The Team
  • Researchers

    Christelle GOLZIO

  • Post-Doctoral Fellows

    Maria Nicla LOVIGLIO

  • PhD Students

    Camille BONNET

    Gaëlle HAYOT

  • Engineers & Technicians

    Chantal WEBER

Translational medicine and neurogenetics

Study of copy number variants in autism spectrum disorders and their comorbidities

Publications

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  • A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

    Migliavacca E(1), Golzio C(2), Männik K(3), Blumenthal I(4), Oh EC(2), Harewood L(5), Kosmicki JA(6), Loviglio MN(5), Giannuzzi G(5), Hippolyte L(7), Maillard AM(7), Alfaiz AA(1); 16p11.2 European Consortium, van Haelst MM(8), Andrieux J(9), Gusella JF(10), Daly MJ(6), Beckmann JS(11), Jacquemont S(7), Talkowski ME(10), Katsanis N(12), Reymond A(13).

    Am J Hum Genet May 7, 2015;96:784-96.

  • Disruptive CHD8 mutations define a subtype of autism early in development.

    Bernier R(1), Golzio C(2), Xiong B(3), Stessman HA(3), Coe BP(3), Penn O(3), Witherspoon K(3), Gerdts J(1), Baker C(3), Vulto-van Silfhout AT(4), Schuurs-Hoeijmakers JH(4), Fichera M(5), Bosco P(6), Buono S(6), Alberti A(6), Failla P(6), Peeters H(7), Steyaert J(8), Vissers LE(4), Francescatto L(2), Mefford HC(9), Rosenfeld JA(10), Bakken T(11), O'Roak BJ(12), Pawlus M(13), Moon R(14), Shendure J(3), Amaral DG(15), Lein E(11), Rankin J(16), Romano C(6), de Vries BB(4), Katsanis N(2), Eichler EE(17).

    Cell July 17, 2014;158:263-76.

Imprimer Envoyer

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