共 50 条
- [1] MISSENSE MUTATIONS DISRUPTING THE HELICASE DOMAIN OF CHROMATIN REMODELLER CHD3 CAUSE A NOVEL NEURODEVELOPMENTAL SYNDROME WITH INTELLECTUAL DISABILITY, MACROCEPHALY AND IMPAIRED SPEECH AND LANGUAGEAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (04) : 705 - 705Blok, L. S.Rousseau, J.Twist, J.Ehresmann, S.Takaku, M.Wade, P. A.Fisher, S. E.Campeau, P. M.
- [2] De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsAMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (04) : 934 - 941Weiss, KarinTerhal, Paulien A.Cohen, LiorBruccoleri, MichaelIrving, MelitaMartinez, Ariel F.Rosenfeld, Jill A.Machol, KerenYang, YapingLiu, PengfeiWalkiewicz, MagdalenaBeuten, JokeGomez-Ospina, NataliaHaude, KatrinaFong, Chin-ToEnns, Gregory M.Bernstein, Jonathan A.Fan, JudithGotway, GarrettGhorbani, Mohammadvan Gassen, KoenMonroe, Glen R.van Haaften, GijsBasel-Vanagaite, LinaYang, Xiang-JiaoCampeau, Philippe M.Muenke, Maximilian
- [3] CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageNATURE COMMUNICATIONS, 2018, 9Blok, Lot SnijdersRousseau, JustineTwist, JoannaEhresmann, SophieTakaku, MotokiVenselaar, HankaRodan, Lance H.Nowak, Catherine B.Douglas, JessicaSwoboda, Kathryn J.Steeves, Marcie A.Sahai, InderneelStumpel, Connie T. R. M.Stegmann, Alexander P. A.Wheeler, PatriciaWilling, MarciaFiala, EliseKochhar, AainaGibson, William T.Cohen, Ana S. A.Agbahovbe, RukyInnes, A. MicheilAu, P. Y. BillieRankin, JuliaAnderson, Ilse J.Skinner, Steven A.Louie, Raymond J.Warren, Hannah E.Afenjar, AlexandraKeren, BorisNava, CarolineBuratti, JulienIsapof, ArnaudRodriguez, DianaLewandowski, RaymondPropst, Jennifervan Essen, TonChoi, MurimLee, SangmoonChae, Jong H.Price, SusanSchnur, Rhonda E.Douglas, GankaWentzensen, Ingrid M.Zweier, ChristianeReis, AndreBialer, Martin G.Moore, ChristineKoopmans, MarijeBrilstra, Eva H.
- [4] CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageNature Communications, 9Lot Snijders BlokJustine RousseauJoanna TwistSophie EhresmannMotoki TakakuHanka VenselaarLance H. RodanCatherine B. NowakJessica DouglasKathryn J. SwobodaMarcie A. SteevesInderneel SahaiConnie T. R. M. StumpelAlexander P. A. StegmannPatricia WheelerMarcia WillingElise FialaAaina KochharWilliam T. GibsonAna S. A. CohenRuky AgbahovbeA. Micheil InnesP. Y. Billie AuJulia RankinIlse J. AndersonSteven A. SkinnerRaymond J. LouieHannah E. WarrenAlexandra AfenjarBoris KerenCaroline NavaJulien BurattiArnaud IsapofDiana RodriguezRaymond LewandowskiJennifer PropstTon van EssenMurim ChoiSangmoon LeeJong H. ChaeSusan PriceRhonda E. SchnurGanka DouglasIngrid M. WentzensenChristiane ZweierAndré ReisMartin G. BialerChristine MooreMarije KoopmansEva H. Brilstra
- [5] The SUMO protease SENP1 and the chromatin remodeler CHD3 interact and jointly affect chromatin accessibility and gene expressionJOURNAL OF BIOLOGICAL CHEMISTRY, 2018, 293 (40) : 15439 - 15454Rodriguez-Castaneda, FernandoLemnna, Roza BerhanuCuervo, IgnacioBengtsen, MadsMoen, Lisa MarieLedsaak, MaritEskeland, RagnhildGabrielsen, Odd Stokke
- [6] De Novo Mutations in EBF3 Cause a Neurodevelopmental SyndromeAMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (01) : 138 - 150Sleven, HannahWelsh, Seth J.Yu, JingChurchill, Mair E. A.Wright, Caroline F.Henderson, AlexHorvath, RitaRankin, JuliaVogt, JulieMagee, AlexMcConnell, VivienneGreen, AndrewKing, Mary D.Cox, HelenArmstrong, LinleaLehman, AnnaNelson, Tanya N.Williams, JonathanClouston, PennyHagman, JamesNemeth, Andrea H.
- [7] Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageNature Communications, 10Lot Snijders BlokJustine RousseauJoanna TwistSophie EhresmannMotoki TakakuHanka VenselaarLance H. RodanCatherine B. NowakJessica DouglasKathryn J. SwobodaMarcie A. SteevesInderneel SahaiConnie T. R. M. StumpelAlexander P. A. StegmannPatricia WheelerMarcia WillingElise FialaAaina KochharWilliam T. GibsonAna S. A. CohenRuky AgbahovbeA. Micheil InnesP. Y. Billie AuJulia RankinIlse J. AndersonSteven A. SkinnerRaymond J. LouieHannah E. WarrenAlexandra AfenjarBoris KerenCaroline NavaJulien BurattiArnaud IsapofDiana RodriguezRaymond LewandowskiJennifer PropstTon van EssenMurim ChoiSangmoon LeeJong H. ChaeSusan PriceRhonda E. SchnurGanka DouglasIngrid M. WentzensenChristiane ZweierAndré ReisMartin G. BialerChristine MooreMarije KoopmansEva H. Brilstra
- [8] Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageNature Communications, 10Lot Snijders BlokJustine RousseauJoanna TwistSophie EhresmannMotoki TakakuHanka VenselaarLance H. RodanCatherine B. NowakJessica DouglasKathryn J. SwobodaMarcie A. SteevesInderneel SahaiConnie T. R. M. StumpelAlexander P. A. StegmannPatricia WheelerMarcia WillingElise FialaAaina KochharWilliam T. GibsonAna S. A. CohenRuky AgbahovbeA. Micheil InnesP. Y. Billie AuJulia RankinIlse J. AndersonSteven A. SkinnerRaymond J. LouieHannah E. WarrenAlexandra AfenjarBoris KerenCaroline NavaJulien BurattiArnaud IsapofDiana RodriguezRaymond LewandowskiJennifer PropstTon van EssenMurim ChoiSangmoon LeeJong H. ChaeSusan PriceRhonda E. SchnurGanka DouglasIngrid M. WentzensenChristiane ZweierAndré ReisMartin G. BialerChristine MooreMarije KoopmansEva H. Brilstra
- [9] DE NOVO TRUNCATING MUTATION IN THE CHROMATIN REMODELER CHD8 IN A PATIENT WITH AUTISM, MACROCEPHALY AND OVERGROWTHAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (08) : 1718 - 1719Au, P. Y. B.Smith, C. S.Lamont, R. E.Racher, H. E.Parboosingh, J. S.Bernier, F.Innes, A. M.
- [10] The CHD3 Chromatin Remodeler PICKLE and Polycomb Group Proteins Antagonistically Regulate Meristem Activity in the Arabidopsis RootPLANT CELL, 2011, 23 (03): : 1047 - 1060Aichinger, ErnstVillar, Corina B. R.Di Mambro, RiccardoSabatini, SabrinaKoehler, Claudia