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Zosia Miedzybrodzka

Professor

 https://orcid.org/0000-0003-2890-8136
    • 5172 Citations
    19952019
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    Fingerprint Dive into the research topics where Zosia Miedzybrodzka is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

    • 2 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
    Haplotypes Medicine & Life Sciences

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    Research Output 1995 2019

    3 Citations (Scopus)

    27 years of prenatal diagnosis for Huntington disease in the United Kingdom

    Piña-Aguilar, R. E., Simpson, S. A., Alshatti, A., Clarke, A., Craufurd, D., Dorkins, H., Doye, K., Lahiri, N., Lashwood, A., Lynch, C., Miller, C., Morton, S., O’Driscoll, M., Quarrell, O. W., Rae, D., Strong, M., Tomlinson, C., Turnpenny, P., Miedzybrodzka, Z. & UK HD Predictive Testing Consortium, Jul 2019, In : Genetics in Medicine. 21, p. 1639–1643 5 p.

    Research output: Contribution to journal › Article

    Preimplantation Diagnosis
    Huntington Disease
    Prenatal Diagnosis
    United Kingdom
    Neurodegenerative Diseases

    A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice

    Wadrup, F., Holden, S., MacLeod, R., Miedzybrodzka, Z., Németh, A. H., Owens, S., Pasalodos, S., Quarrell, O., Clarke, A. J. & on behalf of the UK Huntington’s Disease Predictive Testing Consortium, 19 Mar 2019, In : European Journal of Human Genetics. 27, p. 1215-1224 10 p.

    Research output: Contribution to journal › Article

    Huntington Disease
    Prenatal Diagnosis
    Pregnancy
    High-Risk Pregnancy
    Prenatal Care

    An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort

    Kerr, S. M., Klaric, L., Halachev, M., Hayward, C., Boutin, T. S., Meynert, A. M., Semple, C. A., Tuiskula, A. M., Swan, H., Santoyo-Lopez, J., Vitart, V., Haley, C., Dean, J., Miedzybrodzka, Z., Aitman, T. J. & Wilson, J. F., 29 Jul 2019, In : Scientific Reports. 9, 11 p., 10964.

    Research output: Contribution to journal › Article

    Open Access
    File
    Long QT Syndrome
    Haplotypes
    Sequence Analysis
    Research
    Population

    Genetics professionals’ experiences of facilitating parent/child communication through the genetic clinic

    Keenan, K. F., McKee, L. & Miedzybrodzka, Z., 16 Oct 2019, In : Journal of genetic counseling.

    Research output: Contribution to journal › Article

    Communication
    Disclosure
    Parents
    Health
    Uncertainty
    1 Citation (Scopus)

    Letter in Response to Tibben et al., Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners

    Quarrell, O. W., Delatycki, M. B., Clarke, A. J., Lahiri, N., Craufurd, D., Miedzybrodzka, Z., MacLeod, R., Renwick, P. & Tomlinson, C., 27 Aug 2019, In : Journal of Huntington's disease. 8, 3, p. 357-359 3 p.

    Research output: Contribution to journal › Letter

    Huntington Disease
    Alleles
    Penetrance