Lista de obras - Lisenka Vissers - Dominio Público Uruguay

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.

artículo científico publicado en 2003

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

A de novo paradigm for male infertility

artículo científico publicado en 2022

A de novo paradigm for mental retardation.

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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

artículo científico publicado en 2015

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Disruptive CHD8 mutations define a subtype of autism early in development

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2022

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

artículo científico publicado en 2020

Exome sequencing identifies three novel candidate genes implicated in intellectual disability

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Genetic studies in intellectual disability and related disorders

artículo científico publicado en 2015

Genome sequencing identifies major causes of severe intellectual disability

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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.

artículo científico publicado en 2013

Identification of disease genes by whole genome CGH arrays

artículo científico publicado en 2005

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

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2016

Microdeletion and microduplication syndromes.

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

NR2F1 mutations cause optic atrophy with intellectual disability.

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Point mutations as a source of de novo genetic disease.

artículo científico

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

artículo científico publicado en 2015

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

artículo científico publicado en 2021

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

artículo científico publicado en 2009

Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2021

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

artículo científico publicado en 2021

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

Variation of CNV distribution in five different ethnic populations

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico

Lista de obras de 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