List of works - Christopher T Gordon

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

scientific article

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome

scientific article

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

scientific article

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis

scientific article published on 19 April 2019

A review of craniofacial disorders caused by spliceosomal defects

scientific article published on 11 April 2015

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

scientific article published on 3 September 2014

Altered SOX9 genital tubercle enhancer region in hypospadias

scientific article published on 28 October 2016

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

scientific journal article

C/EBPdelta and C/EBPgamma bind the CCAAT-box in the human beta-globin promoter and modulate the activity of the CACC-box binding protein, EKLF

scientific article

CXCL14 expression during chick embryonic development

scientific article published in January 2011

Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence

scientific article published on 11 August 2011

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.

scientific article published on 26 March 2014

Congenital heart defects in patients with deletions upstream of SOX9.

scientific article published on 18 October 2013

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

scientific article published on 27 December 2018

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

scientific journal article

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

scientific article

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

scientific article

Developmental perspectives on copy number abnormalities of the 22q11.2 region.

scientific article published on 23 April 2010

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

scientific article

Disruption of long‐distance highly conserved noncoding elements in neurocristopathies ⬇️

scientific article published on December 1, 2010

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

scientific article published on December 2012

EFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion-Almeida type

scientific article published on 25 April 2020

Efficiency of prenatal diagnosis in Pierre Robin sequence.

scientific article

Enhancer mutations and phenotype modularity

scientific article published in January 2014

Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish

scientific article published on June 2015

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations

article

Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease

scientific journal article

Germline gain-of-function mutations of ALK disrupt central nervous system development

scientific article published in March 2011

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

scientific article published on 12 January 2013

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism

scientific article published on 01 November 2018

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

scientific article (publication date: March 2009)

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

scientific article

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

scientific article published on 05 February 2021

Long-range regulation at the SOX9 locus in development and disease

scientific article published on 26 May 2009

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence

scientific article published on 21 November 2017

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

scientific journal article

Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children

scientific article published on 29 January 2018

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

Mutations in KCTD1 cause scalp-ear-nipple syndrome

scientific article

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

scientific article

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

scientific article published on 6 March 2017

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

scientific article

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

scientific article published in May 2018

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

scientific article

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

scientific article published on 07 May 2020

Phenotypic variability of distal 22q11.2 copy number abnormalities

article

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

scientific article published on 12 January 2018

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

scientific article published on 23 March 2016

Role of Dlx genes in craniofacial morphogenesis: Dlx2 influences skeletal patterning by inducing ectomesenchymal aggregation in ovo.

scientific article published in September 2010

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

scientific article published in Nature Communications

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

scientific article published on 01 April 2019

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

scientific article published in April 2017

The RCAS retroviral expression system in the study of skeletal development

scientific article published on April 2009

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

scientific article

Un gène codant une métalloprotéase impliqué dans l’hétérotaxie

article

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

scientific article

YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.

scientific article

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

scientific article published on 10 January 2019

bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1

scientific article

List of works by Christopher T Gordon

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis

A review of craniofacial disorders caused by spliceosomal defects

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Altered SOX9 genital tubercle enhancer region in hypospadias

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

C/EBPdelta and C/EBPgamma bind the CCAAT-box in the human beta-globin promoter and modulate the activity of the CACC-box binding protein, EKLF

CXCL14 expression during chick embryonic development

Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.

Congenital heart defects in patients with deletions upstream of SOX9.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

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

Developmental perspectives on copy number abnormalities of the 22q11.2 region.

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

Disruption of long‐distance highly conserved noncoding elements in neurocristopathies ⬇️

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

EFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion-Almeida type

Efficiency of prenatal diagnosis in Pierre Robin sequence.

Enhancer mutations and phenotype modularity

Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations

Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease

Germline gain-of-function mutations of ALK disrupt central nervous system development

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism

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

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Long-range regulation at the SOX9 locus in development and disease

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Mutations in KCTD1 cause scalp-ear-nipple syndrome

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

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

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Phenotypic variability of distal 22q11.2 copy number abnormalities

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

Role of Dlx genes in craniofacial morphogenesis: Dlx2 influences skeletal patterning by inducing ectomesenchymal aggregation in ovo.

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

The RCAS retroviral expression system in the study of skeletal development

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

Un gène codant une métalloprotéase impliqué dans l’hétérotaxie

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1