The Team
  • Researchers

    Jamel CHELLY

    Anne DE SAINT-MARTIN

    Edouard Franck HIRSCH

    Béatrice LANNES

  • Post-Doctoral Fellows

    Maria Victoria HINCKELMANN RIVAS

  • Phd Students

    Loïc BROIX

    Ekaterina IVANOVA

    Hélène JAGLINE

  • Engineers & Technicians

    Nathalie DROUOT

    Gabrielle RUDOLF

  • Master

    Solveig MONTAUT

  • Trainee

    Marie-Thérèse ABI WARDE

Translational medicine and neurogenetics

Genetics and pathophysiology of neurodevelopmental and Epileptogenic Disorders

Publications

Print the whole list

  • De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

    de Lange IM(1), Helbig KL(2), Weckhuysen S(3), Møller RS(4), Velinov M(5), Dolzhanskaya N(5), Marsh E(6), Helbig I(6), Devinsky O(7), Tang S(2), Mefford HC(8), Myers CT(8), van Paesschen W(9), Striano P(10), van Gassen K(1), van Kempen M(1), de Kovel CG(1), Piard J(11), Minassian BA(12), Nezarati MM(13), Pessoa A(14), Jacquette A(15), Maher B(16), Balestrini S(16), Sisodiya S(16), Warde MT(17), De St Martin A(17), Chelly J(18); EuroEPINOMICS-RES MAE working group, van 't Slot R(1), Van Maldergem L(11), Brilstra EH(1), Koeleman BP(1).

    J Med Genet June 29, 2016.

  • Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.

    Rudolf G(1,)(2,)(3), Lesca G(4,)(5,)(6), Mehrjouy MM(7), Labalme A(4), Salmi M(8,)(9,)(10), Bache I(7,)(11), Bruneau N(8,)(9,)(10), Pendziwiat M(12), Fluss J(13), de Bellescize J(14), Scholly J(3), Møller RS(15,)(16), Craiu D(17), Tommerup N(7), Valenti-Hirsch MP(3), Schluth-Bolard C(4,)(5,)(6), Sloan-Béna F(18), Helbig KL(19), Weckhuysen S(20,)(21,)(22), Edery P(4,)(5,)(6), Coulbaut S(23), Abbas M(23), Scheffer IE(24), Tang S(19), Myers CT(25), Stamberger H(20,)(21,)(22), Carvill GL(25), Shinde DN(19), Mefford HC(25), Neagu E(26), Huether R(27), Lu HM(27), Dica A(17), Cohen JS(28), Iliescu C(17), Pomeran C(17), Rubenstein J(28,)(29), Helbig I(12,)(30), Sanlaville D(4,)(5,)(6), Hirsch E(1,)(2,)(3), Szepetowski P(8,)(9,)(10).

    Eur J Hum Genet June 29, 2016.

  • A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.

    Curie A(1,)(2,)(3,)(4,)(5), Brun A(1,)(2), Cheylus A(2), Reboul A(2), Nazir T(2), Bussy G(1,)(2), Delange K(1,)(2), Paulignan Y(2), Mercier S(6), David A(6), Marignier S(1), Merle L(7), de Fréminville B(8), Prieur F(8), Till M(9), Mortemousque I(10), Toutain A(10), Bieth E(11), Touraine R(8), Sanlaville D(12), Chelly J(13), Kong J(4), Ott D(4), Kassai B(5), Hadjikhani N(4,)(14), Gollub RL(4), des Portes V(1,)(2,)(3).

    PLoS One Feb. 26, 2016;11:e0149717.

  • Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

    Zillhardt JL(1,)(2,)(3), Poirier K(1,)(2), Broix L(1,)(2,)(4), Lebrun N(1,)(2), Elmorjani A(1,)(2), Martinovic J(5), Saillour Y(1,)(2), Muraca G(1,)(2), Nectoux J(1,)(2,)(6), Bessieres B(7), Fallet-Bianco C(8,)(9), Lyonnet S(10), Dulac O(11,)(12,)(13), Odent S(14), Rejeb I(15), Jemaa LB(15), Rivier F(16), Pinson L(17), Geneviève D(17), Musizzano Y(18), Bigi N(19), Leboucq N(20), Giuliano F(21), Philip N(22), Vilain C(23), Van Bogaert P(24), Maurey H(25), Beldjord C(6), Artiguenave F(26), Boland A(26), Olaso R(26), Masson C(27), Nitschké P(27), Deleuze JF(26), Bahi-Buisson N(28,)(29), Chelly J(1,)(2,)(3,)(4).

    Eur J Hum Genet Sept. 23, 2015;24:611-614.

Imprimer Envoyer

Université de Strasbourg
INSERM
CNRS

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