The Team
  • Researchers

    Christel DEPIENNE

    Binnaz YALCIN

  • PhD Students

    Perrine KRETZ

  • Engineers & Technicians

    Marie-Christine FISCHER

Translational medicine and neurogenetics

Genetic basis of cognitive disorders

Publications

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  • HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

    Marini C(1)(2), Porro A(3), Rastetter A(4), Dalle C(4), Rivolta I(5), Bauer D(6), Oegema R(7), Nava C(2)(4)(8), Parrini E(1), Mei D(1), Mercer C(9), Dhamija R(10), Chambers C(11), Coubes C(12), Thevenon J(13), Kuentz P(13)(14), Julia S(15), Pasquier L(16), Dubourg C(17), Carre W(17), Rosati A(1), Melani F(1), Pisano T(1), Giardino M(1), Innes AM(18), Alembik Y(19), Scheidecker S(19), Santos M(20), Figueiroa S(20), Garrido C(20), Fusco C(21), Frattini D(21), Spagnoli C(21), Binda A(5), Granata T(22), Ragona F(22), Freri E(22), Franceschetti S(22), Canafoglia L(22), Castellotti B(22), Gellera C(22), Milanesi R(23), Mancardi MM(24), Clark DR(25), Kok F(26), Helbig KL(27), Ichikawa S(28), Sadler L(29), Neupauerova J(30), Lassuthova P(30), Sterbova K(2)(30), Laridon A(31), Brilstra E(2)(7), Koeleman B(2)(7), Lemke JR(2)(32), Zara F(33), Striano P(2)(34), Soblet J(35)(36)(37), Smits G(35)(36)(37), Deconinck N(38), Barbuti A(23), DiFrancesco D(23), LeGuern E(2)(4)(8), Guerrini R(1)(2), Santoro B(39), Hamacher K(6), Thiel G(40), Moroni A(3), DiFrancesco JC(22)(41), Depienne C(2)(4)(42)(43).

    Brain Nov. 1, 2018;141:3160-3178.

  • Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.

    Lilue J(1)(2), Doran AG(1)(2), Fiddes IT(3), Abrudan M(2), Armstrong J(3), Bennett R(1), Chow W(2), Collins J(2), Collins S(4)(5), Czechanski A(6), Danecek P(2), Diekhans M(3), Dolle DD(2), Dunn M(2), Durbin R(2)(7), Earl D(3), Ferguson-Smith A(7), Flicek P(1)(2), Flint J(8), Frankish A(1)(2), Fu B(2), Gerstein M(9), Gilbert J(2), Goodstadt L(10), Harrow J(2), Howe K(2), Ibarra-Soria X(2), Kolmogorov M(11), Lelliott CJ(2), Logan DW(2), Loveland J(1)(2), Mathews CE(12), Mott R(13), Muir P(9), Nachtweide S(14), Navarro FCP(9), Odom DT(15)(16), Park N(2), Pelan S(2), Pham SK(17), Quail M(2), Reinholdt L(6), Romoth L(14), Shirley L(2), Sisu C(9)(18), Sjoberg-Herrera M(19), Stanke M(14), Steward C(2), Thomas M(2), Threadgold G(2), Thybert D(1)(20), Torrance J(2), Wong K(2), Wood J(2), Yalcin B(4), Yang F(2), Adams DJ(2), Paten B(3), Keane TM(21)(22)(23).

    Nat Genet Oct. 1, 2018.

  • 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.

Imprimer Envoyer

Université de Strasbourg
INSERM
CNRS

IGBMC - CNRS UMR 7104 - Inserm U 1258
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