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

• Researchers

  Jamel CHELLY

  Anne DE SAINT-MARTIN

  Edouard Franck HIRSCH

  Béatrice LANNES

  Jean-Louis MANDEL

  Hervé MOINE

  Amélie PITON

• Post-Doctoral Fellows

  Florent COLIN

  Maria Victoria HINCKELMANN RIVAS

  Ekaterina IVANOVA

• PhD Students

  Jérémie COURRAUD

  Johan GILET

  Karima HABBAS-BERKIOUI

• Engineers & Technicians

  Nathalie DROUOT

  Eric FLATTER

  Gabrielle RUDOLF

  Valérie SKORY

• Trainee

  Meriam HADJ AMOR

Translational medicine and neurogenetics

Genetics and pathophysiology of neurodevelopmental and Epileptogenic Disorders

Publications

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• Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.

  Rey T(1)(2), Tarabeux J(2), Gerard B(2), Delbarre M(2), Le Bechec A(3), Stoetzel C(4), Prasad M(4), Laugel-Haushalter V(4), Kawczynski M(1)(5), Muller J(2)(4), Chelly J(2)(6), Dollfus H(4), Maniere MC(1)(5), Bloch-Zupan A(7)(8)(9)(10)(11).

  Methods Mol Biol 2019;1922:407-452.

• ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

  Carapito R(1), Ivanova EL(2), Morlon A(3), Meng L(4), Molitor A(5), Erdmann E(2), Kieffer B(2), Pichot A(5), Naegely L(5), Kolmer A(5), Paul N(5), Hanauer A(5), Tran Mau-Them F(6), Jean-Marcais N(6), Hiatt SM(7), Cooper GM(7), Tvrdik T(8), Muir AM(9), Dimartino C(10), Chopra M(11), Amiel J(12), Gordon CT(10), Dutreux F(5), Garde A(6), Thauvin-Robinet C(6), Wang X(4), Leduc MS(4), Phillips M(13), Crawford HP(13), Kukolich MK(13), Hunt D(14), Harrison V(14), Kharbanda M(14); Deciphering Developmental Disorders Study(15); University of Washington Center for Mendelian Genomics, Smigiel R(16), Gold N(17), Hung CY(17), Viskochil DH(18), Dugan SL(18), Bayrak-Toydemir P(19), Joly-Helas G(20), Guerrot AM(20), Schluth-Bolard C(21), Rio M(22), Wentzensen IM(23), McWalter K(23), Schnur RE(23), Lewis AM(24), Lalani SR(24), Mensah-Bonsu N(25), Ceraline J(26), Sun Z(27), Ploski R(28), Bacino CA(24), Mefford HC(9), Faivre L(6), Bodamer O(29), Chelly J(30), Isidor B(31), Bahram S(32).

  Am J Hum Genet Dec. 26, 2018.

• GRIN2A-related disorders: genotype and functional consequence predict phenotype.

  Strehlow V(1), Heyne HO(1)(2)(3), Vlaskamp DRM(4)(5), Marwick KFM(6), Rudolf G(7)(8)(9)(10), de Bellescize J(11), Biskup S(12), Brilstra EH(13), Brouwer OF(4), Callenbach PMC(4), Hentschel J(1), Hirsch E(8)(9)(10)(14), Kind PC(6)(15)(16), Mignot C(17)(18)(19), Platzer K(1), Rump P(5), Skehel PA(6), Wyllie DJA(6)(15)(16); GRIN2A study group, Hardingham GE(6)(15)(20), van Ravenswaaij-Arts CMA(5), Lesca G(21)(22)(23), Lemke JR(1).

  Brain Dec. 12, 2018.

• Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.

  Vuillaumier-Barrot S(1)(2)(3), Schiff M(4), Mattioli F(5)(6)(7)(8)(9), Schaefer E(10), Dupont A(11), Dancourt J(12), Dupre T(13)(14)(15), Couvineau A(14)(15), de Baulny HO(4), de Lonlay P(16), Seta N(13), Moore S(14)(15), Chantret I(14)(15).

  Pediatr Res Nov. 12, 2018.

• Further refinement of COL4A1 and COL4A2 related cortical malformations.

  Cavallin M(1), Mine M(2), Philbert M(1), Boddaert N(3), Lepage JM(4), Coste T(2), Lopez-Gonzalez V(5), Sanchez-Soler MJ(5), Ballesta-Martinez MJ(5), Remerand G(6), Pasquier L(7), Guet A(8), Chelly J(9), Lascelles K(10), Prieto-Morin C(2), Kossorotoff M(11), Tournier Lasserve E(2), Bahi-Buisson N(12).

  Eur J Med Genet Oct. 10, 2018.

• Of local translation control and lipid signaling in neurons.

  Moine H(1), Vitale N(2).

  Adv Biol Regul Sept. 15, 2018.

• Sex-specific impact of prenatal androgens on social brain default mode subsystems.

  Lombardo MV(1)(2), Auyeung B(3)(4), Pramparo T(5), Quartier A(6)(7)(8)(9), Courraud J(6)(7)(8)(9), Holt RJ(3), Waldman J(3), Ruigrok ANV(3), Mooney N(3), Bethlehem RAI(3), Lai MC(3)(10)(11), Kundu P(12), Bullmore ET(13)(14)(15), Mandel JL(6)(7)(8)(9)(16), Piton A(6)(7)(8)(9), Baron-Cohen S(3)(14).

  Mol Psychiatry Aug. 13, 2018.

• Selective alteration of adult hippocampal neurogenesis and impaired spatial pattern separation performance in the RSK2-deficient mouse model of Coffin-Lowry syndrome.

  Castillon C(1), Lunion S(1), Desvignes N(1), Hanauer A(2), Laroche S(1), Poirier R(3).

  Neurobiol Dis Jul 2018;115:69-81.