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  1. Article

    Open Access

    De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

    Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed pheno...

    E E Palmer, T Stuhlmann, S Weinert, E Haan, H Van Esch, M Holvoet… in Molecular Psychiatry (2018)

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  2. No Access

    Article

    Impact of FLT3-ITD location on sensitivity to TKI-therapy in vitro and in vivo

    P Arreba-Tutusaus, T S Mack, L Bullinger, T M Schnöder, A Polanetzki, S Weinert… in Leukemia (2016)

  3. Article

    Open Access

    X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of f...

    H Hu, S A Haas, J Chelly, H Van Esch, M Raynaud, A P M de Brouwer… in Molecular Psychiatry (2016)

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