List of works - Lisenka Vissers

1 in 38 individuals at risk of a dominant medically actionable disease

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

scientific article published in October 2003

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

scientific article

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

scientific article published on 23 March 2017

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

scientific article published on 19 December 2012

A de novo paradigm for male infertility

scientific article published on 10 January 2022

A de novo paradigm for mental retardation

scientific article published on 14 November 2010

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

scientific journal article

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

scientific article published on 5 December 2017

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

scientific article

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

scientific article

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

scientific article

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

scientific article published on February 2017

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

scientific article

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

scientific article

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

scientific article

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

scientific article

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes

scientific article published on November 2003

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

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

scientific article published on 25 April 2007

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

scientific article

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

scientific article published on April 2016

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

scientific journal article

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

scientific article published on 18 March 2017

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

scientific article

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

scientific article

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

scientific article published on 19 October 2014

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

scientific article published on 19 January 2012

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

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

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

scientific article published on 06 February 2014

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

scientific article

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

scientific article published on 27 October 2016

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

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

Diagnostic genome profiling in mental retardation

scientific article

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

scientific article

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans

scientific article

Disruptive CHD8 mutations define a subtype of autism early in development

scientific article

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

scientific article

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

scientific article published in 2022

Evidence for 28 genetic disorders discovered by combining healthcare and research data

scientific article published on 14 October 2020

Exome sequencing identifies three novel candidate genes implicated in intellectual disability

scientific article

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

scientific article published on 4 May 2013

Genetic studies in intellectual disability and related disorders

scientific article

Genome sequencing identifies major causes of severe intellectual disability

scientific article

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

scientific article

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

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

scientific article

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

scientific article

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

scientific journal article

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

scientific article

Identification of disease genes by whole genome CGH arrays

scientific article

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

scientific article published on 11 October 2013

Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series

scientific article published on 22 August 2019

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

scientific article published on 8 May 2014

Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing

scientific article published on 14 September 2016

Long-read trio sequencing of individuals with unsolved intellectual disability

scientific article published on 30 November 2020

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

scientific article published in August 2016

Microdeletion and microduplication syndromes.

scientific article

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

scientific article

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

scientific article

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

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

scientific article published in May 2014

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

scientific article

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

scientific journal article

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

scientific article published in March 2012

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

scientific article

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

scientific article

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

scientific article published on 29 April 2012

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

scientific article

NR2F1 mutations cause optic atrophy with intellectual disability.

scientific article published on 23 January 2014

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

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

scientific article published on 10 March 2016

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome

scientific article published in May 2007

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

scientific article published on 20 June 2016

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

scientific article

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

scientific article published in December 2014

Point mutations as a source of de novo genetic disease ⬇️

scientific article published on March 1, 2013

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

scientific article published on 2 July 2015

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

scientific article published on 20 February 2021

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

scientific article

Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

scientific article published in March 2011

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

scientific article

Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype

scientific article

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

scientific article

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture

scientific article published on 8 August 2013

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

scientific article published in April 2012

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

scientific article published on 01 June 2021

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

scientific article published on 01 June 2021

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

scientific article published on 30 August 2017

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

scientific article published on 31 December 2015

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

scientific article

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

scientific article published on 6 September 2017

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

scientific article published on 11 August 2017

Variants in CUL4B are associated with cerebral malformations

scientific article

Variation of CNV distribution in five different ethnic populations

scientific article

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).

scientific article

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

scientific article published on June 2017

List of works by Lisenka Vissers

1 in 38 individuals at risk of a dominant medically actionable disease

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

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

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

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

A de novo paradigm for male infertility

A de novo paradigm for mental retardation

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

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

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

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

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

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

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

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

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

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes

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

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

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

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

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

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

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

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

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

Diagnostic genome profiling in mental retardation

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

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans

Disruptive CHD8 mutations define a subtype of autism early in development

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

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Exome sequencing identifies three novel candidate genes implicated in intellectual disability

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

Genetic studies in intellectual disability and related disorders

Genome sequencing identifies major causes of severe intellectual disability

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

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

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

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

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

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

Identification of disease genes by whole genome CGH arrays

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

Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series

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

Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing

Long-read trio sequencing of individuals with unsolved intellectual disability

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

Microdeletion and microduplication syndromes.

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

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

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

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

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

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

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

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

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

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

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

NR2F1 mutations cause optic atrophy with intellectual disability.

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

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome

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

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

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

Point mutations as a source of de novo genetic disease ⬇️

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