The Team
  • Researchers

    Christelle GOLZIO

  • Post-Doctoral Fellows

    Maria Nicla LOVIGLIO

  • PhD Students

    Camille BONNET

    Gaëlle HAYOT

  • Engineers & Technicians

    Théa BEGEL

    Chantal WEBER

Translational medicine and neurogenetics

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

Publications

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  • Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

    Frints SGM(1)(2), Ozanturk A(3), Rodriguez Criado G(4), Grasshoff U(5), de Hoon B(6)(7), Field M(8), Manouvrier-Hanu S(9)(10), E Hickey S(11)(12), Kammoun M(13), Gripp KW(14), Bauer C(5), Schroeder C(5), Toutain A(15)(16), Mihalic Mosher T(11)(12)(17), Kelly BJ(17), White P(12)(17), Dufke A(5), Rentmeester E(6), Moon S(3), Koboldt DC(12)(17), van Roozendaal KEP(18)(19), Hu H(20), Haas SA(21), Ropers HH(20), Murray L(8), Haan E(22)(23), Shaw M(22), Carroll R(22), Friend K(24), Liebelt J(23), Hobson L(24), De Rademaeker M(25), Geraedts J(18)(19), Fryns JP(13), Vermeesch J(13), Raynaud M(15)(16), Riess O(5), Gribnau J(6), Katsanis N(3), Devriendt K(13), Bauer P(5), Gecz J(22)(26), Golzio C(3)(27), Gontan C(6), Kalscheuer VM(28).

    Mol Psychiatry May 4, 2018.

  • De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

    Kury S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denomme-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceno I, Gomez A, Nugent KM, Gibson JB, Cogne B, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bezieau S, Stankiewicz P, Isidor B.

    Am J Hum Genet April 6, 2017;100:689.

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