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

• Chercheurs

  Stephan COLLINS

  Christel DEPIENNE

  Binnaz YALCIN

• Doctorants

  Perrine KRETZ

• Ingénieurs & Techniciens

  Emeline AGUILAR

  Marie-Christine FISCHER

  Christel WAGNER

• Stagiaire

  Ananya PATHAK

Médecine translationnelle et neurogénétique

Base génétique des maladies cognitives

Publications

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• Behavioural characterization of AnkyrinG deficient mice, a model for ANK3 related disorders.

  van der Werf IM(1), Van Dam D(2), Missault S(3), Yalcin B(4), De Deyn PP(5), Vandeweyer G(6), Kooy RF(7).

  Behav Brain Res 11 avril 2017;328:218-226.

• A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).

  Giorgio E(1), Vaula G(2), Benna P(3,)(4), Lo Buono N(5,)(6), Eandi CM(7), Dino D(8), Mancini C(1), Cavalieri S(9), Di Gregorio E(9), Pozzi E(1), Ferrero M(1), Giordana MT(2,)(3), Depienne C(10,)(11), Brusco A(1,)(9).

  J Neurol Neurosurg Psychiatry 4 mai 2017.

• GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

  Platzer K(1), Yuan H(2,)(3), Schutz H(4), Winschel A(4), Chen W(2), Hu C(2), Kusumoto H(2), Heyne HO(1), Helbig KL(5), Tang S(5), Willing MC(6), Tinkle BT(7), Adams DJ(8), Depienne C(9,)(10,)(11,)(12), Keren B(9,)(10), Mignot C(10), Frengen E(13), Strmme P(14), Biskup S(15), Docker D(15), Strom TM(16), Mefford HC(17), Myers CT(17), Muir AM(17), LaCroix A(17), Sadleir L(18), Scheffer IE(19), Brilstra E(20), van Haelst MM(20), van der Smagt JJ(20), Bok LA(21), Mller RS(22,)(23), Jensen UB(24), Millichap JJ(25), Berg AT(25), Goldberg EM(26,)(27), De Bie I(28), Fox S(28), Major P(29), Jones JR(30), Zackai EH(31), Abou Jamra R(1,)(32), Rolfs A(32), Leventer RJ(33,)(34), Lawson JA(35), Roscioli T(36), Jansen FE(37), Ranza E(38), Korff CM(39), Lehesjoki AE(40,)(41), Courage C(40,)(41), Linnankivi T(42), Smith DR(43), Stanley C(43), Mintz M(44), McKnight D(45), Decker A(45), Tan WH(46), Tarnopolsky MA(47), Brady LI(47), Wolff M(48), Dondit L(49), Pedro HF(50), Parisotto SE(50), Jones KL(51), Patel AD(52,)(53), Franz DN(54), Vanzo R(55), Marco E(56), Ranells JD(57), Di Donato N(58), Dobyns WB(59,)(60,)(61), Laube B(4), Traynelis SF(2,)(3), Lemke JR(62).

  J Med Genet 4 avril 2017.

• Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

  Heide S(1), Keren B(2), Billette de Villemeur T(3), Chantot-Bastaraud S(4), Depienne C(5), Nava C(6), Mignot C(7), Jacquette A(7), Fonteneau E(2), Lejeune E(2), Mach C(2), Marey I(7), Whalen S(8), Lacombe D(9), Naudion S(9), Rooryck C(9), Toutain A(10), Caignec CL(11), Haye D(12), Olivier-Faivre L(13), Masurel-Paulet A(13), Thauvin-Robinet C(13), Lesne F(7), Faudet A(7), Ville D(14), des Portes V(14), Sanlaville D(15), Siffroi JP(4), Moutard ML(3), Heron D(16).

  J Pediatr 8 mars 2017.

• Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

  Depienne C(1,)(2,)(3,)(4,)(5), Nava C(6,)(7,)(8), Keren B(6,)(7), Heide S(7,)(9), Rastetter A(6), Passemard S(10,)(11,)(12), Chantot-Bastaraud S(13), Moutard ML(14,)(15,)(16), Agrawal PB(17), VanNoy G(17), Stoler JM(17), Amor DJ(18,)(19), Billette de Villemeur T(12,)(14,)(15,)(20), Doummar D(14,)(16), Alby C(21,)(22), Cormier-Daire V(23,)(22), Garel C(24), Marzin P(7), Scheidecker S(25), de Saint-Martin A(26,)(27), Hirsch E(26,)(28), Korff C(29), Bottani A(30), Faivre L(31,)(32), Verloes A(11), Orzechowski C(33), Burglen L(12,)(34,)(35), Leheup B(36), Roume J(37), Andrieux J(38), Sheth F(39), Datar C(40), Parker MJ(41), Pasquier L(42), Odent S(42,)(43,)(44), Naudion S(45), Delrue MA(45,)(46), Le Caignec C(47,)(48), Vincent M(47), Isidor B(47,)(48), Renaldo F(10,)(14), Stewart F(49), Toutain A(50), Koehler U(51), Hackl B(52), von Stulpnagel C(52), Kluger G(52,)(53), Mller RS(54,)(55,)(8), Pal D(56,)(8), Jonson T(57), Soller M(58), Verbeek NE(59), van Haelst MM(59), de Kovel C(59), Koeleman B(59,)(60,)(8), Monroe G(59,)(60), van Haaften G(59,)(60); DDD Study, Attie-Bitach T(21,)(22), Boutaud L(21,)(22), Heron D(7,)(9,)(20), Mignot C(61,)(62,)(63,)(64).

  Hum Genet Apr 2017;136:463-479.

• Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

  Marsh AP(1,)(2), Heron D(3,)(4,)(5), Edwards TJ(6,)(7), Quartier A(8), Galea C(9), Nava C(3,)(10), Rastetter A(10), Moutard ML(11,)(12,)(13), Anderson V(14), Bitoun P(15), Bunt J(6), Faudet A(3), Garel C(16), Gillies G(1), Gobius I(6), Guegan J(17), Heide S(3,)(4), Keren B(3,)(10), Lesne F(3), Lukic V(18), Mandelstam SA(2,)(19,)(20), McGillivray G(21), McIlroy A(14), Meneret A(10,)(22), Mignot C(3,)(4,)(5), Morcom LR(6), Odent S(23,)(24), Paolino A(6), Pope K(1), Riant F(25), Robinson GA(26), Spencer-Smith M(14,)(27), Srour M(28,)(29), Stephenson SE(1,)(2), Tankard R(30,)(31), Trouillard O(10), Welniarz Q(10,)(32), Wood A(14,)(33), Brice A(3,)(10), Rouleau G(29,)(34), Attie-Bitach T(35,)(36), Delatycki MB(1,)(2,)(37), Mandel JL(8,)(38), Amor DJ(1,)(2), Roze E(10,)(22), Piton A(8,)(38), Bahlo M(30,)(31), Billette de Villemeur T(5,)(11,)(12,)(39), Sherr EH(40), Leventer RJ(2,)(41,)(42), Richards LJ(6,)(43), Lockhart PJ(1,)(2), Depienne C(3,)(8,)(10,)(38).

  Nat Genet 27 février 2017.

• Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature.

  Oriane Trouillard, Jeanette Koht, Thorsten Gerstner, Siri Moland, Christel Depienne, Isabelle Dusart, Aure´lie Meneret,Marta Ruiz, Caroline Dubacq & Emmanuel Roze

  Tremor and Other Hyperkinetic Movements november 2016 2016;3:424.

• Histomorphological Phenotyping of the Adult Mouse Brain.

  Mikhaleva A(1), Kannan M(1,)(2,)(3,)(4,)(5), Wagner C(2,)(3,)(4,)(5), Yalcin B(1,)(2,)(3,)(4,)(5).

  Curr Protoc Mouse Biol 1 septembre 2016;6:307-32.