List of works - Christel Thauvin-Robinet

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

scientific article

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

scientific article published on 30 March 2011

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

scientific article

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

scientific article

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

scientific article published on 25 June 2015

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

scientific article

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

scientific article published on 23 September 2015

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

scientific article

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

scientific article

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

scientific article published on 03 June 2016

Angelman syndrome: a case series assessing neurological issues in adulthood

scientific article published on 29 November 2014

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

scientific article published on 27 September 2020

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

scientific article published on 20 December 2016

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

scientific article published on November 2013

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

scientific article

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

scientific article

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

scientific article published on 2 November 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.

scientific article published on 27 September 2017

Cohen syndrome is associated with major glycosylation defects

scientific article

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

scientific article published on 8 March 2017

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

scientific article published on 04 October 2013

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

scientific article published on 31 January 2020

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

scientific article published on 26 August 2019

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

scientific article

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

scientific article published on 21 March 2013

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

scientific article

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

scientific article

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

scientific article published on 20 April 2016

Expanding the clinical phenotype of patients with a ZDHHC9 mutation

scientific article

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

scientific article published on 13 March 2017

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

scientific article published on March 2, 2012

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

scientific article published on 11 April 2020

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

scientific article published in 2022

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

scientific article published on February 2009

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

scientific article published on 30 July 2020

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

scientific article published on 21 October 2015

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

scientific article

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

scientific article published on 10 September 2015

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

scientific article published on 8 February 2017

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

scientific article

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

scientific article

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

scientific article published on 01 October 2010

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

scientific article

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

scientific article published on 2 February 2017

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

scientific article

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.

scientific article published in July 2009

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

scientific article

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

scientific article (publication date: February 2003)

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

scientific article published on 9 November 2016

NOTCH, a new signaling pathway implicated in holoprosencephaly.

scientific article

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

scientific article

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.

scientific article published on 7 December 2015

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

scientific article published on 25 October 2016

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

scientific article published on 27 June 2013

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

scientific article published on 11 August 2017

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 ⬇️

scientific article published on November 28, 2011

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

scientific article

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

scientific article published on 24 January 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

scientific article published on August 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

scientific article published on 12 May 2020

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

scientific article published on 07 March 2019

Severe X-linked chondrodysplasia punctata in nine new female fetuses

scientific article published on 30 March 2015

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

scientific article published on 01 February 2008

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

scientific article published on 28 March 2013

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

scientific article published on 27 December 2020

TCTN3 mutations cause Mohr-Majewski syndrome

scientific article

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

scientific article (publication date: 17 October 2012)

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

scientific article published on 25 October 2012

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

scientific article published on 09 May 2016

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

scientific article

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

scientific article

Update on oral-facial-digital syndromes (OFDS)

scientific article

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

scientific article published on 3 May 2016

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

scientific article

List of works by 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.