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Sophie Thomas
Researcher at Paris Descartes University
Publications - 52
Citations - 3322
Sophie Thomas is an academic researcher from Paris Descartes University. The author has contributed to research in topics: Cilium & Ciliopathies. The author has an hindex of 24, co-authored 50 publications receiving 2816 citations. Previous affiliations of Sophie Thomas include Necker-Enfants Malades Hospital & University of Paris.
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Journal ArticleDOI
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
Sabina Benko,J. Fantes,Jeanne Amiel,Dirk-Jan Kleinjan,Sophie Thomas,Jacqueline Ramsay,Negar Jamshidi,Abdelkader Essafi,Simon Heaney,Christopher T. Gordon,David McBride,Christelle Golzio,Malcolm E. Fisher,Paul Perry,Véronique Abadie,Véronique Abadie,Carmen Ayuso,Muriel Holder-Espinasse,Nicky Kilpatrick,Melissa Lees,Arnaud Picard,I. Karen Temple,Paul Q. Thomas,M.-P. Vazquez,Michel Vekemans,Michel Vekemans,Hugues Roest Crollius,Nicholas D. Hastie,Arnold Munnich,Arnold Munnich,Heather C. Etchevers,Anna Pelet,Peter G. Farlie,David R. FitzPatrick,Stanislas Lyonnet,Stanislas Lyonnet +35 more
TL;DR: Several lines of evidence for the existence of a 17q24 locus underlying Pierre Robin sequence are reported, including linkage analysis results, a clustering of translocation breakpoints, and a heterozygous point mutation in an evolutionarily conserved region of DNA with in vitro and in vivo features of a developmental enhancer.
Journal ArticleDOI
Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries
Valentina Boeva,Valentina Boeva,Caroline Louis-Brennetot,Agathe Peltier,Simon Durand,Cécile Pierre-Eugène,Virginie Raynal,Virginie Raynal,Heather C. Etchevers,Sophie Thomas,Alban Lermine,Estelle Daudigeos-Dubus,Birgit Geoerger,Martin F. Orth,Thomas G. P. Grunewald,Elise Diaz,Elise Diaz,Bertrand Ducos,Bertrand Ducos,Bertrand Ducos,Didier Surdez,Angel M. Carcaboso,Irina V. Medvedeva,Thomas Deller,Valérie Combaret,Eve Lapouble,Gaëlle Pierron,Sandrine Grossetête-Lalami,Sylvain Baulande,Gudrun Schleiermacher,Emmanuel Barillot,Hermann Rohrer,Olivier Delattre,Olivier Delattre,Isabelle Janoueix-Lerosey,Isabelle Janoueix-Lerosey +35 more
TL;DR: This work discovered three types of identity in neuroblastoma cell lines: a sympathetic noradrenergic identity, defined by a CRC module including the PHOX2B, HAND2 and GATA3 transcription factors (TFs); an NCC-like identity, driven by aRC module containing AP-1 TFs; and a mixed type, further deconvoluted at the single-cell level.
Journal ArticleDOI
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Enza Maria Valente,Clare V. Logan,Soumaya Mougou-Zerelli,Jeong Ho Lee,Jennifer L. Silhavy,Francesco Brancati,Francesco Brancati,Miriam Iannicelli,Lorena Travaglini,Sveva Romani,Barbara Illi,Matthew Adams,Katarzyna Szymanska,Annalisa Mazzotta,Ji Eun Lee,Jerlyn C Tolentino,Dominika Swistun,Carmelo Salpietro,Carmelo Fede,Stacey Gabriel,Carsten Russ,Kristian Cibulskis,Carrie Sougnez,Friedhelm Hildebrandt,Edgar A. Otto,Susanne Held,Bill H. Diplas,Erica E. Davis,Mario Mikula,Charles M. Strom,Bruria Ben-Zeev,Dorit Lev,Tally Lerman Sagie,Marina Michelson,Yuval Yaron,Amanda Krause,Eugen Boltshauser,Nadia Elkhartoufi,Joelle Roume,Stavit A. Shalev,Arnold Munnich,Sophie Saunier,Chris F. Inglehearn,Ali Saad,Adila Al-Kindy,Adila Al-Kindy,Sophie Thomas,Michel Vekemans,Bruno Dallapiccola,Nicholas Katsanis,Colin A. Johnson,Tania Attié-Bitach,Joseph G. Gleeson +52 more
TL;DR: It is reported that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein.
Journal ArticleDOI
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Audrey Putoux,Sophie Thomas,Karlien L.M. Coene,Erica E. Davis,Yasemin Alanay,Gönöl Ogur,Elif Uz,Daniela Buzas,Céline Gomes,Sophie Patrier,Christopher L. Bennett,Nadia Elkhartoufi,Marie Hélène Saint Frison,Luc Rigonnot,N. Joye,Solenn Pruvost,Gülen Eda Utine,Koray Boduroğlu,Patrick Nitschke,L. Fertitta,Christel Thauvin-Robinet,Arnold Munnich,Valérie Cormier-Daire,Raoul C.M. Hennekam,Estelle Colin,Nurten A. Akarsu,Christine Bole-Feysot,Nicolas Cagnard,Alain Schmitt,Nicolas Goudin,Stanislas Lyonnet,Férechté Encha-Razavi,Jean Pierre Siffroi,Mark Winey,Nicholas Katsanis,Marie Gonzales,Michel Vekemans,Philip L. Beales,Tania Attié-Bitach +38 more
TL;DR: In this article, the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies.
Journal ArticleDOI
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6
Christelle Golzio,Jelena Martinovic-Bouriel,Sophie Thomas,Soumaya Mougou-Zrelli,Bettina Grattagliano-Bessières,Maryse Bonnière,Sophie Delahaye,Arnold Munnich,Férechté Encha-Razavi,Stanislas Lyonnet,Michel Vekemans,Tania Attié-Bitach,Heather C. Etchevers +12 more
TL;DR: A molecular basis for the prenatal manifestations of Matthew-Wood syndrome is suggested and phenotypic overlap with other associations may be due to genetic heterogeneity of elements common to the RA- and fibroblast growth factor-signaling cascades.