Dr. rer. nat. Cornelia Kraus

Institute of Human Genetics

SRD5A3-CDG: Twins with an intragenic tandem duplication (2022) Rieger M, Türk M, Kraus C, Uebe S, Ekici AB, Krumbiegel M, Huchzermeyer C, et al. Journal article EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2022) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Conference contribution BDV Syndrome: An Emerging Syndrome with Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome (2021) Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, et al. Journal article Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders (2021) Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, et al. Journal article EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2021) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Journal article 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 Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome) (2021) Hetzelt K, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, 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 PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders (2021) Bayat A, Iqbal S, Borredy K, Amiel J, Zweier C, Barcia G, Kraus C, et al. Journal article Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior (2021) Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, et al. Journal article