List of works - Koen Van Gassen

A New Approach for Fast Metabolic Diagnostics in CMAMMA.

scientific article published on 27 February 2016

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

scientific article published on 18 October 2013

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

scientific article published on 22 August 2019

Aminoacyl-tRNA synthetase deficiencies in search of common themes

scientific article published on 06 June 2018

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published in Nature Communications

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published on 02 May 2019

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

scientific article published on 22 February 2018

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

scientific article

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.

scientific article published on 30 January 2018

Bi-allelic mutations in result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

scientific article published on 17 August 2018

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

scientific article published on 14 May 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published in Nature Communications

Characterization of febrile seizures and febrile seizure susceptibility in mouse inbred strains.

scientific article

Chronic exposure to the chemokine CCL3 enhances neuronal network activity in rat hippocampal cultures.

scientific article

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

scientific article published on 5 July 2018

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

scientific article published on 25 July 2019

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

scientific article published on 01 February 2019

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

scientific article published on 27 December 2018

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

scientific article

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

scientific journal article

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

scientific article published in November 2017

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

scientific article published on August 2017

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

scientific article published on 13 April 2016

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

scientific article published on 11 July 2019

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

scientific article published on 27 February 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 heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype

scientific article published on 07 February 2020

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 KIAA2022 in females cause intellectual disability and intractable epilepsy

scientific article published on 29 June 2016

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

scientific article published on 05 July 2019

De novo variants in CDK13 associated with syndromic ID/DD; molecular and clinical delineation of 15 individuals and a further review.

scientific article published on 2 February 2018

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

scientific article published on 24 January 2019

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

scientific article published on 21 August 2019

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

scientific article

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

scientific article published on 20 December 2018

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

Expression Profiling after Prolonged Experimental Febrile Seizures in Mice Suggests Structural Remodeling in the Hippocampus

scientific article

Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency

scientific article published on 28 May 2019

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

scientific article published on 10 September 2012

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

scientific article published on 18 September 2017

Haploinsufficiency of glutamine synthetase increases susceptibility to experimental febrile seizures.

scientific article published on 17 December 2008

Hippocampal Nabeta3 expression in patients with temporal lobe epilepsy

scientific article published on 26 January 2009

Hippocampal distribution of vesicular glutamate transporter 1 in patients with temporal lobe epilepsy.

scientific article published on 6 April 2009

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

scientific article

Identification of human D lactate dehydrogenase deficiency

scientific article published on 01 April 2019

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.

scientific article published on January 2017

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

scientific article

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

scientific article published on 27 December 2018

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

scientific article published on 19 June 2017

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

scientific article published on 25 April 2019

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

scientific journal article

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

scientific article published on 4 January 2017

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.

scientific article

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

scientific journal article

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

scientific article published on 05 June 2017

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

scientific journal article

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

scientific article published on 04 April 2019

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

scientific article published on 25 January 2019

Phenotype delineation of ZNF462 related syndrome

scientific article published on 30 July 2019

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.

scientific article published on 5 July 2015

Points to consider for laboratories reporting results from diagnostic genomic sequencing

scientific article published on 28 November 2017

Possible role of the innate immunity in temporal lobe epilepsy.

scientific article published on 11 December 2007

Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations

scientific article published on 19 November 2016

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

scientific article

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

scientific article published on 08 September 2018

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

scientific article

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

scientific article published in Nature Communications

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

scientific article published on 24 January 2017

Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders

scientific article published on 24 October 2019

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

scientific article published on 07 February 2020

The chemokine CCL2 modulates Ca2+ dynamics and electrophysiological properties of cultured cerebellar Purkinje neurons

scientific journal article

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry

scientific article published on 27 December 2012

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

scientific article

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

scientific article published in July 2017

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis

scientific article published on 29 June 2018

List of works by Koen Van Gassen

A New Approach for Fast Metabolic Diagnostics in CMAMMA.

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

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

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.

Bi-allelic mutations in result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Characterization of febrile seizures and febrile seizure susceptibility in mouse inbred strains.

Chronic exposure to the chemokine CCL3 enhances neuronal network activity in rat hippocampal cultures.

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

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

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

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

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

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

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype

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 KIAA2022 in females cause intellectual disability and intractable epilepsy

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

De novo variants in CDK13 associated with syndromic ID/DD; molecular and clinical delineation of 15 individuals and a further review.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

Expression Profiling after Prolonged Experimental Febrile Seizures in Mice Suggests Structural Remodeling in the Hippocampus

Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

Haploinsufficiency of glutamine synthetase increases susceptibility to experimental febrile seizures.

Hippocampal Nabeta3 expression in patients with temporal lobe epilepsy

Hippocampal distribution of vesicular glutamate transporter 1 in patients with temporal lobe epilepsy.

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

Identification of human D lactate dehydrogenase deficiency

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

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

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Phenotype delineation of ZNF462 related syndrome

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.

Points to consider for laboratories reporting results from diagnostic genomic sequencing

Possible role of the innate immunity in temporal lobe epilepsy.

Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

The chemokine CCL2 modulates Ca2+ dynamics and electrophysiological properties of cultured cerebellar Purkinje neurons

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis