Sophie Thomas

发表

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

A. Munnich, N. Boddaert, P. Beales, 2012, Journal of Medical Genetics.

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

A. Munnich, S. Lyonnet, M. Vekemans, 2007, American journal of human genetics.

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

R. Salomon, F. Silbermann, C. Antignac, 2016, PLoS genetics.

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

A. Munnich, A. Mégarbané, F. Clerget-Darpoux, 2015, American journal of human genetics.

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries

E. Barillot, D. Surdez, O. Delattre, 2017, Nature Genetics.

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

F. Chapon, A. Laquérriere, J. Chelly, 2017, Journal of neuropathology and experimental neurology.

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

J. Gilbert, S. Gregory, A. Ashley-Koch, 2012, Birth defects research. Part A, Clinical and molecular teratology.

A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

A. Munnich, J. Casanova, A. Abhyankar, 2014, Human mutation.

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

R. Hofstra, S. Lyonnet, D. Natarajan, 2021, Frontiers in Molecular Neuroscience.

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

A. Campbell, R. Hofstra, S. Lyonnet, 2021, bioRxiv.

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

P. Nitschké, M. Vekemans, T. Attié-Bitach, 2018, Birth defects research.

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

A. Munnich, P. Wincker, P. Xu, 2008, Human molecular genetics.

Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene

Y. Ville, C. Bole-Feysot, J. Rendu, 2020, Clinical genetics.

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

A. Munnich, N. Boddaert, S. Lisgo, 2014, European Journal of Human Genetics.

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

B. Durand, D. Baas, T. Attié-Bitach, 2018, Human molecular genetics.

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

Paul M. Jenkins, Colin A. Johnson, R. Gibbs, 2012, Nature Medicine.

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

M. Vekemans, C. Golzio, T. Attié-Bitach, 2006, Prenatal diagnosis.

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

A. Munnich, N. Boddaert, R. Salomon, 2009, Human mutation.

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

L. Pasquier, M. Fradin, T. Attié-Bitach, 2018, American journal of medical genetics. Part A.

TCTN3 mutations cause Mohr-Majewski syndrome.

Colin A. Johnson, A. Munnich, Y. Ville, 2012, American journal of human genetics.

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

E. Bertini, F. Brancati, E. Valente, 2010, Human mutation.

The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome

N. Winer, C. Bénéteau, P. Vaast, 2021, Clinical genetics.

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

A. Munnich, H. R. Crollius, D. McBride, 2009, Nature Genetics.

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

A. Munnich, A. Molven, O. Bruland, 2011, Journal of Medical Genetics.

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

A. Munnich, O. Delattre, A. Chompret, 2007, European journal of cancer.

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

N. Boddaert, A. Verloes, P. Nitschké, 2017, Brain : a journal of neurology.

Jcb: Article

A. Ashley-Koch, N. Katsanis, S. Saunier, 2022 .

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

A. Munnich, R. Hennekam, N. Katsanis, 2011, Nature Genetics.

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

N. Carter, A. Munnich, R. Hennekam, 2010, American journal of human genetics.

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Colin A. Johnson, S. Gabriel, N. Katsanis, 2012, Science.

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

G. Gyapay, A. Munnich, A. Laquérriere, 2010, Human mutation.

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

G. Mollet, O. Gribouval, F. Silbermann, 2014, Journal of the American Society of Nephrology : JASN.

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

Colin A. Johnson, K. Cibulskis, S. Gabriel, 2010, Nature Genetics.

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

Colin A. Johnson, S. Gabriel, E. Bertini, 2013, European Journal of Human Genetics.

deletionspalate in SMS is associated with larger CGH-array: Smith-Magenis Syndrome patients using Genotype-phenotype correlation of 30

S. Lyonnet, M. Vekemans, B. Delobel, 2007 .

BBS10 mutations are common in ‘Meckel’-type cystic kidneys

R. Salomon, M. Gubler, R. Bouvier, 2010, Journal of Medical Genetics.

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

Seneca L. Bessling, A. McCallion, A. Munnich, 2009, Proceedings of the National Academy of Sciences.

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

Y. Hérault, J. Bizot, M. Dierssen, 2014, Neurobiology of Disease.

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

H. Dollfus, Nicolas Goudin, T. Attié-Bitach, 2018, Human molecular genetics.

Cilia in hereditary cerebral anomalies

Alexandre Benmerah, Sophie Thomas, M. Reilly, 2019, Biology of the cell.

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla

P. Nitschké, F. Encha-Razavi, J. Amiel, 2023, Acta Neuropathologica Communications.

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

Y. Ville, P. Sonigo, M. Vekemans, 2016, Birth defects research. Part A, Clinical and molecular teratology.

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

Y. Ville, N. Boddaert, P. Nitschké, 2018, American journal of medical genetics. Part A.

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

N. Boddaert, A. Millischer, D. Moshous, 2017, American journal of medical genetics. Part A.

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

A. Ashley-Koch, N. Katsanis, S. Saunier, 2015, The Journal of cell biology.

JCB_201411087 1..14

A. Ashley-Koch, N. Katsanis, S. Saunier, 2015 .

321 Congenital heart defects in CHARGE syndrome patients with CHD7 mutations

S. Lyonnet, D. Bonnet, V. Abadie, 2010 .

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

N. Boddaert, R. Lifton, S. Saunier, 2015, Journal of Medical Genetics.

PCP4 (PEP19) overexpression induces premature neuronal differentiation associated with Ca2+/Calmodulin‐Dependent kinase II‐δ activation in mouse models of down syndrome

Y. Hérault, C. Verney, N. Créau, 2011, The Journal of comparative neurology.

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

P. Sonigo, A. Benachi, D. Lacombe, 2018, Birth defects research.

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

R. Hofstra, J. Christodoulou, C. Bole-Feysot, 2020, American journal of human genetics.

PCP4 is highly expressed in ectoderm and particularly in neuroectoderm derivatives during mouse embryogenesis.

C. Verney, C. Vayssettes, N. Créau, 2003, Gene expression patterns : GEP.

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development.

S. Saunier, Nicolas Goudin, N. Bahi-Buisson, 2022, Journal of visualized experiments : JoVE.

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries

E. Barillot, D. Surdez, O. Delattre, 2017, Nature Genetics.

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

E. Bertini, F. Brancati, E. Valente, 2010, Human mutation.