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  1. Article

    Open Access

    Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry

    We refine the clinical spectrum of FOXG1 syndrome and expand genotype–phenotype correlations through evaluation of 122 individuals enrolled in an international patient registry.

    Elise Brimble, Kathryn G. Reyes, Kopika Kuhathaas… in Orphanet Journal of Rare Diseases (2023)

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  2. Article

    Open Access

    Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome

    Williams-Beuren Syndrome (WBS) is caused by the microdeletion of approximately 25 genes on chromosome 7q11.23, and is characterized by a spectrum of cognitive and behavioural features.

    Shahryar Khattak, Elise Brimble, Wenbo Zhang, Kirill Zaslavsky… in Molecular Brain (2015)

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