The Team
  • 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

  • Trainee

    Meriam HADJ AMOR

Translational medicine and neurogenetics

Genetics and pathophysiology of neurodevelopmental and Epileptogenic Disorders

Publications

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  • Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.

    Quartier A(1)(2)(3)(4), Courraud J(1)(2)(3)(4), Thi Ha T(5)(6), McGillivray G(7), Isidor B(8), Rose K(9), Drouot N(1)(2)(3)(4), Savidan MA(1)(2)(3)(4), Feger C(10), Jagline H(1)(2)(3)(4), Chelly J(1)(2)(3)(4)(10), Shaw M(2), Laumonnier F(11)(12), Gecz J(5)(6), Mandel JL(1)(2)(3)(4)(13), Piton A(1)(2)(3)(4)(10).

    Hum Mutat June 10, 2019.

  • ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

    Carapito R(1), Ivanova EL(2), Morlon A(3), Meng L(4), Molitor A(5), Erdmann E(2), Kieffer B(2), Pichot A(5), Naegely L(5), Kolmer A(5), Paul N(5), Hanauer A(5), Tran Mau-Them F(6), Jean-Marcais N(6), Hiatt SM(7), Cooper GM(7), Tvrdik T(8), Muir AM(9), Dimartino C(10), Chopra M(11), Amiel J(12), Gordon CT(10), Dutreux F(5), Garde A(6), Thauvin-Robinet C(6), Wang X(4), Leduc MS(4), Phillips M(13), Crawford HP(13), Kukolich MK(13), Hunt D(14), Harrison V(14), Kharbanda M(14); Deciphering Developmental Disorders Study(15); University of Washington Center for Mendelian Genomics, Smigiel R(16), Gold N(17), Hung CY(17), Viskochil DH(18), Dugan SL(18), Bayrak-Toydemir P(19), Joly-Helas G(20), Guerrot AM(20), Schluth-Bolard C(21), Rio M(22), Wentzensen IM(23), McWalter K(23), Schnur RE(23), Lewis AM(24), Lalani SR(24), Mensah-Bonsu N(25), Ceraline J(26), Sun Z(27), Ploski R(28), Bacino CA(24), Mefford HC(9), Faivre L(6), Bodamer O(29), Chelly J(30), Isidor B(31), Bahram S(32).

    Am J Hum Genet Dec. 26, 2018.

  • GRIN2A-related disorders: genotype and functional consequence predict phenotype.

    Strehlow V(1), Heyne HO(1)(2)(3), Vlaskamp DRM(4)(5), Marwick KFM(6), Rudolf G(7)(8)(9)(10), de Bellescize J(11), Biskup S(12), Brilstra EH(13), Brouwer OF(4), Callenbach PMC(4), Hentschel J(1), Hirsch E(8)(9)(10)(14), Kind PC(6)(15)(16), Mignot C(17)(18)(19), Platzer K(1), Rump P(5), Skehel PA(6), Wyllie DJA(6)(15)(16); GRIN2A study group, Hardingham GE(6)(15)(20), van Ravenswaaij-Arts CMA(5), Lesca G(21)(22)(23), Lemke JR(1).

    Brain Dec. 12, 2018.

  • Further refinement of COL4A1 and COL4A2 related cortical malformations.

    Cavallin M(1), Mine M(2), Philbert M(1), Boddaert N(3), Lepage JM(4), Coste T(2), Lopez-Gonzalez V(5), Sanchez-Soler MJ(5), Ballesta-Martinez MJ(5), Remerand G(6), Pasquier L(7), Guet A(8), Chelly J(9), Lascelles K(10), Prieto-Morin C(2), Kossorotoff M(11), Tournier Lasserve E(2), Bahi-Buisson N(12).

    Eur J Med Genet Oct. 10, 2018.

Imprimer Envoyer

Université de Strasbourg
INSERM
CNRS

IGBMC - CNRS UMR 7104 - Inserm U 1258
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