L'équipe
  • Chercheurs

    Jamel CHELLY

    Anne DE SAINT-MARTIN

    Edouard Franck HIRSCH

    Béatrice LANNES

    Jean-Louis MANDEL

    Hervé MOINE

    Amélie PITON

  • Post-Doctorants

    Florent COLIN

    Maria Victoria HINCKELMANN RIVAS

  • Doctorants

    Jérémie COURRAUD

    Johan GILET

    Karima HABBAS

    Ekaterina IVANOVA

    Francesca MATTIOLI

  • Ingénieurs & Techniciens

    Nathalie DROUOT

    Eric FLATTER

    Timothée MAZZUCOTELLI

    Gabrielle RUDOLF

    Valérie SKORY

  • Stagiaire

    Marie-Thérèse ABI WARDE

    Meriam HADJ AMOR

Médecine translationnelle et neurogénétique

Génétique et physiopathologie de maladies neurodéveloppementales et épileptogènes

Publications

Imprimer la liste complète

  • Defining the phenotypic spectrum of SLC6A1 mutations.

    Johannesen KM(1)(2), Gardella E(1)(2), Linnankivi T(3), Courage C(4)(5), de Saint Martin A(6)(7), Lehesjoki AE(4)(5), Mignot C(8), Afenjar A(9), Lesca G(10)(11)(12), Abi-Warde MT(6)(7), Chelly J(13)(14), Piton A(13)(14), Merritt JL 2nd(15), Rodan LH(16)(17), Tan WH(16)(17), Bird LM(18), Nespeca M(19), Gleeson JG(20), Yoo Y(21), Choi M(21), Chae JH(22), Czapansky-Beilman D(23), Reichert SC(24), Pendziwiat M(25), Verhoeven JS(26), Schelhaas HJ(26), Devinsky O(27), Christensen J(28), Specchio N(29), Trivisano M(29), Weber YG(30), Nava C(31)(32), Keren B(31)(32), Doummar D(33), Schaefer E(34), Hopkins S(35), Dubbs H(36), Shaw JE(36), Pisani L(36), Myers CT(15), Tang S(37), Tang S(38), Pal DK(38), Millichap JJ(39)(40), Carvill GL(40), Helbig KL(37), Mecarelli O(41), Striano P(42), Helbig I(25)(35), Rubboli G(1)(43), Mefford HC(15), Mller RS(1)(2).

    Epilepsia 8 janvier 2018.

  • KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

    Gueneau L(1), Fish RJ(2), Shamseldin HE(3), Voisin N(1), Tran Mau-Them F(4), Preiksaitiene E(5), Monroe GR(6), Lai A(7), Putoux A(8), Allias F(9), Ambusaidi Q(10), Ambrozaityte L(5), Cimbalistiene L(5), Delafontaine J(11), Guex N(11), Hashem M(3), Kurdi W(10), Jamuar SS(12), Ying LJ(13), Bonnard C(14), Pippucci T(15), Pradervand S(16), Roechert B(11), van Hasselt PM(6), Wiederkehr M(1), Wright CF(17); DDD Study, Xenarios I(16), van Haaften G(6), Shaw-Smith C(18), Schindewolf EM(19), Neerman-Arbez M(2), Sanlaville D(8), Lesca G(8), Guibaud L(20), Reversade B(21), Chelly J(4), Kucinskas V(5), Alkuraya FS(22), Reymond A(23).

    Am J Hum Genet 4 janvier 2018;102:116-132.

  • DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

    Marsh APL(1)(2), Edwards TJ(3)(4), Galea C(5), Cooper HM(3), Engle EC(6)(7)(8)(9)(10)(11), Jamuar SS(6)(7)(8)(12)(13), Meneret A(14)(15), Moutard ML(16)(17)(18), Nava C(14)(19), Rastetter A(14), Robinson G(20), Rouleau G(21)(22), Roze E(14)(15), Spencer-Smith M(23)(24), Trouillard O(14), Billette de Villemeur T(16)(17)(25)(26), Walsh CA(6)(7)(8)(9)(11)(12), Yu TW(6)(11)(12); IRC5 Consortium, Heron D(17)(19), Sherr EH(27), Richards LJ(3)(28), Depienne C(14)(19)(29)(30), Leventer RJ(2)(31)(32), Lockhart PJ(1)(2).

    Hum Mutat Jan 2018;39:23-39.

  • Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

    Niturad CE(1), Lev D(2)(3)(4), Kalscheuer VM(5)(6), Charzewska A(7), Schubert J(1)(8), Lerman-Sagie T(3)(4)(9), Kroes HY(10), Oegema R(10), Traverso M(11), Specchio N(12), Lassota M(13), Chelly J(14), Bennett-Back O(15), Carmi N(3)(4)(10), Koffler-Brill T(16), Iacomino M(11), Trivisano M(12), Capovilla G(17), Striano P(18), Nawara M(7), Rzonca S(7), Fischer U(5)(6), Bienek M(5), Jensen C(5), Hu H(5), Thiele H(19), Altmuller J(19)(20), Krause R(8), May P(8), Becker F(1); EuroEPINOMICS Consortium, Balling R(8), Biskup S(21), Haas SA(22), Nurnberg P(19), van Gassen KLI(10), Lerche H(1), Zara F(11), Maljevic S(1), Leshinsky-Silver E(2)(3)(16).

    Brain 1 novembre 2017;140:2879-2894.

  • De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

    Kury S(1), van Woerden GM(2), Besnard T(3), Proietti Onori M(2), Latypova X(3), Towne MC(4), Cho MT(5), Prescott TE(6), Ploeg MA(2), Sanders S(7), Stessman HAF(8), Pujol A(9), Distel B(10), Robak LA(11), Bernstein JA(12), Denomme-Pichon AS(13), Lesca G(14), Sellars EA(15), Berg J(16), Carre W(17), Busk L(6), van Bon BWM(18), Waugh JL(19), Deardorff M(20), Hoganson GE(21), Bosanko KB(15), Johnson DS(22), Dabir T(23), Holla L(6), Sarkar A(24), Tveten K(6), de Bellescize J(25), Braathen GJ(6), Terhal PA(26), Grange DK(27), van Haeringen A(28), Lam C(29), Mirzaa G(30), Burton J(21), Bhoj EJ(31), Douglas J(32), Santani AB(33), Nesbitt AI(34), Helbig KL(35), Andrews MV(27), Begtrup A(5), Tang S(36), van Gassen KLI(26), Juusola J(5), Foss K(37), Enns GM(12), Moog U(38), Hinderhofer K(38), Paramasivam N(39), Lincoln S(32), Kusako BH(32), Lindenbaum P(40), Charpentier E(40), Nowak CB(32), Cherot E(17), Simonet T(25), Ruivenkamp CAL(28), Hahn S(29), Brownstein CA(4), Xia F(41), Schmitt S(3), Deb W(3), Bonneau D(13), Nizon M(3), Quinquis D(3), Chelly J(42), Rudolf G(43), Sanlaville D(14), Parent P(44), Gilbert-Dussardier B(45), Toutain A(46), Sutton VR(47), Thies J(48), Peart-Vissers LELM(18), Boisseau P(3), Vincent M(3), Grabrucker AM(49), Dubourg C(17); Undiagnosed Diseases Network, Tan WH(32), Verbeek NE(26), Granzow M(38), Santen GWE(28), Shendure J(50), Isidor B(3), Pasquier L(51), Redon R(40), Yang Y(41), State MW(7), Kleefstra T(18), Cogne B(3); GEM HUGO(52); Deciphering Developmental Disorders Study(53), Petrovski S(54), Retterer K(5), Eichler EE(50), Rosenfeld JA(11), Agrawal PB(55), Bezieau S(56), Odent S(51), Elgersma Y(57), Mercier S(3).

    Am J Hum Genet 2 novembre 2017;101:768-788.

  • Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.

    Broix L(1)(2)(3)(4)(5), Asselin L(1)(2)(3)(4), Silva CG(6), Ivanova EL(1)(2)(3)(4), Tilly P(1)(2)(3)(4), Gilet JG(1)(2)(3)(4), Lebrun N(5), Jagline H(1)(2)(3)(4), Muraca G(5), Saillour Y(5), Drouot N(1)(2)(3)(4), Reilly ML(7)(8)(9), Francis F(10)(11)(12), Benmerah A(8)(9), Bahi-Buisson N(7)(8), Belvindrah R(10)(11)(12), Nguyen L(6), Godin JD(1)(2)(3)(4), Chelly J(1)(2)(3)(4)(13), Hinckelmann MV(1)(2)(3)(4).

    Hum Mol Genet 25 octobre 2017.

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