4 research departments
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55 research teams
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Jamel CHELLY publications

  • 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

  • A new mouse model of ARX dup24 recapitulates the patients' behavioral 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 June 15, 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 Oct. 1, 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 Jan. 15, 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 Apr 2018

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