The Team
  • Engineers & Technicians

    Marie-Christine FISCHER

Translational medicine and neurogenetics

Genetic basis of cognitive disorders

Publications

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  • IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

    Mignot C(1)(2), McMahon AC(3), Bar C(4)(5)(6), Campeau PM(7), Davidson C(3), Buratti J(8), Nava C(9)(8), Jacquemont ML(10), Tallot M(10), Milh M(11)(12), Edery P(13)(14)(15), Marzin P(8), Barcia G(5)(6)(16), Barnerias C(17), Besmond C(5)(6), Bienvenu T(18)(19), Bruel AL(20)(21), Brunga L(22), Ceulemans B(23), Coubes C(24), Cristancho AG(25), Cunningham F(3), Dehouck MB(26), Donner EJ(22), Duban-Bedu B(26), Dubourg C(27), Gardella E(28)(29), Gauthier J(7), Genevieve D(24)(30), Gobin-Limballe S(16), Goldberg EM(25), Hagebeuk E(31), Hamdan FF(7), Hancarova M(32), Hubert L(5)(6), Ioos C(33), Ichikawa S(34), Janssens S(35), Journel H(36), Kaminska A(37), Keren B(8), Koopmans M(38), Lacoste C(39), Lassuthova P(40), Lederer D(41), Lehalle D(20)(42), Marjanovic D(28), Metreau J(43), Michaud JL(7), Miller K(44), Minassian BA(22), Morales J(3), Moutard ML(45)(46), Munnich A(5)(6)(16), Ortiz-Gonzalez XR(25), Pinard JM(47), Prchalova D(32), Putoux A(13)(14)(15), Quelin C(48), Rosen AR(25), Roume J(49), Rossignol E(50), Simon MEH(38), Smol T(51), Shur N(44), Shelihan I(7), Sterbova K(40), Vyhnalkova E(32), Vilain C(52)(53)(54), Soblet J(52)(53)(54), Smits G(52)(53)(54), Yang SP(55), van der Smagt JJ(38), van Hasselt PM(56), van Kempen M(38), Weckhuysen S(57)(58), Helbig I(25), Villard L(12)(39), Heron D(8), Koeleman B(38), Mller RS(27)(28), Lesca G(13)(14)(15), Helbig KL(25), Nabbout R(4)(5)(6), Verbeek NE(38), Depienne C(59)(60)(61).

    Genet Med Apr 2019;21:837-849.

  • 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 Nov 2018;50:1574-1583.

Imprimer Envoyer

Université de Strasbourg
INSERM
CNRS

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