Lista de obras - Christel Thauvin-Robinet

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

artículo científico publicado en 2012

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome

artículo científico publicado en 2011

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

artículo científico publicado en 2013

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

artículo científico publicado en 2013

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

artículo científico publicado en 2015

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

artículo científico publicado en 2015

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

artículo científico publicado en 2015

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

artículo científico publicado en 2014

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

artículo científico publicado en 2009

A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome

artículo científico publicado en 2016

Angelman syndrome: a case series assessing neurological issues in adulthood

artículo científico publicado en 2014

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

artículo científico publicado en 2020

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

artículo científico publicado en 2016

C5orf42 is the major gene responsible for OFD syndrome type VI.

artículo científico publicado en 2013

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

artículo científico publicado en 2014

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

artículo científico publicado en 2012

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

artículo científico publicado en 2017

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

artículo científico publicado en 2017

Cohen syndrome is associated with major glycosylation defects

artículo científico publicado en 2013

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

artículo científico publicado en 2017

Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review

artículo científico

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

artículo científico publicado en 2020

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

artículo científico publicado en 2019

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

artículo científico publicado en 2014

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

artículo científico publicado en 2013

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

artículo científico publicado en 2011

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

artículo científico publicado en 2014

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

artículo científico publicado en 2016

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

artículo científico publicado en 2013

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

artículo científico publicado en 2017

Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa ⬇️

artículo científico publicado el 2 de marzo de 2012

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

artículo científico publicado en 2020

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

artículo científico publicado en 2022

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

artículo científico publicado en 2009

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

artículo científico publicado en 2020

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

artículo científico publicado en 2015

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

artículo científico publicado en 2012

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

artículo científico publicado en 2015

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

artículo científico publicado en 2017

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

artículo científico publicado en 2011

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

artículo científico publicado en 2014

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

artículo científico publicado en 2010

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

artículo científico publicado en 2016

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

artículo científico publicado en 2017

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy

artículo científico publicado en 2012

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

artículo científico publicado en 2009

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

artículo científico publicado en 2014

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

artículo científico publicado en 2003

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

artículo científico publicado en 2016

NOTCH, a new signaling pathway implicated in holoprosencephaly.

artículo científico publicado en 2010

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

artículo científico publicado en 2009

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

artículo científico publicado en 2015

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network

artículo científico publicado en 2016

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

artículo científico publicado en 2013

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

artículo científico

Retracted: Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability ⬇️

artículo científico publicado el 28 de noviembre de 2011

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

artículo científico publicado en 2011

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

artículo científico publicado en 2017

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in theOFD1gene

article

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

artículo científico publicado en 2010

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

artículo científico publicado en 2020

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

artículo científico publicado en 2019

Severe X-linked chondrodysplasia punctata in nine new female fetuses

artículo científico publicado en 2015

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene

artículo científico publicado en 2008

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

artículo científico publicado en 2013

Smith-Magenis syndrome (SMS): clinical and behavioral characteristics in a large retrospective cohort

artículo científico publicado en 2020

TCTN3 mutations cause Mohr-Majewski syndrome

artículo científico publicado en 2012

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome ⬇️

scientific journal article

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

artículo científico publicado en 2012

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

artículo científico publicado en 2012

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

artículo científico publicado en 2016

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

artículo científico publicado en 2014

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

scientific article published on 17 February 2011

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

artículo científico publicado en 2011

Update on oral-facial-digital syndromes (OFDS)

artículo científico publicado en 2016

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

artículo científico publicado en 2016

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

artículo científico publicado en 2017

Lista de obras de Christel Thauvin-Robinet

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome

Angelman syndrome: a case series assessing neurological issues in adulthood

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

C5orf42 is the major gene responsible for OFD syndrome type VI.

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Cohen syndrome is associated with major glycosylation defects

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa ⬇️

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

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

NOTCH, a new signaling pathway implicated in holoprosencephaly.

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Retracted: Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability ⬇️

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

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

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in theOFD1gene

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

Severe X-linked chondrodysplasia punctata in nine new female fetuses

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

Smith-Magenis syndrome (SMS): clinical and behavioral characteristics in a large retrospective cohort

TCTN3 mutations cause Mohr-Majewski syndrome

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome ⬇️

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Update on oral-facial-digital syndromes (OFDS)

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.