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Jamel CHELLY publications

  • A novel heterozygous ANO3 mutation responsible for myoclonic dystonia.

    Laurencin C(1), Broussolle E(2), Danaila T(3), Anheim M(4), Chelly J(5), Thobois S(2).

    J Neurol Sci June 13, 2019

  • 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

  • Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia.

    Delamarre A(1), Chelly J(2), Guehl D(3), Drouot N(4), Tranchant C(5), Anheim M(5), Burbaud P(3).

    Parkinsonism Relat Disord April 26, 2019

  • Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.

    Quartier A(1)(2)(3)(4), Courraud J(1)(2)(3)(4), Thi Ha T(5)(6), McGillivray G(7), Isidor B(8), Rose K(9), Drouot N(1)(2)(3)(4), Savidan MA(1)(2)(3)(4), Feger C(10), Jagline H(1)(2)(3)(4), Chelly J(1)(2)(3)(4)(10), Shaw M(2), Laumonnier F(11)(12), Gecz J(5)(6), Mandel JL(1)(2)(3)(4)(13), Piton A(1)(2)(3)(4)(10).

    Hum Mutat June 10, 2019

  • Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.

    Rey T(1)(2), Tarabeux J(2), Gerard B(2), Delbarre M(2), Le Bechec A(3), Stoetzel C(4), Prasad M(4), Laugel-Haushalter V(4), Kawczynski M(1)(5), Muller J(2)(4), Chelly J(2)(6), Dollfus H(4), Maniere MC(1)(5), Bloch-Zupan A(7)(8)(9)(10)(11).

    Methods Mol Biol 2019

  • 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

  • The landscape of epilepsy-related GATOR1 variants.

    Baldassari S(1)(2)(3)(4)(5), Picard F(6), Verbeek NE(7), van Kempen M(7), Brilstra EH(7), Lesca G(8), Conti V(9), Guerrini R(9), Bisulli F(10), Licchetta L(10), Pippucci T(11), Tinuper P(10), Hirsch E(12), de Saint Martin A(13), Chelly J(14), Rudolf G(14), Chipaux M(15), Ferrand-Sorbets S(15), Dorfmuller G(15), Sisodiya S(16), Balestrini S(16), Schoeler N(16), Hernandez-Hernandez L(16), Krithika S(16), Oegema R(7), Hagebeuk E(17), Gunning B(17), Deckers C(17), Berghuis B(17), Wegner I(17), Niks E(18), Jansen FE(19), Braun K(19), de Jong D(20), Rubboli G(21), Talvik I(22), Sander V(22), Uldall P(23), Jacquemont ML(24), Nava C(1)(2)(3)(4)(5), Leguern E(1)(2)(3)(4)(5), Julia S(25), Gambardella A(26), d'Orsi G(27), Crichiutti G(28), Faivre L(29), Darmency V(30), Benova B(31), Krsek P(31), Biraben A(32), Lebre AS(33), Jennesson M(34), Sattar S(35), Marchal C(36), Nordli DR Jr(37), Lindstrom K(38), Striano P(39), Lomax LB(40)(41), Kiss C(41), Bartolomei F(42), Lepine AF(42), Schoonjans AS(43), Stouffs K(44), Jansen A(44), Panagiotakaki E(45), Ricard-Mousnier B(46), Thevenon J(47), de Bellescize J(45), Catenoix H(45), Dorn T(48), Zenker M(49), Muller-Schluter K(50), Brandt C(51), Krey I(52), Polster T(51), Wolff M(53), Balci M(54), Rostasy K(54), Achaz G(55), Zacher P(56), Becher T(57), Cloppenborg T(51), Yuskaitis CJ(58)(59)(60), Weckhuysen S(61), Poduri A(58)(59)(60), Lemke JR(52), Mller RS(62), Baulac S(63)(64)(65)(66)(67).

    Genet Med Feb 2019

  • ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

    Carapito R(1), Ivanova EL(2), Morlon A(3), Meng L(4), Molitor A(5), Erdmann E(2), Kieffer B(2), Pichot A(5), Naegely L(5), Kolmer A(5), Paul N(5), Hanauer A(5), Tran Mau-Them F(6), Jean-Marcais N(6), Hiatt SM(7), Cooper GM(7), Tvrdik T(8), Muir AM(9), Dimartino C(10), Chopra M(11), Amiel J(12), Gordon CT(10), Dutreux F(5), Garde A(6), Thauvin-Robinet C(6), Wang X(4), Leduc MS(4), Phillips M(13), Crawford HP(13), Kukolich MK(13), Hunt D(14), Harrison V(14), Kharbanda M(14); Deciphering Developmental Disorders Study(15); University of Washington Center for Mendelian Genomics, Smigiel R(16), Gold N(17), Hung CY(17), Viskochil DH(18), Dugan SL(18), Bayrak-Toydemir P(19), Joly-Helas G(20), Guerrot AM(20), Schluth-Bolard C(21), Rio M(22), Wentzensen IM(23), McWalter K(23), Schnur RE(23), Lewis AM(24), Lalani SR(24), Mensah-Bonsu N(25), Ceraline J(26), Sun Z(27), Ploski R(28), Bacino CA(24), Mefford HC(9), Faivre L(6), Bodamer O(29), Chelly J(30), Isidor B(31), Bahram S(32).

    Am J Hum Genet Feb. 7, 2019

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