IGBMC : Institut de la Génétique et de la Biologie Moléculaire et Cellulaire

• Engineers & Technicians

  Marie-Christine FISCHER

Translational medicine and neurogenetics

Genetic basis of cognitive disorders

Publications

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• Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.

  Collins SC(1)(2)(3)(4)(5), Mikhaleva A(6), Vrcelj K(7), Vancollie VE(8), Wagner C(1)(2)(3)(4), Demeure N(1)(2)(3)(4), Whitley H(1)(2)(3)(4), Kannan M(1)(2)(3)(4), Balz R(6), Anthony LFE(8), Edwards A(9)(10), Moine H(1)(2)(3)(4), White JK(8), Adams DJ(8), Reymond A(6), Lelliott CJ(8), Webber C(7)(11), Yalcin B(12)(13)(14)(15)(16).

  Nat Commun Aug. 1, 2019;10:3465.

• 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.

• The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia.

  Collins SC(1)(2)(3)(4)(5), Uzquiano A(6)(7)(8), Selloum M(1)(2)(3)(4)(9), Wendling O(1)(2)(3)(4)(9), Gaborit M(1)(2)(3)(4), Osipenko M(1)(2)(3)(4), Birling MC(1)(2)(3)(4)(9), Yalcin B(1)(2)(3)(4), Francis F(6)(7)(8).

  J Anat June 7, 2019.

• TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.

  Ivanova EL(1)(2)(3)(4), Gilet JG(1)(2)(3)(4), Sulimenko V(5), Duchon A(1)(2)(3)(4), Rudolf G(1)(2)(3)(4), Runge K(1)(2)(3)(4), Collins SC(1)(2)(3)(4)(6), Asselin L(1)(2)(3)(4), Broix L(1)(2)(3)(4), Drouot N(1)(2)(3)(4), Tilly P(1)(2)(3)(4), Nusbaum P(7), Vincent A(1)(2)(4), Magnant W(1)(2)(4), Skory V(1)(2)(3)(4), Birling MC(8), Pavlovic G(8), Godin JD(1)(2)(3)(4), Yalcin B(1)(2)(3)(4), Herault Y(1)(2)(3)(4), Draber P(5), Chelly J(1)(2)(3)(4)(9)(10), Hinckelmann MV(11)(12)(13)(14).

  Nat Commun May 13, 2019;10:2129.

• A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

  Nixon KCJ(1), Rousseau J(2), Stone MH(3), Sarikahya M(4), Ehresmann S(2), Mizuno S(5), Matsumoto N(6), Miyake N(6); DDD Study, Baralle D(7), McKee S(8), Izumi K(9), Ritter AL(9), Heide S(10), Heron D(10), Depienne C(11), Titheradge H(12), Kramer JM(13), Campeau PM(14).

  Am J Hum Genet April 4, 2019;104:596-610.

• A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.

  Niazi R(1), Fanning EA(1), Depienne C(2)(3)(4), Sarmady M(1)(5), Abou Tayoun AN(6).

  Hum Mutat Mar 2019;40:243-257.

• 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.