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

• Chercheurs

  Jamel CHELLY

  Anne DE SAINT-MARTIN

  Edouard Franck HIRSCH

  Béatrice LANNES

  Jean-Louis MANDEL

  Hervé MOINE

  Amélie PITON

• Post-Doctorants

  Florent COLIN

  Maria Victoria HINCKELMANN RIVAS

• Doctorants

  Jérémie COURRAUD

  Johan GILET

  Karima HABBAS

  Ekaterina IVANOVA

  Francesca MATTIOLI

• Ingénieurs & Techniciens

  Nathalie DROUOT

  Eric FLATTER

  Timothée MAZZUCOTELLI

  Gabrielle RUDOLF

  Valérie SKORY

• Master

  Imène BOUJELBENE

  Thomas WIRTH

• Stagiaire

  Marie-Thérèse ABI WARDE

  Meriam HADJ AMOR

Médecine translationnelle et neurogénétique

Génétique et physiopathologie de maladies neurodéveloppementales et épileptogènes

Publications

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• De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

  Heinzen EL(1), O'Neill AC(2), Zhu X(1), Allen AS(3)(4), Bahlo M(5)(6), Chelly J(7)(8), Dobyns WB(9)(10), Freytag S(11), Guerrini R(12), Leventer RJ(13)(14)(15), Poduri A(16), Robertson SP(2), Walsh CA(17)(18)(19), Zhang M(4)(20); Epi4K Consortium; Epilepsy Phenome/Genome Project.

  PLoS Genet 8 mai 2018;14:e1007281.

• Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

  Mary L(1), Piton A(2)(3), Schaefer E(4), Mattioli F(5)(6), Nourisson E(1), Feger C(1), Redin C(5)(6), Barth M(7), El Chehadeh S(4)(8), Colin E(7), Coubes C(9), Faivre L(8), Flori E(4), Genevieve D(9), Capri Y(10), Perrin L(10), Fabre-Teste J(10), Timbolschi D(4), Verloes A(10), Olaso R(11), Boland A(11), Deleuze JF(11), Mandel JL(1)(5)(6), Gerard B(1), Giurgea I(12)(13).

  Eur J Hum Genet 26 avril 2018.

• AnnotSV: An integrated tool for Structural Variations annotation.

  Geoffroy V(1), Herenger Y(2), Kress A(3), Stoetzel C(1), Piton A(4)(5), Dollfus H(1)(6), Muller J(1)(4).

  Bioinformatics 14 avril 2018.

• A new mouse model of ARX dup24 recapitulates the patients' behavioural and fine motor alterations.

  Dubos A(1)(2)(3)(4), Meziane H(4), Iacono G(5), Curie A(6), Riet F(4), Martin C(7), Loaec N(8), Birling MC(4), Selloum M(4), Normand E(7)(9), Pavlovic G(4), Sorg T(4), Stunnenberg HG(5), Chelly J(1)(2)(3)(10), Humeau Y(7), Friocourt G(8), Herault Y(1)(2)(3)(4).

  Hum Mol Genet 5 avril 2018.

• Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.

  Lornage X(1)(2)(3)(4), Sabouraud P(5), Lannes B(4)(6), Gaillard D(7), Schneider R(1)(2)(3)(4)(8), Deleuze JF(9), Boland A(9), Thompson J(4)(8), Bohm J(1)(2)(3)(4), Biancalana V(1)(2)(3)(4)(10), Laporte J(1)(2)(3)(4).

  J Neuromuscul Dis 26 mars 2018.

• Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder.

  Quartier A(1), Chatrousse L(2), Redin C(1), Keime C(1), Haumesser N(1), Maglott-Roth A(1), Brino L(1), Le Gras S(1), Benchoua A(2), Mandel JL(3), Piton A(4).

  Biol Psychiatry 9 janvier 2018.

• Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.

  Schalk A(1), Greff G(1), Drouot N(2), Obringer C(3), Dollfus H(3)(4), Laugel V(3)(5), Chelly J(1)(2), Calmels N(6).

  Eur J Hum Genet 8 février 2018.

• Defining the phenotypic spectrum of SLC6A1 mutations.

  Johannesen KM(1)(2), Gardella E(1)(2), Linnankivi T(3), Courage C(4)(5), de Saint Martin A(6)(7), Lehesjoki AE(4)(5), Mignot C(8), Afenjar A(9), Lesca G(10)(11)(12), Abi-Warde MT(6)(7), Chelly J(13)(14), Piton A(13)(14), Merritt JL 2nd(15), Rodan LH(16)(17), Tan WH(16)(17), Bird LM(18), Nespeca M(19), Gleeson JG(20), Yoo Y(21), Choi M(21), Chae JH(22), Czapansky-Beilman D(23), Reichert SC(24), Pendziwiat M(25), Verhoeven JS(26), Schelhaas HJ(26), Devinsky O(27), Christensen J(28), Specchio N(29), Trivisano M(29), Weber YG(30), Nava C(31)(32), Keren B(31)(32), Doummar D(33), Schaefer E(34), Hopkins S(35), Dubbs H(36), Shaw JE(36), Pisani L(36), Myers CT(15), Tang S(37), Tang S(38), Pal DK(38), Millichap JJ(39)(40), Carvill GL(40), Helbig KL(37), Mecarelli O(41), Striano P(42), Helbig I(25)(35), Rubboli G(1)(43), Mefford HC(15), Mller RS(1)(2).

  Epilepsia Feb 2018;59:389-402.