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Zosia Miedzybrodzka

Professor

    • AB25 2ZD

    • 4231 Citations
    19952019
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    • 4 Similar Profiles
    Huntington Disease Medicine & Life Sciences
    Mutation Medicine & Life Sciences
    Breast Neoplasms Medicine & Life Sciences
    Clubfoot Medicine & Life Sciences
    Alleles Medicine & Life Sciences
    Ovarian Neoplasms Medicine & Life Sciences
    Genes Medicine & Life Sciences
    Single Nucleotide Polymorphism Medicine & Life Sciences

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    Research Output 1995 2019

    5 Downloads (Pure)

    Parents’ views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study

    Keenan, K. F., Finnie, R. M., Simpson, W. G., McKee, L., Dean, J. & Miedzybrodzka, Z., Jan 2019, In : Journal of Community Genetics. 10, 1, p. 129-141 13 p.

    Research output: Contribution to journal › Article

    Open Access
    File
    Hyperlipoproteinemia Type II
    Genetic Testing
    Parents
    Therapeutics
    Social Adjustment
    1 Downloads (Pure)

    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)

    DDD Study, 5 Nov 2018, In : Nature Communications. 9, 4 p., 4619.

    Research output: Contribution to journal › Article

    Open Access
    File
    2 Citations (Scopus)

    Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences

    Quarrell, O. W., Clarke, A. J., Compton, C., de Die-Smulders, C. E. M., Fryer, A., Jenkins, S., Lahiri, N., MacLeod, R., Miedzybrodzka, Z., Morrison, P. J., Musgrave, H., O'Driscoll, M., Strong, M., van Belzen, M. J., Vermeer, S., Verschuuren-Bemelmans, C. C. & Bijlsma, E. K., 30 Jan 2018, In : American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 177, 1, p. 35 - 39 5 p.

    Research output: Contribution to journal › Article

    Minors
    Huntington Disease
    Netherlands
    Guidelines
    Genome
    2 Citations (Scopus)
    4 Downloads (Pure)

    Routine germline BRCA1 and BRCA2 testing in ovarian carcinoma patients: analysis of the Scottish real life experience

    Rust, K., Spiliopoulou, P., Tang, C. Y., Bell, C., Stirling, D., Phang, T. H. F., Davidson, R., Mackean, M., Nussey, F., Glasspool, R., Reed, N., Sadozye, A., Porteous, M., McGoldrick, T., Ferguson, M., Miedzybrodzka, Z., McNeish, I. A. & Gourley, C., Oct 2018, In : BJOG-An International Journal of Obstetrics and Gynaecology. 125, 11, p. 1451-1458 8 p.

    Research output: Contribution to journal › Article

    Open Access
    File
    Life Change Events
    Carcinoma
    Ovarian Neoplasms
    Mutation
    BRCA2 Gene
    2 Citations (Scopus)
    4 Downloads (Pure)

    The developmental and genetic basis of ‘clubfoot’ in the peroneal muscular atrophy mutant mouse

    Collinson, J. M., Lindstrom, N. O., Neves, C., Wallace, K., Meharg, C., Charles, R., Fraser, A., Mbogo, I., Oras, K., Nakamoto, M., Barker, S., Duce, S., Miedzybrodzka, Z. & Vargesson, N., 8 Feb 2018, In : Development. 145, 3, dev160093.

    Research output: Contribution to journal › Article

    Open Access
    File
    Charcot-Marie-Tooth Disease
    Clubfoot
    Lim Kinases
    Motor Neurons
    Sciatic Nerve