4 départements de recherche
750 employés
45 nationalités
55 équipes de recherche
16 lauréats ERC
260 publications par an
24000 m² de laboratoires

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Publications de Jamel CHELLY

  • 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

  • Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.

    Montaut S(1), Tranchant C(1)(2)(3), Drouot N(3), Rudolf G(1)(2)(3), Guissart C(4), Tarabeux J(5), Stemmelen T(3), Velt A(5), Fourrage C(6), Nitschke P(6), Gerard B(5), Mandel JL(3)(5), Koenig M(4), Chelly J(2)(3)(5), Anheim M(1)(2)(3); French Parkinsons and Movement Disorders Consortium.

    JAMA Neurol 18 juin 2018

  • Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.

    Broix L(1)(2)(3)(4)(5), Asselin L(1)(2)(3)(4), Silva CG(6), Ivanova EL(1)(2)(3)(4), Tilly P(1)(2)(3)(4), Gilet JG(1)(2)(3)(4), Lebrun N(5), Jagline H(1)(2)(3)(4), Muraca G(5), Saillour Y(5), Drouot N(1)(2)(3)(4), Reilly ML(7)(8)(9), Francis F(10)(11)(12), Benmerah A(8)(9), Bahi-Buisson N(7)(8), Belvindrah R(10)(11)(12), Nguyen L(6), Godin JD(1)(2)(3)(4), Chelly J(1)(2)(3)(4)(13), Hinckelmann MV(1)(2)(3)(4).

    Hum Mol Genet 15 janvier 2018

  • 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

  • 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

  • FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

    Piard J(1), Hu JH(2)(3), Campeau PM(4), Rzonca S(5), Van Esch H(6), Vincent E(2), Han M(2), Rossignol E(7), Castaneda J(5), Chelly J(8), Skinner C(9), Kalscheuer VM(10), Wang R(2), Lemyre E(4), Kosinska J(5), Stawinski P(5), Bal J(5), Hoffman DA(3), Schwartz CE(9), Van Maldergem L(1)(11), Wang T(2), Worley PF(2).

    Hum Mol Genet 15 février 2018

  • KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

    Gueneau L(1), Fish RJ(2), Shamseldin HE(3), Voisin N(1), Tran Mau-Them F(4), Preiksaitiene E(5), Monroe GR(6), Lai A(7), Putoux A(8), Allias F(9), Ambusaidi Q(10), Ambrozaityte L(5), Cimbalistiene L(5), Delafontaine J(11), Guex N(11), Hashem M(3), Kurdi W(10), Jamuar SS(12), Ying LJ(13), Bonnard C(14), Pippucci T(15), Pradervand S(16), Roechert B(11), van Hasselt PM(6), Wiederkehr M(1), Wright CF(17); DDD Study, Xenarios I(16), van Haaften G(6), Shaw-Smith C(18), Schindewolf EM(19), Neerman-Arbez M(2), Sanlaville D(8), Lesca G(8), Guibaud L(20), Reversade B(21), Chelly J(4), Kucinskas V(5), Alkuraya FS(22), Reymond A(23).

    Am J Hum Genet 4 janvier 2018

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