Véronique DAVID

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Responsable d’Équipe

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Campus de Villejean / Bâtiment 4 / Pièce 207

 

En quelques mots

Publications majeures

  • Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders. Beaumont M, Akloul L, Carré W, Quélin C, Journel H, Pasquier L, Fradin M, Odent S, Hamdi-Rozé H, Watrin E, Dupé V, Dubourg C and David V. Human Genetics. 2019 Jan.

    Integrated Clinical and Omics Approach to Rare Diseases : Novel Genes and Oligogenic Inheritance in Holoprosencephaly. Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Le Douce J, Frex Consortium, GoNL Consortium, Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute 0, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Brain. 2019 Jan.

    Recent advances in understanding inheritance of holoprosencephaly. Dubourg C, Kim A, Watrin E, de Tayrac M, Odent S, David V, Dupé V. Am J Med Genet. C. 2018 May.

    A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity. Dykes IM, Szumska D, Kuncheria L, Puliyadi R, Chen CM, Papanayotou C, Lockstone H, Dubourg C, David V, Schneider JE, Keane TM, Adams DJ, Brown SDM, Mercier S, Odent S, Collignon J, Bhattacharya S. Sci Rep. 2018 Jul.

    Du cyclope à la réalité, un nouveau regard sur la génétique de l'holoprosencéphalie. Dupé V, Dubourg C, de Tayrac M, David V. Médecine/Science. 2017 Nov.

    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.

    Identification of nine new RAI1truncating mutations in Smith-Magenis syndrome patients without 17p11.2 deletions.
    Dubourg C, Bonnet-Brilhault F, Toutain A, Mignot C, Jacquette A, Dieux A, Gérard-Banluet M, Beaumont-Epinette M, Julia S, Isidor B, Rossi M, Odent S, Bendavid C, Barthélémy C, Verloes A, David V.
    Mol Syndromol. 2014 Feb.

    Array-CGH analysis suggests genetic heterogeneity in Rhombencephalosynapsis.
    Démurger F, Pasquier L, Dubourg C, Dupé V, Gicquel I, Evain C, Ratié L, Jaillard S, Beri M, Leheup B, Lespinasse J, Martin-Coignard D, Mercier S, Quelin C, Loget P, Marcorelles P, Laquerrière A, Bendavid C, Odent S, David V.
    Molecular Syndromology. 2013 Sep

    NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryo. 
    Mercier S, David V, Ratié L, Gicquel I, Odent S, Dupé V.
    Dis Model Mech. 2013 Mar.

    NOTCH, a new signaling pathway implicated in holoprosencephaly. 
    Dupé V, Rochard L, Mercier S, Le Pétillon Y, Gicquel I, Bendavid C, Bourrouillou G, Usha K, Thauvin-Robinet C, Bohan T, Odent S, Dubourg C, David V.
    Hum Mol Genet. 2011 Mar.

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