List of works - Hilde Van Esch

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

scientific article

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

scientific article

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

scientific article published on 24 January 2008

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

scientific article

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

scientific article

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

scientific article

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

scientific article

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

scientific article published on November 2015

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

scientific article

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

scientific journal article

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

scientific article published in February 2007

Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy

scientific article published on 16 May 2013

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

scientific article (publication date: October 2011)

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

scientific journal article

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

scientific article

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

scientific article

Network analysis of differential expression for the identification of disease-causing genes

scientific article

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

scientific article published on June 2016

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

scientific article

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

scientific article published on 9 May 2016

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

scientific article

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

scientific article published on 06 May 2016

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality

scientific article published on 13 January 2014

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

scientific article

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

scientific article published on 21 February 2009

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

scientific article

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

scientific journal article

The Fragile X premutation: new insights and clinical consequences

scientific article

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features

scientific article

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

scientific article

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

scientific journal article

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

scientific article published on 18 July 2012

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

scientific article published on 6 October 2015

Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients

scientific article published on July 29, 2015

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Pseudoautosomal region 1 length polymorphism in the human population

scientific article

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

scientific article

Infectious and immunologic phenotype of MECP2 duplication syndrome

scientific article published on 27 February 2015

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

scientific article

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

scientific article published on June 20, 2013

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

scientific article published on 5 December 2017

Duplications of 17q12 can cause familial fever-related epilepsy syndromes

scientific article published on 18 September 2013

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family

scientific article

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability

scientific article published on February 3, 2015

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

scientific article

A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings

scientific article

A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders

scientific article published on 24 September 2009

Direct fluorescent labelling of clones by DOP PCR

scientific article

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

scientific article published on 27 June 2019

List of works by Hilde Van Esch

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

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

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

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

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

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

Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

Network analysis of differential expression for the identification of disease-causing genes

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

The Fragile X premutation: new insights and clinical consequences

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Pseudoautosomal region 1 length polymorphism in the human population

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

Infectious and immunologic phenotype of MECP2 duplication syndrome

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

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

Duplications of 17q12 can cause familial fever-related epilepsy syndromes

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings

A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders

Direct fluorescent labelling of clones by DOP PCR

Paralog Studies Augment Gene Discovery: DDX and DHX Genes