List of works - Martine Raynaud

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

scientific article

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

scientific article

ANNALS EXPRESS: Post-hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability

scientific article published in January 2018

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum ofMED12mutations

article

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

scientific article published on 23 August 2016

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

scientific article

Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

scientific article

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

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

scientific article

GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability

scientific article

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

scientific article published on 09 January 2013

Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3

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

scientific article

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

scientific article published on 6 October 2015

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

scientific article

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation

scientific article published in December 2003

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

scientific article published in February 2007

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

scientific article

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth

scientific article

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

scientific article

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

scientific article

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

scientific article

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

scientific article

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment ⬇️

scientific article published on October 4, 2012

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

article

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis

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

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

scientific journal article

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

scientific article published on 05 May 2020

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

scientific article

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

scientific journal article

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

scientific article

Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French families

scientific article published on 11 January 2013

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

scientific article

List of works by Martine Raynaud

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

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

ANNALS EXPRESS: Post-hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum ofMED12mutations

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

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

Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

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

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

GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3

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

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

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

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation

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

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

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth

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

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

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

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

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment ⬇️

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis

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

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

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

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

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

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

Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French families

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