Christiane Zweier

Medizinische Fakultät

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome (2017) Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, et al. Journal article Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features (2017) Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, et al. Journal article Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature (2017) Hauer N, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, et al. Journal article Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency (2016) Saunier C, Stove SI, Popp B, Gerard B, Blenski M, Ahmew N, De Bie C, et al. Journal article Zeb2 recruits HDAC-NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination (2016) Wu LMN, Wang J, Conidi A, Zhao C, Wang H, Ford Z, Zhang L, et al. Journal article Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1 (2016) Popp B, Trollmann R, Büttner C, Caliebe A, Thiel C, Hüffmeier U, Reis A, Zweier C Journal article Clinical delineation of the PACS1-related syndrome - Report on 19 patients (2016) Schuurs-Hoeijmakers JHM, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, et al. Journal article, Report Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy (2016) Mignot C, Von Stuelpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, et al. Journal article Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules (2016) Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F, Keerthikumar S, et al. Journal article Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum (2016) Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, et al. Journal article