4 research departments
750 employees
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55 research teams
16 ERC laureates
260 publications per year
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Jamel CHELLY publications

  • 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 Jan. 4, 2018

  • Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.

    Rubboli G(1)(2), Plazzi G(3)(4), Picard F(5), Nobili L(6), Hirsch E(7), Chelly J(8), Prayson RA(9), Boutonnat J(10), Bramerio M(11), Kahane P(12), Dibbens LM(13), Gardella E(1)(14), Baulac S(15)(16)(17), Mller RS(1)(14).

    Ann Clin Transl Neurol Dec. 25, 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 Nov. 2, 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 Sept. 7, 2017

  • Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

    Laquerriere A(1), Maillard C(1), Cavallin M(1), Chapon F(1), Marguet F(1), Molin A(1), Sigaudy S(1), Blouet M(1), Benoist G(1), Fernandez C(1), Poirier K(1), Chelly J(1), Thomas S(1), Bahi-Buisson N(1).

    J Neuropathol Exp Neurol March 1, 2017

  • Protein Kinase A deregulation in the medial prefrontal cortex impairs working memory in murine Oligophrenin1 deficiency.

    Zhang CL(1), Aime M(2), Laheranne E(2), Houbaert X(2), El Oussini H(2), Martin C(2), Lepleux M(2), Normand E(3), Chelly J(4)(5), Herzog E(2), Billuart P(4), Humeau Y(6).

    J Neurosci Oct. 13, 2017

  • Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

    Niturad CE(1), Lev D(2)(3)(4), Kalscheuer VM(5)(6), Charzewska A(7), Schubert J(1)(8), Lerman-Sagie T(3)(4)(9), Kroes HY(10), Oegema R(10), Traverso M(11), Specchio N(12), Lassota M(13), Chelly J(14), Bennett-Back O(15), Carmi N(3)(4)(10), Koffler-Brill T(16), Iacomino M(11), Trivisano M(12), Capovilla G(17), Striano P(18), Nawara M(7), Rzonca S(7), Fischer U(5)(6), Bienek M(5), Jensen C(5), Hu H(5), Thiele H(19), Altmuller J(19)(20), Krause R(8), May P(8), Becker F(1); EuroEPINOMICS Consortium, Balling R(8), Biskup S(21), Haas SA(22), Nurnberg P(19), van Gassen KLI(10), Lerche H(1), Zara F(11), Maljevic S(1), Leshinsky-Silver E(2)(3)(16).

    Brain Nov. 1, 2017

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