Research interests

spinal muscular atrophy; connective tissue disorders (osteogenesis Imperfecta, Marfan Syndrome); congenital anomalies

Research output

  1. An exemplary model of genetic counselling for highly specialised services

    Research output: Contribution to journal › Review article › Academic › peer-review

  2. Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

    Research output: Contribution to journal › Article › Academic › peer-review

  3. Genotype–phenotype correlation at codon 1740 of SETD2

    Research output: Contribution to journal › Article › Academic › peer-review

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