List of works - Tjitske Kleefstra

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

scientific article published on 31 July 2013

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 complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

scientific article published on 16 January 2014

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 microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

scientific article published on 6 October 2015

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

scientific article published on 13 April 2016

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

scientific article published on 5 December 2017

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

scientific article published on 16 February 2017

Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1-q26.2.

scientific article

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

scientific article published on 22 December 2017

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

scientific article

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

scientific article published on 19 July 2016

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

scientific article

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

scientific article

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

scientific article

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects

scientific article published on 19 March 2009

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

scientific article published on 27 January 2016

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in November 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in January 2018

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

scientific article

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

scientific article published in November 2017

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 Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

scientific article published on 12 June 2020

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

scientific article published on 28 March 2019

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

scientific journal article

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

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

scientific article

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

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

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

scientific article published on March 2016

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

scientific article

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

scientific article

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

scientific article published on 15 October 2019

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

scientific article published on 01 January 2020

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

scientific article

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

scientific article published on 29 July 2019

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

scholarly article published in European Journal of Human Genetics

Extreme growth failure is a common presentation of ligase IV deficiency

scientific article

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

scientific article published on 25 October 2017

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

scientific article published on September 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

scientific article published on 26 November 2014

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

Genome sequencing identifies major causes of severe intellectual disability

scientific article

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

scientific article published in 2022

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

scientific article

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

scientific article published on 8 June 2011

Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation

scientific article

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

scientific article published on 11 July 2016

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

scientific article published on 9 April 2017

High prevalence of SLC6A8 deficiency in X-linked mental retardation

scientific article

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

scientific article

Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling

scientific article published on 29 June 2016

Homozygosity mapping in outbred families with mental retardation

scientific article

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

scientific journal article

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

scientific article

Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features

scientific article published in August 2000

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

scientific article published on 11 October 2013

In-frame deletion inMECP2 causes mild nonspecific mental retardation

scientific article published on 01 January 2002

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

scientific article published in March 2006

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

scientific article published on 8 May 2014

Kleefstra Syndrome

scientific article

Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.

scientific article

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

scientific article

Low frequency of MECP2 mutations in mentally retarded males

scientific article

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

scientific article published in January 2004

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

scientific article published in August 2016

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

scientific article

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

scientific article published in February 2007

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 MED12 cause X-linked Ohdo syndrome

scientific article published on 7 February 2013

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

scientific article

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

scientific article

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

scientific article published on 30 October 2019

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

scientific article

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

scientific article published on 10 March 2016

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

scientific article

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

scientific article published on April 19, 2012

Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders

scientific article published on 30 November 2021

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

scientific article published on May 2013

Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation

scientific article

Pure subtelomeric microduplications as a cause of mental retardation

scientific article published in October 2007

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

scientific article

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

scientific article published on 01 March 2010

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

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

scientific article published on 18 September 2014

Renpenning syndrome comes into focus

scientific article (publication date: May 2005)

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

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

scientific journal article

The chromosome 9q subtelomere deletion syndrome

scientific article published on November 2007

The genetics of cognitive epigenetics.

scientific article published on 13 January 2014

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

scientific article

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

scientific article

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

scientific article published on 9 April 2018

Variability in dentofacial phenotypes in four families with WNT10A mutations

scientific article

Variants in CUL4B are associated with cerebral malformations

scientific article

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

scientific article

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

scientific article

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

scientific article published in May 2004

List of works by Tjitske Kleefstra

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

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 complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

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

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

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

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1-q26.2.

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

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

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

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

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

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

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

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

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

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

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

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

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

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

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

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

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

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

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

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

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

Extreme growth failure is a common presentation of ligase IV deficiency

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

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

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

Genome sequencing identifies major causes of severe intellectual disability

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

High prevalence of SLC6A8 deficiency in X-linked mental retardation

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

Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling

Homozygosity mapping in outbred families with mental retardation

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

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

Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features

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

In-frame deletion inMECP2 causes mild nonspecific mental retardation

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

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

Kleefstra Syndrome

Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.

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

Low frequency of MECP2 mutations in mentally retarded males

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

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

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

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

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 MED12 cause X-linked Ohdo syndrome

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

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling