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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases (2023) Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel HL, Reiter AM, et al. Journal article Controlling my genome with my smartphone: first clinical experiences of the PROMISE system (2021) Amr A, Hinderer M, Griebel L, Deuber D, Egger C, Sedaghat-Hamedani F, Kayvanpour E, et al. Journal article The Patient as Genomic Data Manager - Evaluation of the PROMISE App (2020) Griebel L, Hinderer M, Amr A, Meder B, Schweig M, Deuber D, Egger C, et al. Book chapter / Article in edited volumes Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study (2020) Cöktü S, Spix C, Kaiser M, Beygo J, Kleinle S, Bachmann N, Kohlschmidt N, et al. Journal article De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies (2019) Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, et al. Conference contribution De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies (2019) Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, et al. Journal article Identification of a rare presenilin 1 single amino acid deletion mutation (F175del) with unusual amyloid-β processing effects (2019) Vöglein J, Willem M, Trambauer J, Schönecker S, Dieterich M, Biskup S, Giudici C, et al. Journal article PEDIA: prioritization of exome data by image analysis (2019) Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, et al. Journal article My Genome Belongs to Me: Controlling Third Party Computation on Genomic Data (2019) Deuber D, Egger C, Fech K, Malavolta G, Schröder D, Thyagarajan SAK, Battke F, Durand C Journal article, Original 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