeletion and microduplication syndromes.

scientific article

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

scientific article published in May 2014

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.

scientific article

List of works by Lisenka Vissers

Diagnostic exome sequencing in persons with severe intellectual disability

Genome sequencing identifies major causes of severe intellectual disability

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

A de novo paradigm for mental retardation

Diagnostic genome profiling in mental retardation

Disruptive CHD8 mutations define a subtype of autism early in development

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Genetic studies in intellectual disability and related disorders

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

A recent bottleneck of Y chromosome diversity coincides with a global change in culture

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

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

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

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

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

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

Parent-of-origin-specific signatures of de novo mutations

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

Identification of disease genes by whole genome CGH arrays

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

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

Detection of clinically relevant copy number variants with whole-exome sequencing

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH.

Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

Mobster: accurate detection of mobile element insertions in next generation sequencing data

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

Microdeletion and microduplication syndromes.

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.