List of works - Sophie Thomas

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

scientific article published on January 2014

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

scientific article

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern

article

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice

scientific article published on 01 March 2019

BBS10 mutations are common in 'Meckel'-type cystic kidneys

scientific article published on 30 August 2010

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease

scientific article published on 01 August 2018

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

scientific article published on 12 May 2020

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

scientific article

Chromosome 21 KIR channels in brain development.

scientific article

Cilia in hereditary cerebral anomalies

scientific article published on 17 June 2019

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

scientific article

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

scientific article published on 01 December 2006

Developmental molecular and functional cerebellar alterations induced by PCP4/PEP19 overexpression: implications for Down syndrome.

scientific article published on 28 November 2013

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

scientific article

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

scientific article

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

scholarly article

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

scientific article

Fetal megacystis-microcolon: genetic mutational spectrum and identification of PDCL3 as a novel candidate gene

scientific article published on 03 July 2020

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

scientific article

Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.

scientific article published on 27 April 2007

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries.

scientific article

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

scientific article

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

scientific article (publication date: March 2009)

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

scientific article published on 08 August 2008

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

scientific article

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

scientific article

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

scientific article

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis

scientific article published on 27 April 2018

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

scientific article published on 11 April 2007

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

scientific article published on 31 August 2007

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

scientific article published on 9 July 2015

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

scientific article

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

scientific article

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

scientific article published on March 2017

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

scientific article

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

scientific article

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

scientific article

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

scientific article published in May 2018

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment ⬇️

scientific article published on October 4, 2012

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

scientific article published on 06 February 2013

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

scientific article

TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human

TCTN3 mutations cause Mohr-Majewski syndrome

scientific article

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

scientific article

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).

scientific article

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

scientific article published on October 2017

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1

scientific article published on 08 January 2018

List of works by Sophie Thomas

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice

BBS10 mutations are common in 'Meckel'-type cystic kidneys

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

Chromosome 21 KIR channels in brain development.

Cilia in hereditary cerebral anomalies

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

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

Developmental molecular and functional cerebellar alterations induced by PCP4/PEP19 overexpression: implications for Down syndrome.

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

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Fetal megacystis-microcolon: genetic mutational spectrum and identification of PDCL3 as a novel candidate gene

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries.

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

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

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis

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

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

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

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment ⬇️

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human

TCTN3 mutations cause Mohr-Majewski syndrome

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1