List of works - Christelle Golzio

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

scientific article

Disruptive CHD8 mutations define a subtype of autism early in development

scientific article

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

scientific article

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

scientific article

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

scientific article (publication date: March 2009)

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

scientific article published on 25 June 2009

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

scientific article

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

scientific article

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

scientific article published on 11 April 2007

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

scientific article (publication date: April 2009)

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

scientific article published on 17 January 2013

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

scientific article published in May 2009

Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells

scientific article

Identification of cis-suppression of human disease mutations by comparative genomics

scientific article

In vivo modeling of the morbid human genome using Danio rerio

scientific article

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans

scientific article

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

scientific journal article

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

scientific article published on 17 October 2013

Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly

scientific article published on May 2015

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article

Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development

scientific article published on 05 December 2013

Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis

scientific article

Genetic architecture of reciprocal CNVs

scientific article published on 05 June 2013

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

scientific article

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

scientific article

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

scientific article

Endoglin interacts with VEGFR2 to promote angiogenesis.

scientific article published on 11 January 2018

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

scientific article

Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway

scientific article published on 5 October 2015

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

scientific article published on 27 September 2017

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

scientific article published on 17 July 2018

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions

scientific article published on 01 May 2019

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

scientific article published on 01 December 2006

A dominant vimentin variant causes a rare syndrome with premature aging

scientific article published on 17 February 2020

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

Mitochondrial Copy Number as a Biomarker for Autism?

scientific article published on 31 March 2016

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

article

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

scientific article

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

scientific article published on 25 November 2019

Regulation of autism-relevant behaviors by cerebellar-prefrontal cortical circuits

scientific article published on 13 July 2020

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

scientific article published on 15 May 2020

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

List of works by Christelle Golzio

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Disruptive CHD8 mutations define a subtype of autism early in development

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells

Identification of cis-suppression of human disease mutations by comparative genomics

In vivo modeling of the morbid human genome using Danio rerio

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development

Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis

Genetic architecture of reciprocal CNVs

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

Endoglin interacts with VEGFR2 to promote angiogenesis.

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

A dominant vimentin variant causes a rare syndrome with premature aging

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Mitochondrial Copy Number as a Biomarker for Autism?

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

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

Regulation of autism-relevant behaviors by cerebellar-prefrontal cortical circuits

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

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