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

• 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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• Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.

  Quartier A(1)(2)(3)(4), Courraud J(1)(2)(3)(4), Thi Ha T(5)(6), McGillivray G(7), Isidor B(8), Rose K(9), Drouot N(1)(2)(3)(4), Savidan MA(1)(2)(3)(4), Feger C(10), Jagline H(1)(2)(3)(4), Chelly J(1)(2)(3)(4)(10), Shaw M(2), Laumonnier F(11)(12), Gecz J(5)(6), Mandel JL(1)(2)(3)(4)(13), Piton A(1)(2)(3)(4)(10).

  Hum Mutat June 10, 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.

• Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia.

  Delamarre A(1), Chelly J(2), Guehl D(3), Drouot N(4), Tranchant C(5), Anheim M(5), Burbaud P(3).

  Parkinsonism Relat Disord April 26, 2019.

• 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.