Christèle DUBOURG

Information

Véronique DAVID Group

+33 (0)2 99 28 98 29

Campus de Villejean / Bâtiment 4 / Pièce 207

 

Responsibilities

  • Responsible for the genetic diagnosis of holoprosencephaly in the laboratory of Molecular Genetics in the CHU of Rennes (analysis by targeted NGS);
  • In charge of the array CGH platform (CHU Rennes);
  • Responsible for the holoprosencephaly samples collection (more than 2400 specimens). This collection (2nd world cohort) is one of the founder projects of the “Centre de Ressources Biologiques - Santé (CRB-Santé)” of Rennes

Education

  • PACES - DFGSM2- DFGSM3: tutorials (TD: 50h / year), lectures (CM: 5h / year)
  • Master 1: Responsible for the UE13 "Human Molecular Genetics" - CM (14h / year), TD (6 hours / year)
  • Master 2 SCMV: CM (3 hours / year), co-supervision (3 students in the last five years)
  • University Thesis: Co -supervision (2 students in the last five years)
  • DES in Medical Biology: CM (10h / year), TD (6 hours / year), coaching (internes)
  • DES Genetics: coaching (internes)
  • IFSI: CM (2 hours / year)

Shared responsibilities

  • Analysis and interpretation of NGS studies in consanguineous families and in trios with a mutation inherited from an asymptomatic parent or without mutation

Major publications

  • Mutational Spectrum in Holoprosencephaly Shows That Fgf is a New Major Signaling Pathway. 
    Dubourg C, Carré W, Hamdi-Rozé H, Mouden C, Roume J, Abdelmajid B, Amram D, Baumann C, Chassaing N, Coubes C, Faivre-Olivier L, Ginglinger E, Gonzales M, Levy-Mozziconacci A, Lynch SA, Naudion S, Pasquier L, Poidvin A, Prieur F, Sarda P, Toutain A, Dupé V, Akloul L, Odent S, de Tayrac M, David V. Hum. Mutat. 2016 Jul.

    Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
    Mouden C, Dubourg C, Carré W, Rose S, Quelin c, Akloul L, Viot G, Salhi H, Darnault P, Odent S, Dupé V, David V. Clin. Genet. 2016 Jan.

    Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings. 
    Mouden C, de Tayrac M, Dubourg C, Rose S, Carré W, Hamdi-Rozé H, Akloul L, Héron B, Odent S, Dupé V, Giet R, David V. PLoS One. 2015 Feb.

    New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
    Mercier S, Dubourg C, Garcelon N, Campillo-Gimenez B, Gicquel I, Belleguic M, Ratié L, Pasquier L, Loget P, Bendavid C, Jaillard S, Rochard L , Quélin C, Sinteff J-P, Dupé V, David V and Odent S. J Med Genet. 2011 Nov.

    Mirror extreme BMI phenotypes associated with gene dosage at the 16p11.2 locus. Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P. Nature 2011 Aug.

    5q12. 1 deletion: delineation of a phenotype including mental retardation and ocular defects.
    Jaillard S, Andrieux J, Plessis G, Krepischi AC, Lucas J, David V, Le Brun M, Bertola DR, David A, Belaud-Rotureau MA, Mosser J, Lazaro L, Treguier C, Rosenberg C, Odent S, Dubourg C. Am J Med Genet A. 2011 Apr.

    Clinical utility gene card for: Holoprosencephaly.
    Dubourg C, David V, Gropman A, Mercier S, Muenke M, Odent S, Pineda-Alvarez DE, Roessler E. Eur J Hum Genet. 2011 Jan.

    Genetic counseling and “molecular” prenatal diagnosis of holoprosencephaly (HPE). Mercier S, Dubourg C, Belleguic M, Pasquier L, Loget P, Lucas J, Bendavid C, Odent S. Am J Med Genet C. 2010 Feb.

    Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Pineda-Alvarez DE, Dubourg C, David V, Roessler E, Muenke M. Am J Med Genet C. 2010 Feb.

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