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

• 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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• 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 March 12, 2019.

• 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 Dec. 24, 2018.

• 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.

• Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.

  Marzin P(1), Mignot C(1), Dorison N(2), Dufour L(3), Ville D(4), Kaminska A(5), Panagiotakaki E(6), Dienpendaele AS(7), Penniello MJ(8), Nougues MC(9), Keren B(3), Depienne C(10), Nava C(11), Milh M(12), Villard L(13), Richelme C(14), Rivier C(15), Whalen S(16), Heron D(1), Lesca G(17), Doummar D(18).

  Brain Dev Oct 2018;40:768-774.

• Peripheral Delta Opioid Receptors Mediate Duloxetine Anti-allodynic Effect in a Mouse Model of Neuropathic Pain.

  Ceredig RA(1), Pierre F(1), Doridot S(2)(3), Alduntzin U(1), Salvat E(1)(3), Yalcin I(1), Gaveriaux-Ruff C(4), Barrot M(1), Massotte D(1)(5).

  Eur J Neurosci Sep 2018;48:2231-2246.