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 IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.

  Estrada-Cuzcano A(1), Etard C(2), Delvallee C(1), Stoetzel C(1), Schaefer E(1)(3), Scheidecker S(1)(4), Geoffroy V(1), Schneider A(1), Studer F(5), Mattioli F(6), Chennen K(1)(7), Sigaudy S(8), Plassard D(9), Poch O(7), Piton A(4)(6), Strahle U(2), Muller J(1)(4), Dollfus H(1)(3)(5).

  Hum Mutat Sept. 24, 2019.

• Attitudes towards genetic information delivered by high-throughput sequencing among clinical molecular Geneticists, genetic counselors, medical advisors and students in France.

  Titerlea V(1), Dembele D(2), Mandel JL(3), Laporte J(2).

  Eur J Med Genet Sep 16:103770 2019.

• Clinical, histological, and genetic characterization of PYROXD1-related myopathy.

  Lornage X(1)(2)(3)(4), Schartner V(1)(2)(3)(4), Balbueno I(1)(2)(3)(4), Biancalana V(1)(2)(3)(4)(5), Willis T(6), Echaniz-Laguna A(7)(8)(9), Scheidecker S(10), Quinlivan R(11), Fardeau M(12)(13)(14), Malfatti E(15), Lannes B(16), Sewry C(6)(17), Romero NB(12)(13)(14), Laporte J(18)(19)(20)(21), Bohm J(22)(23)(24)(25).

  Acta Neuropathol Commun Aug. 27, 2019;7:138.

• Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

  Balak C(1), Benard M(2), Schaefer E(3), Iqbal S(4), Ramsey K(5), Ernoult-Lange M(2), Mattioli F(6), Llaci L(5), Geoffroy V(7), Courel M(2), Naymik M(5), Bachman KK(8), Pfundt R(9), Rump P(10), Ter Beest J(9), Wentzensen IM(11), Monaghan KG(11), McWalter K(11), Richholt R(12), Le Bechec A(13), Jepsen W(5), De Both M(5), Belnap N(14), Boland A(15), Piras IS(5), Deleuze JF(15), Szelinger S(5), Dollfus H(3), Chelly J(16), Muller J(17), Campbell A(4), Lal D(18), Rangasamy S(5), Mandel JL(19), Narayanan V(5), Huentelman M(5), Weil D(2), Piton A(20).

  Am J Hum Genet Aug. 5, 2019.

• Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations.

  Lesca G(1), Mller RS(2), Rudolf G(3), Hirsch E(4), Hjalgrim H(2), Szepetowski P(5).

  Epileptic Disord June 1, 2019;21:41-47.

• Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder.

  Lopez R(1)(2), Rivier F(3)(4), Chelly J(5)(6), Dauvilliers Y(1)(2).

  Ann Clin Transl Neurol Aug. 7, 2019.

• Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.

  Collins SC(1)(2)(3)(4)(5), Mikhaleva A(6), Vrcelj K(7), Vancollie VE(8), Wagner C(1)(2)(3)(4), Demeure N(1)(2)(3)(4), Whitley H(1)(2)(3)(4), Kannan M(1)(2)(3)(4), Balz R(6), Anthony LFE(8), Edwards A(9)(10), Moine H(1)(2)(3)(4), White JK(8), Adams DJ(8), Reymond A(6), Lelliott CJ(8), Webber C(7)(11), Yalcin B(12)(13)(14)(15)(16).

  Nat Commun Aug. 1, 2019;10:3465.

• IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

  Mignot C(1)(2), McMahon AC(3), Bar C(4)(5)(6), Campeau PM(7), Davidson C(3), Buratti J(8), Nava C(9)(8), Jacquemont ML(10), Tallot M(10), Milh M(11)(12), Edery P(13)(14)(15), Marzin P(8), Barcia G(5)(6)(16), Barnerias C(17), Besmond C(5)(6), Bienvenu T(18)(19), Bruel AL(20)(21), Brunga L(22), Ceulemans B(23), Coubes C(24), Cristancho AG(25), Cunningham F(3), Dehouck MB(26), Donner EJ(22), Duban-Bedu B(26), Dubourg C(27), Gardella E(28)(29), Gauthier J(7), Genevieve D(24)(30), Gobin-Limballe S(16), Goldberg EM(25), Hagebeuk E(31), Hamdan FF(7), Hancarova M(32), Hubert L(5)(6), Ioos C(33), Ichikawa S(34), Janssens S(35), Journel H(36), Kaminska A(37), Keren B(8), Koopmans M(38), Lacoste C(39), Lassuthova P(40), Lederer D(41), Lehalle D(20)(42), Marjanovic D(28), Metreau J(43), Michaud JL(7), Miller K(44), Minassian BA(22), Morales J(3), Moutard ML(45)(46), Munnich A(5)(6)(16), Ortiz-Gonzalez XR(25), Pinard JM(47), Prchalova D(32), Putoux A(13)(14)(15), Quelin C(48), Rosen AR(25), Roume J(49), Rossignol E(50), Simon MEH(38), Smol T(51), Shur N(44), Shelihan I(7), Sterbova K(40), Vyhnalkova E(32), Vilain C(52)(53)(54), Soblet J(52)(53)(54), Smits G(52)(53)(54), Yang SP(55), van der Smagt JJ(38), van Hasselt PM(56), van Kempen M(38), Weckhuysen S(57)(58), Helbig I(25), Villard L(12)(39), Heron D(8), Koeleman B(38), Mller RS(27)(28), Lesca G(13)(14)(15), Helbig KL(25), Nabbout R(4)(5)(6), Verbeek NE(38), Depienne C(59)(60)(61).

  Genet Med Apr 2019;21:837-849.