4 départements de recherche
750 employés
45 nationalités
55 équipes de recherche
16 lauréats ERC
260 publications par an
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Publications de Jamel CHELLY

  • 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

  • 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 8 janvier 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

  • A novel recurrent LIS1 splice site mutation in classic lissencephaly.

    Philbert M(1,)(2), Maillard C(1,)(2), Cavallin M(1,)(2), Goldenberg A(3), Masson C(4), Boddaert N(5,)(6), El Morjani A(1,)(7), Steffann J(1,)(7), Chelly J(8,)(9,)(10,)(11,)(12), Gerard X(1,)(13), Bahi-Buisson N(1,)(2,)(14).

    Am J Med Genet A Feb 2017

  • De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

    Kury S(1), van Woerden GM(2), Besnard T(3), Proietti Onori M(2), Latypova X(3), Towne MC(4), Cho MT(5), Prescott TE(6), Ploeg MA(2), Sanders S(7), Stessman HAF(8), Pujol A(9), Distel B(10), Robak LA(11), Bernstein JA(12), Denomme-Pichon AS(13), Lesca G(14), Sellars EA(15), Berg J(16), Carre W(17), Busk L(6), van Bon BWM(18), Waugh JL(19), Deardorff M(20), Hoganson GE(21), Bosanko KB(15), Johnson DS(22), Dabir T(23), Holla L(6), Sarkar A(24), Tveten K(6), de Bellescize J(25), Braathen GJ(6), Terhal PA(26), Grange DK(27), van Haeringen A(28), Lam C(29), Mirzaa G(30), Burton J(21), Bhoj EJ(31), Douglas J(32), Santani AB(33), Nesbitt AI(34), Helbig KL(35), Andrews MV(27), Begtrup A(5), Tang S(36), van Gassen KLI(26), Juusola J(5), Foss K(37), Enns GM(12), Moog U(38), Hinderhofer K(38), Paramasivam N(39), Lincoln S(32), Kusako BH(32), Lindenbaum P(40), Charpentier E(40), Nowak CB(32), Cherot E(17), Simonet T(25), Ruivenkamp CAL(28), Hahn S(29), Brownstein CA(4), Xia F(41), Schmitt S(3), Deb W(3), Bonneau D(13), Nizon M(3), Quinquis D(3), Chelly J(42), Rudolf G(43), Sanlaville D(14), Parent P(44), Gilbert-Dussardier B(45), Toutain A(46), Sutton VR(47), Thies J(48), Peart-Vissers LELM(18), Boisseau P(3), Vincent M(3), Grabrucker AM(49), Dubourg C(17); Undiagnosed Diseases Network, Tan WH(32), Verbeek NE(26), Granzow M(38), Santen GWE(28), Shendure J(50), Isidor B(3), Pasquier L(51), Redon R(40), Yang Y(41), State MW(7), Kleefstra T(18), Cogne B(3); GEM HUGO(52); Deciphering Developmental Disorders Study(53), Petrovski S(54), Retterer K(5), Eichler EE(50), Rosenfeld JA(11), Agrawal PB(55), Bezieau S(56), Odent S(51), Elgersma Y(57), Mercier S(3).

    Am J Hum Genet 2 novembre 2017

  • Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

    Ivanova EL(1), Mau-Them FT(2), Riazuddin S(3), Kahrizi K(4), Laugel V(5), Schaefer E(6), de Saint Martin A(7), Runge K(1), Iqbal Z(8), Spitz MA(5), Laura M(9), Drouot N(1), Gerard B(9), Deleuze JF(10), de Brouwer APM(11), Razzaq A(12), Dollfus H(6), Assir MZ(13), Nitchke P(14), Hinckelmann MV(1), Ropers H(15), Riazuddin S(13), Najmabadi H(4), van Bokhoven H(11), Chelly J(16).

    Am J Hum Genet 7 septembre 2017

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