Skip to main content

and
  1. Article

    Open Access

    Author Correction: Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases

    Daniel Moynihan, Sean Monaco, Teck Wah Ting, Kaavya Narasimhalu in Scientific Reports (2024)

  2. Article

    Open Access

    Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases

    Rare genetic diseases affect 5–8% of the population but are often undiagnosed or misdiagnosed. Electronic health records (EHR) contain large amounts of data, which provide opportunities for analysing and minin...

    Daniel Moynihan, Sean Monaco, Teck Wah Ting, Kaavya Narasimhalu in Scientific Reports (2024)

  3. Article

    Open Access

    Correction to: Family history assessment significantly enhances delivery of precision medicine in the genomics era

    Yasmin Bylstra, Weng Khong Lim, Sylvia Kam, Koei Wan Tham, R. Ryanne Wu in Genome Medicine (2021)

  4. Article

    Open Access

    Family history assessment significantly enhances delivery of precision medicine in the genomics era

    Family history has traditionally been an essential part of clinical care to assess health risks. However, declining sequencing costs have precipitated a shift towards genomics-first approaches in population sc...

    Yasmin Bylstra, Weng Khong Lim, Sylvia Kam, Koei Wan Tham, R. Ryanne Wu in Genome Medicine (2021)

  5. Article

    Open Access

    Implementation of genomics in medical practice to deliver precision medicine for an Asian population

    Whilst the underlying principles of precision medicine are comparable across the globe, genomic references, health practices, costs and discrimination policies differ in Asian settings compared to the reported...

    Yasmin Bylstra, Sonia Davila, Weng Khong Lim, Ryanne Wu in npj Genomic Medicine (2019)

  6. No Access

    Article

    Experience of Asian males communicating cardiac genetic risk within the family

    The genetic nature of an inherited cardiac condition (ICC) places first- and second-degree relatives at risk of cardiac complications and sudden death, even in the absence of symptoms. Communication of cardiac...

    Sylvia Kam, Yasmin Bylstra, Laura Forrest, Ivan Macciocca in Journal of Community Genetics (2018)