List of works - Tjitske Kleefstra

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 the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

scientific article

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

scientific 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 mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

scientific article

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

scientific article

High prevalence of SLC6A8 deficiency in X-linked mental retardation

scientific article

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

scientific article

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

scientific article

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

scientific article published in March 2012

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

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.

scientific article

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

scientific journal article

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

scientific article

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

scientific article published in February 2007

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

scientific article published on 23 March 2017

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

scientific article

Mutations in MED12 cause X-linked Ohdo syndrome

scientific article published on 7 February 2013

De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy

scientific article published on February 27, 2015

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

scientific article published on March 2016

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

scientific article published on 11 October 2013

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

scientific article

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

scientific article published on 8 May 2014

Extreme growth failure is a common presentation of ligase IV deficiency

scientific article

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

scientific article

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

scientific article published on 19 July 2016

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

scientific article

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

scientific article

The chromosome 9q subtelomere deletion syndrome

scientific article published on November 2007

In-frame deletion inMECP2 causes mild nonspecific mental retardation

scientific article published on 01 January 2002

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

scientific article published in May 2004

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

scientific article

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

scientific journal article

Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome

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

The genetics of cognitive epigenetics.

scientific article published on 13 January 2014

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

scientific article

Low frequency of MECP2 mutations in mentally retarded males

scientific article

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

scientific article published on April 19, 2012

Renpenning syndrome comes into focus

scientific article (publication date: May 2005)

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

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

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

scientific article published on 19 December 2013

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

scientific article published on 25 October 2017

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes

scientific article

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

scientific article published on 26 November 2014

X-linked mental retardation: further lumping, splitting and emerging phenotypes

scientific article

List of works by Tjitske Kleefstra

Diagnostic exome sequencing in persons with severe intellectual disability

Genome sequencing identifies major causes of severe intellectual disability

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

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

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 mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

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

High prevalence of SLC6A8 deficiency in X-linked mental retardation

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

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

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

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

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.

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

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

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

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

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

Mutations in MED12 cause X-linked Ohdo syndrome

De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

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

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

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

Extreme growth failure is a common presentation of ligase IV deficiency

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

The chromosome 9q subtelomere deletion syndrome

In-frame deletion inMECP2 causes mild nonspecific mental retardation

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome

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

The genetics of cognitive epigenetics.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

Low frequency of MECP2 mutations in mentally retarded males

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

Renpenning syndrome comes into focus

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

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

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

X-linked mental retardation: further lumping, splitting and emerging phenotypes