Consultative and Diagnostic Medicine

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    • Network Recent external collaboration on country level. Dive into details by clicking on the dots.

    Research Output

    Observed frequency and challenges of variant reclassification in a hereditary cancer clinic

    Macklin, S., Durand, N., Atwal, P. & Hines, S., Mar 1 2018, In : Genetics in Medicine. 20, 3, p. 346-350 5 p.

    Research output: Contribution to journal › Article

    • 22 Scopus citations

    Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes

    Macklin, S., Mohammed, A., Jackson, J., Hines, S. L., Atwal, P. S. & Caulfield, T., Jan 1 2018, (Accepted/In press) In : Molecular Genetics and Genomic Medicine.

    Research output: Contribution to journal › Article

    • 1 Scopus citations

    Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement

    Mohammad, A. N., Bruno, K. A., Hines, S. & Atwal, P. S., Jun 1 2018, In : Molecular Genetics and Metabolism Reports. 15, p. 11-14 4 p.

    Research output: Contribution to journal › Article

    • 2 Scopus citations