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- [5] Intragenic duplication of EHMT1 gene results in Kleefstra syndromeMOLECULAR CYTOGENETICS, 2014, 7Schwaibold, Eva Maria ChristinaSmogavec, MatejaHobbiebrunken, ElkeWinter, LorenzZoll, BarbaraBurfeind, PeterBrockmann, KnutPauli, Silke
- [6] Intragenic duplication of EHMT1 gene results in Kleefstra syndromeMolecular Cytogenetics, 7Eva Maria Christina SchwaiboldMateja SmogavecElke HobbiebrunkenLorenz WinterBarbara ZollPeter BurfeindKnut BrockmannSilke Pauli
- [7] Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case reportNEUROLOGICAL SCIENCES, 2016, 37 (05) : 829 - 831Marchese, GiovannaRizzo, FrancescaGuacci, AnnaWeisz, AlessandroCoppola, Giangennaro
- [8] Systematic evaluation of EHMT1 protein altering variants uncovers unexpected insights on EHMT1 functions and Kleefstra syndrome pathogenesisEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 456 - 457Rots, DmitrijsYamada, AyumiForoutan, AidinMcCon-Key, HaleyKerkhof, JenniferAlders, MarielleMaystadt, IsabelleHolden, SimonBalasubramanian, MeenaMerla, GiuseppeSan-Ten, GijsBelonis, AlyceBouman, ArianneKummeling, JoostHeijligers, MalouVan Haelst, MiekeParker, MichaelPark, Soo-MiMetcalfe, KayGenevieve, DavidChatron, NicolasPutoux, AudreyPasquier, LaurentDubourg, ChristeleStrobl-Wildemann, GertrudPlomp, AstridVreeburg, MaaikeBaralle, DianaFoulds, NicolaScurr, IngridCappuccio, GerardaBrunetti-Pierri, NicolaVan Hagen, AnnetBijlsma, Emilia K.Firth, HelenForzano, FrancescaKalsner, LouisaHol, Janna A.Courage, CarolinaVanhoutte, ElsBanka, SiddharthVenselaar, HankaKasri, N. Nadifvan Bokhoven, HansBrunner, HanVissers, LisenkaShinkai, YoichiSadikovic, BekimKleefstra, Tjitske
- [9] Characterization of a Novel Transcript of the EHMT1 Gene Reveals Important Diagnostic Implications for Kleefstra SyndromeHUMAN MUTATION, 2011, 32 (07) : 853 - 859Nillesen, Willy M.Yntema, Helger G.Moscarda, MarcoVerbeek, Nienke E.Wilson, Louise C.Cowan, FrancesSchepens, MargaRaas-Rothschild, AnnickGafni-Weinstein, OrlyZollino, MarcellaVijzelaar, RaymonNeri, GiovanniNelen, Marcelvan Bokhoven, HansGiltay, JacquesKleefstra, Tjitske
- [10] REVERSIBLE WHITE MATTER LESIONS ASSOCIATED WITH MUTANT EHMT1 AND KLEEFSTRA SYNDROMENEUROLOGY-GENETICS, 2016, 2 (02)He, XuCaluseriu, OanaSrivastava, RatikaDenny, Anne MarieBolduc, Francois V.