List of works - Jamel Chelly

A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα

scientific article

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

scientific journal article

A shape analysis framework for neuromorphometry

scientific article (publication date: 2002)

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

scientific article

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

scientific article published on 01 January 2011

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

scientific article (publication date: 15 April 2002)

Active caspase-8 translocates into the nucleus of apoptotic cells to inactivate poly(ADP-ribose) polymerase-2

scientific journal article

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

scientific article published on 01 October 2018

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown

scientific article

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy

scientific article

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

scientific article

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

scientific article published on 19 March 2020

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy

scientific journal article

Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

scientific article

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

scientific article

Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus

scientific article

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

scientific article

Human disorders of cortical development: from past to present

scientific article

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

scientific article

IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis

scientific article

Key clinical features to identify girls with CDKL5 mutations

scientific article

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized

scientific article (publication date: June 2006)

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

scientific article published in September 2004

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

scientific article published in February 2007

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

scientific article

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes

scientific article (publication date: 2013)

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

scientific article

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

scientific article

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

scientific article published on 9 November 2016

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

scientific article

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

scientific article

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

scientific article published on 18 November 2003

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

scientific article

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

scientific article

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

scientific article (publication date: December 2003)

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

scientific article

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

scientific journal article

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

scientific article

Nonsyndromic X-linked mental retardation: where are the missing mutations?

scientific article

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

scientific article

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

scientific article published on 29 July 2019

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

scientific article published on 18 May 2022

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

scientific article published on 15 August 2019

Synaptic maturation at cortical projections to the lateral amygdala in a mouse model of Rett syndrome

scientific article (publication date: 2010)

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

scientific article published on 13 May 2019

The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain

scientific journal article

The landscape of epilepsy-related GATOR1 variants

scientific article published on 10 August 2018

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

scientific article

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

scientific article published on 19 March 2009

Variants in CUL4B are associated with cerebral malformations

scientific article

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.

scientific article published on 12 October 2017

X-linked congenital ataxia: A new locus maps to Xq25-q27.1

article

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

scientific article

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

scientific article

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

scientific article

List of works by Jamel Chelly

A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

A shape analysis framework for neuromorphometry

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

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

Active caspase-8 translocates into the nucleus of apoptotic cells to inactivate poly(ADP-ribose) polymerase-2

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Correction to: The landscape of epilepsy-related GATOR1 variants

Correction: The landscape of epilepsy-related GATOR1 variants

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy

Defining the phenotypic spectrum of SLC6A1 mutations

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Human disorders of cortical development: from past to present

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis

Key clinical features to identify girls with CDKL5 mutations

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

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

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes

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

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

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

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

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

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

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

Nonsyndromic X-linked mental retardation: where are the missing mutations?

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

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Synaptic maturation at cortical projections to the lateral amygdala in a mouse model of Rett syndrome

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain

The landscape of epilepsy-related GATOR1 variants

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Variants in CUL4B are associated with cerebral malformations

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.

X-linked congenital ataxia: A new locus maps to Xq25-q27.1

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

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

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity