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  • 2020
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  • Zosia Miedzybrodzka
2020

Young-onset colorectal cancer in the North East of Scotland: survival, clinico- pathological features and genetics

Perrott, S., Laurie, K., Laws, K., Johnes, A., Miedzybrodzka, Z. & Samuel, L., 10 Feb 2020, In : BMC Cancer. 20, 108.

Research output: Contribution to journalArticle

Open Access
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1 Downloads (Pure)
2019

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 journalArticle

3 Citations (Scopus)

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 journalArticle

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 journalArticle

Open Access
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1 Downloads (Pure)

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 journalLetter

1 Citation (Scopus)
Open Access
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2 Citations (Scopus)
6 Downloads (Pure)
2018
Open Access
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8 Citations (Scopus)
2 Downloads (Pure)

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 journalArticle

3 Citations (Scopus)

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 journalArticle

Open Access
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6 Citations (Scopus)
5 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 journalArticle

Open Access
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2 Citations (Scopus)
7 Downloads (Pure)

The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population

Kay, C., Collins, J. A., Wright, G. E. B., Baine, F., Miedzybrodzka, Z., Aminkeng, F., Semaka, A. J., McDonald, C., Davidson, M., Madore, S. J., Gordon, E. S., Gerry, N. P., Cornejo-Olivas, M., Squitieri, F., Tishkoff, S., Greenberg, J. L., Krause, A. & Hayden, M. R., 30 Apr 2018, In : American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 177, 3, p. 346-357 12 p.

Research output: Contribution to journalArticle

16 Citations (Scopus)
2017

Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK

Kerr, M., Pears, R., Miedzybrodzka, Z., Haralambos, K., Cather, M., Watson, M. & Humphries, S. E., 14 Jun 2017, In : European Heart Journal. 38, 23, p. 1832-1839 8 p.

Research output: Contribution to journalArticle

Open Access
File
41 Citations (Scopus)
7 Downloads (Pure)

Gefitinib and EGFR Gene Copy Number Aberrations in Esophageal Cancer

Petty, R. D., Dahle-Smith, A., Stevenson, D. A. J., Osborne, A., Massie, D., Clark, C., Murray, G. I., Dutton, S. J., Roberts, C., Chong, I. Y., Mansoor, W., Thompson, J., Harrison, M., Chatterjee, A., Falk, S., Elyan, S., Garcia-Alonso, A., Fyfe, D. W., Wadsley, J., Chau, I. & 2 others, Ferry, D. & Miedzybrodzka, Z., Jul 2017, In : Journal of Clinical Oncology. 35, 20, p. 2279-2287 9 p.

Research output: Contribution to journalArticle

Open Access
33 Citations (Scopus)

Prevalence and architecture of de novo mutations in developmental disorders

Deciphering Developmental Disorders Study, 23 Feb 2017, In : Nature. 542, 7642, p. 433-438 6 p.

Research output: Contribution to journalArticle

371 Citations (Scopus)
2016

22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

UK Huntington’s Disease Prediction Consortium & Quarrell, O. W., Oct 2016, In : EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. . 24, 10, p. 1396-1402 7 p.

Research output: Contribution to journalArticle

Open Access
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22 Citations (Scopus)
13 Downloads (Pure)

Antibody deficiency in Rubinstein-Taybi syndrome

Herriot, R. & Miedzybrodzka, Z., Mar 2016, In : Clinical Genetics. 89, 3, p. 355-358 4 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2 Downloads (Pure)

Health Care Delivery Practices in Huntington's Disease Specialty Clinics: An International Survey

Frich, J. C., Rae, D., Roxburgh, R., Miedzybrodzka, Z. H., Edmondson, M., Pope, E. B., Goodman, L., Haddad, M. S., Giuliano, J., Nelson, E. C., Guttman, M. & Nance, M., 1 Jul 2016, In : Journal of Huntington's disease. 5, 2, p. 207-213 7 p.

Research output: Contribution to journalArticle

Open Access
File
10 Citations (Scopus)
5 Downloads (Pure)

Huntington disease reduced penetrance alleles occur at high frequency in the general population

Kay, C., Collins, J. A., Miedzybrodzka, Z., Madore, S. J., Gordon, E. S., Gerry, N., Davidson, M., Slama, R. A. & Hayden, M. R., Jul 2016, In : Neurology. 87, 3, p. 282-288 7 p.

Research output: Contribution to journalArticle

27 Citations (Scopus)