List of works - Mireille Claustres

A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).

scientific article

A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo

scientific article

A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene

scientific article published on 05 April 2013

A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants

scientific article

A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis

scientific article

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

scientific article (publication date: 2002)

A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family

scientific article published in March 2002

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

scientific article

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

scientific article

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

scientific article

Assessment of the latest NGS enrichment capture methods in clinical context

scientific article published on 11 February 2016

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

scientific article published on 12 October 2016

Association of bone morphogenetic proteins with otosclerosis

scientific article published on April 2008

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations

scientific article

CFTR genotypes in patients with normal or borderline sweat chloride levels

article published in 2003

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

scientific article

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

scientific article

Cardiovascular manifestations in men and women carrying a FBN1 mutation

scientific article published on 13 August 2010

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

scientific article

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

scientific article

Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy

scientific article published on 14 August 2014

Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders

scientific article

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene

scientific article

Current and future molecular approaches in the diagnosis of cystic fibrosis

scientific article

Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia

scientific article published on October 2009

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations

scientific article

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene

scientific article published on 15 September 2011

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

scientific article

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

scientific article published on 29 October 2014

Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene

scientific article published on 3 June 2013

Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia

scientific article

Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results

scientific article published in August 2004

Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots

scientific article published on 15 July 2014

Erratum: Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle

scientific article published on 28 March 2017

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

scientific article published in March 2010

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

scientific article published on 26 May 2016

FUBP1: a new protagonist in splicing regulation of the DMD gene

scientific article

First molecular screening of deafness in the Altai Republic population

scientific article

Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation

scientific article published on 17 August 2011

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

scientific article published on 16 December 2015

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

scientific article published in June 2009

Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin

scientific article published on 11 December 2016

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations

scientific article published in January 2006

Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome ⬇️

scientific article published on April 29, 2011

Heterozygous TGFBR2 mutations in Marfan syndrome

scientific article

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome

scientific article

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

scientific article

Hydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units

scientific article

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

article

Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay

scientific article

Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene ⬇️

scientific article published on March 29, 2012

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

scientific article

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

scientific article

Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies

scientific article

Lack of Evidence for Connexin 43 Gene Mutations in Human Autosomal Recessive Lateralization Defects

article

Large genomic rearrangements in the CFTR gene contribute to CBAVD.

scientific article published on 20 April 2007

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

scientific article

Lethal factor VII deficiency due to novel mutations in the F7 promoter: Functional analysis reveals disruption of HNF4 binding site ⬇️

scientific article published on May 25, 2012

Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study

scientific article published in February 2010

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

scientific article

Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

scientific article published in January 2010

Molecular epidemiology of DFNB1 deafness in France

scientific article

Molecular pathology of the CFTR locus in male infertility

scientific article

Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

scientific article published on 16 April 2009

Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology

scientific article published on 10 February 2018

Mutation (variation) databases and registries: a rationale for coordination of efforts

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

scientific article published on 8 September 2014

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies

scientific article

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease

scientific article

NF-E2-related factor 2, a key inducer of antioxidant defenses, negatively regulates the CFTR transcription

scientific article published on 23 March 2010

Nasal epithelial cells: a tool to study DNA methylation in airway diseases

scientific article

New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

scientific article

Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control

scientific article published in February 2015

Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports

scientific article published on March 2004

Normal and altered pre-mRNA processing in the DMD gene

scientific article

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

scientific article

Phosphorylated C/EBPβ Influences a Complex Network Involving YY1 and USF2 in Lung Epithelial Cells ⬇️

scientific article published on January 1, 2013

Planning the human variome project: the Spain report.

scientific article published in April 2009

Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year

scientific article published in March 2011

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy

scientific article published in June 2003

Rapid detection of the deltaF508 mutation in single cells using DHPLC: implications for preimplantation genetic diagnosis

scientific article

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

scientific article published on 14 August 2013

Recommendations of the 2006 Human Variome Project meeting

scientific article published in April 2007

SSCP analysis: A blind sensitivity trial

scientific article published on 01 January 1997

Screening for cystic fibrosis mutations in Southern France: Identification of a frameshift mutation and two missense variations

scholarly article by Mireille Claustres et al published 1992 in Human Mutation

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing ⬇️

scientific article published on 08 August 2013

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites

scientific article published in September 2009

Should diffuse bronchiectasis still be considered a CFTR-related disorder?

scientific article

Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis

scientific article

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

article

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle

scientific article published on 3 January 2017

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations

scientific article

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

scientific article published on 26 August 2013

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

scientific article

The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations

scientific article published on 22 June 2007

The p.Asp216His TOR1A allele effect is not found in the French population

scientific article published in April 2009

Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital service

scientific article published on 22 November 2017

Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases

scientific article

Towards a European consensus for reporting incidental findings during clinical NGS testing

scientific article published on 3 June 2015

Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis

scientific article published on 03 September 2014

UMD (Universal Mutation Database): 2005 update

scientific article

UMD-CFTR: a database dedicated to CF and CFTR-related disorders

scientific article published in September 2010

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

scientific article

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

scientific article published in June 2009

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy

scientific article published on 16 November 2011

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

scientific article

WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient

scientific article published on 02 October 2008

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

scientific article published on 2 November 2015

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

scientific article

List of works by Mireille Claustres

A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).

A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo

A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene

A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants

A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

Assessment of the latest NGS enrichment capture methods in clinical context

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Association of bone morphogenetic proteins with otosclerosis

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations

CFTR genotypes in patients with normal or borderline sweat chloride levels

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

Cardiovascular manifestations in men and women carrying a FBN1 mutation

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy

Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene

Current and future molecular approaches in the diagnosis of cystic fibrosis

Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene

Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia

Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results

Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots

Erratum: Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

FUBP1: a new protagonist in splicing regulation of the DMD gene

First molecular screening of deafness in the Altai Republic population

Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations

Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome ⬇️

Heterozygous TGFBR2 mutations in Marfan syndrome

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Hydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay

Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene ⬇️

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies

Lack of Evidence for Connexin 43 Gene Mutations in Human Autosomal Recessive Lateralization Defects

Large genomic rearrangements in the CFTR gene contribute to CBAVD.

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

Lethal factor VII deficiency due to novel mutations in the F7 promoter: Functional analysis reveals disruption of HNF4 binding site ⬇️

Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

Molecular epidemiology of DFNB1 deafness in France

Molecular pathology of the CFTR locus in male infertility

Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology

Mutation (variation) databases and registries: a rationale for coordination of efforts

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease

NF-E2-related factor 2, a key inducer of antioxidant defenses, negatively regulates the CFTR transcription

Nasal epithelial cells: a tool to study DNA methylation in airway diseases

New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control

Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports

Normal and altered pre-mRNA processing in the DMD gene

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Phosphorylated C/EBPβ Influences a Complex Network Involving YY1 and USF2 in Lung Epithelial Cells ⬇️

Planning the human variome project: the Spain report.

Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year