Research Output per year
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.
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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
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Research Output 1995 2019
2
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
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., 29 Jun 2019, In : Journal of Huntington's disease.Research output: Contribution to journal › Letter
1
Citation
(Scopus)
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
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