Véronique DAVID Group

Genetics of pathologies related to the Development (GPLD)

Véronique DAVID

Group leader

> Email: veronique.david@univ-rennes1.fr

> Phone: +33 (0)2 23 23 45 43

Holoprosencephaly (HPE) is the most common defect of the brain and face. This disease follow a complex inheritance pattern. We use exhaustive genome screening and developmental biology to identify novel HPE genes and study their function during brain formation. We thus contribute to improve genetic diagnosis and counselling of HPE.

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Major publications

Selected Publications

  • 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, Dubourg C, 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 Am J Med Genet. C. 2018 May.

    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.

    Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, Kaplan J, Katsanis N, Etchevers HC, Faguer S, Calvas P. Genome Res. 2016

    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.

    Notch signaling and proneural genes work together to control the neural building blocks for the initial scaffold in the hypothalamus.
    Ware M, Hamdi-Rozé H, Dupé V.
    Front Neuroanat. 2014 Dec.

    Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development.
    Ratié L, Ware M, Barloy-Hubler F, Romé H, Gicquel I, Dubourg C, David V, Dupé V.
    Neural Development. 2013 Dec.

    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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