Dr. rer. nat. Sabine Endele

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Institute of Human Genetics

Publications

(9)

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (2021) Averdunk L, Sticht H, Surowy H, Luedecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, et al. Journal article Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (Journal of Molecular Medicine, (2021), 10.1007/s00109-021-02124-9) (2021) Averdunk L, Sticht H, Surowy H, Luedecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, et al. Journal article, Erratum Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome (2019) Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, et al. Conference contribution Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome (2018) Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, et al. Journal article Loss-of-function variants in HIVEP2 are a cause of intellectual disability (2016) Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, et al. Journal article Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome (2015) Kuechler A, Zink AM, Wieland T, Luedecke HJ, Cremer K, Salviati L, Magini P, et al. Journal article De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females (2015) Popp B, Stove SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, et al. Journal article Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes (2015) Bramswig NC, Luedecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, et al. Journal article Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems (2014) Vulto-Van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, De Rocker N, Newhall KJ, Raghavan R, et al. Journal article