The Team
  • Trainee

    Meriam HADJ AMOR

  • Researchers

    Jamel CHELLY

    Anne DE SAINT-MARTIN

    Edouard Franck HIRSCH

    Béatrice LANNES

    Jean-Louis MANDEL

    Hervé MOINE

    Amélie PITON

  • Post-Doctoral Fellows

    Florent COLIN

    Maria Victoria HINCKELMANN RIVAS

  • PhD Students

    Jérémie COURRAUD

    Johan GILET

    Karima HABBAS-BERKIOUI

  • Engineers & Technicians

    Nathalie DROUOT

    Eric FLATTER

    Gabrielle RUDOLF

    Valérie SKORY

Translational medicine and neurogenetics

Genetics and pathophysiology of neurodevelopmental and Epileptogenic Disorders

Publications

Print the whole list

  • Increased diagnostic yield in complex dystonia through exome sequencing.

    Wirth T(1), Tranchant C(2), Drouot N(3), Keren B(4), Mignot C(5), Cif L(6), Lefaucheur R(7), Lion-François L(8), Méneret A(9), Gras D(10), Roze E(9), Laroche C(11), Burbaud P(12), Bannier S(13), Lagha-Boukbiza O(14), Spitz MA(15), Laugel V(15), Bereau M(16), Ollivier E(17), Nitschke P(17), Doummar D(18), Rudolf G(2), Anheim M(2), Chelly J(19).

    Parkinsonism Relat Disord April 20, 2020;74:50-56.

  • Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

    Barbosa S(1), Greville-Heygate S(2), Bonnet M(1), Godwin A(3), Fagotto-Kaufmann C(1), Kajava AV(1), Laouteouet D(1), Mawby R(4), Wai HA(4), Dingemans AJM(5), Hehir-Kwa J(6), Willems M(7), Capri Y(8), Mehta SG(9), Cox H(10), Goudie D(11), Vansenne F(12), Turnpenny P(13), Vincent M(14), Cogné B(14), Lesca G(15), Hertecant J(16), Rodriguez D(17), Keren B(18), Burglen L(19), Gérard M(20), Putoux A(21); C4RCD Research Group(22), Cantagrel V(23), Siquier-Pernet K(24), Rio M(24), Banka S(25), Sarkar A(26), Steeves M(27), Parker M(28), Clement E(29), Moutton S(30), Tran Mau-Them F(31), Piton A(32), de Vries BBA(5), Guille M(3), Debant A(1), Schmidt S(33), Baralle D(34).

    Am J Hum Genet March 5, 2020;106:338-355.

  • Conditional switching of KIF2A mutation provides new insights into cortical malformations pathogeny.

    Gilet J(1)(2)(3)(4), Ivanova E(1)(2)(3)(4), Trofimova D(3), Rudolf G(1)(2)(3)(4), Meziane H(4), Broix L(1)(2)(3)(4), Drouot N(1)(2)(3)(4), Courraud J(1)(2)(3)(4), Skory V(1)(2)(3)(4), Voulleminot P(5), Osipenko M(1)(2)(3)(4), Bahi-Buisson N(6), Yalcin B(1)(2)(3)(4), Birling MC(4), Hinckelmann MV(1)(2)(3)(4), Kwok BH(7)(8), Allingham JS(3), Chelly J(1)(2)(3)(4)(5)(9)(10).

    Hum Mol Genet Jan. 10, 2020.

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