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The Institute of Medical Sciences

Professor Zofia Miedzybrodzka

Professor Zofia Miedzybrodzka
Professor Zofia Miedzybrodzka
Professor Zofia Miedzybrodzka

MB ChB, PhD, FRCP Edin, FRCOG

Personal Chair (Clinical)

About
Email Address
zosia@abdn.ac.uk
Telephone Number
+44 (0)1224 552120
Telephone Number
+44 (0)1224 437931
Office Address
Clinical Genetics Centre, Ashgrove House Aberdeen Royal Infirmary
Foresterhill Campus

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School/Department
School of Medicine, Medical Sciences and Nutrition
Personal Assistant
Personal Assistant
Miss Debbie Coutts
Personal Assistant Email Address
debbie.coutts@abdn.ac.uk
Personal Assistant Telephone Number
+44 (0)1224 437300

Biography

Zosia Miedzybrodzka studied medicine and trained as a clinical researcher and specialist genetics doctor at University of Aberdeen and with the NHS Grampian in the North of Scotland.

She uses the roles of service clinical director of NHS laboratory and clinical genetics in the north of Scotland, and honorary consultant clinical geneticist to deliver high quality impactful research in gene discovery, characterisation, clinical epidemiology and rigorous technology assessment. Her work is highly collaborative both locally, nationally and internationally and she has particular interests in evaluation of genomics, Huntington’s disease (HD) and prevention in hereditary cancer.

As chair of the Scottish genetics laboratories’ consortium she led NHS Scotland from testing for small panels of genes to exomes, with widespread cancer testing and beginnings of pharmacogenomics in everyday clinical practice and she led the NHS Scotland in 100,000 genomes project.

Recently her work on a breast and ovarian cancer gene, BRCA1, in Orkney came to public attention, leading to Woman and Home Magazine celebrating her as “Britain’s most amazing woman- Science Pioneer” for 2023.

Qualifications

  • PhD Clinical Medicine 
    1995 - University of Aberdeen 
  • MB ChB Medicine and Surgery 
    1988 - University of Aberdeen 
  • FRCP Edin Fellowship of Royal College of Physicians of Edinburgh 
    2008 - Royal College of Physicians of Edinburgh 
  • FRCOG Obstetrics and Gynaecology 
    2010 - Royal of Obstetricians and Gynaecologists 

Memberships and Affiliations

Internal Memberships

Centre for Genome-enabled Biology and Medicine

Institute of Medical Sciences

External Memberships

Service Clinical Director- Genetics & Honorary Consultant Clinical Geneticist NHS Grampian

Member: Scotland's rare disease strategy implementation board, RCP / RCPath Joint Committee for Genomics medicine, Association of Medical Royal Colleges Genomics professional partnerships board, Steering group Scottish Strategic Network for Genomic Medicine.

Prizes and Awards

Woman and Home Magazine “Britain’s most amazing women awards- Science Pioneer” 2023.

Research

Research Overview

Professor of Medical Genetics, University of Aberdeen

Honorary Consultant Clinical Geneticist, NHS Grampian

Service Clinical Director- Genetics, NHS Grampian

(NHS Grampian Genomics & Molecular Pathology Laboratory & North of Scotland Clinical Genetics Service)

 

Woman & Home Magazine “Britain’s Most Amazing Women Awards” – Science Pioneer 2023

Zosia Miedzybrodzka studied medicine at University of Aberdeen, graduating with commendation as best female student in 1988. Following basic medical training, she was awarded the prestigious Scottish Hospitals Endowments Research Trust Cruden research scholarship for 1990, then a three-year Wellcome grant during which she completed her University of Aberdeen PhD bringing genetics laboratory science, health services research and health economics to a randomised trial of approaches to population-based antenatal carrier screening for cystic fibrosis (CF). The programme not only established PCR based multiplex direct mutation testing in the Aberdeen NHS genetics laboratory, documented mutation frequencies in CF in northern Scotland, but also was also one of the first exemplars of the use of willingness to pay as a quantitative value-based measure of healthcare intervention which is now widespread in health technology assessment.

Zosia gained entry to higher specialist training in clinical genetics through MRCOG and was appointed clinical lecturer at University of Aberdeen in 1998.  Appointed senior lecturer and honorary consultant clinical geneticist through promotion she developed her research interests leading clinical epidemiology projects in haemochromatosis, pre-eclampsia, aetiology of clubfoot and description of riboflavin responsive multiple acyl co-A dehydrogenase, including the well cited implication of ETFDH as a major causative gene.

Since 2004, she has used the roles of service clinical director of NHS laboratory and clinical genetics in the north of Scotland, and honorary consultant clinical geneticist to deliver high quality impactful research in gene discovery, characterisation, clinical epidemiology and rigorous technology assessment. Her work is highly collaborative both locally, nationally and internationally.

She is an author on 176 peer-reviewed publications, h-index is 43, with 8496 citations despite much of her work being in individually rare diseases. She has been holder / co-holder of more than 105 research grants totally >£17,358,540, of which £2,394,356 are current.

Highlights of her work have been discovery of new mechanism for autism- deregulation of EIF4E, documentation of UK patterns of prenatal diagnosis and pre-implantation genetic diagnosis over 27 years, evaluation of clinical approaches to risk stratification in familial cancer, genetic basis of primary familial basal cell calcification, Bazex-Dupre-Christol syndrome, discovery of EGFR copy number as a biomarker for response to gefitinib in oesophageal cancer (guideline recommendation). Furthermore, Zosia is one of few UK clinical geneticists to act as a principal investigator in interventional trials in genetic disease including Huntington’s disease (HD) and prevention in hereditary cancer.

Beyond research, as chair of the Scottish clinical genetics forum and genetics laboratory consortium she led NHS Scotland from testing for small panels of genes to exomes and genomes, with widespread cancer testing and beginnings of pharmacogenomics in everyday clinical practice, with testing rate 25% ahead of other UK nations prior to dissolution of UK genetic testing network.

In 2007 she won the SPARKS research award for her work on clubfoot, and professional recognition of her research and clinical practice was recognised through election to Fellowship of Royal College of Physicians of Edinburgh as a non-membership candidate in 2007, with FRCOG in 2009.

The three key impacts she is most proud of are:

  • Services for Young People at risk of Huntington’s disease

Zosia’s team first described the devasting impact of growing up in a family with HD upon children and young people and demonstrated the need for specialised, age-appropriate education and support services. The work informed the development of new support services and educational materials for children and young people in Scotland and around the world, influencing the practice and training of healthcare professionals worldwide.

  • Chief Investigator NHS Scotland in 100,000 Genomes-

Within the umbrella of Scottish genomes partnership, Zosia led 4 universities, 4 health boards, 4 clinics, 4 NHS labs, University sequencing provider and IT infrastructure to work with Genomics England and NHS Scotland National Services Division to deliver a real-world rigorous evaluation of whole genome sequencing, giving results to >1500 patients, informing Scottish genomic policy.

  • Orkney BRCA1 gene variant-

Zosia recognised and documented a founder BRCA1 variant in her Orkney clinic. She worked with Jim Wilson and the ORCADES cohort to describe the population-based frequency of the first founder BRCA variant documented in a UK population, which arose in the remote isle of Westray in 1600s. She is now leading a pilot of population-based screening for the variant starting 3/7/23.

The publication of these findings in European Journal of Human Genetics drew worldwide media attention with >1.5 million BBC website hits overnight, two days of headline national news coverage, and was spread by 16 TV channels and 122 news outlets. Altmetric records the impact as already being the second most impactful paper ever in the journal. Testing for the variant has been proposed or those with Westray grandparents as standard of care in NHS Scotland and NHS England.  

 

This work led to Woman and Home Magazine recognising her “Britain’s most amazing woman- Science Pioneer” for 2023.

Publications

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  • Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis

    Qureshi, N., Woods, B., Neves de Faria, R., Saramago Goncalves, P., Cox, E., Leonardi Bee, J., Condon, L., Weng, S., Akyea, R. K., Iyen, B., Roderick, P., Humphries, S. E., Rowlands, W., Watson, M., Haralambos, K., Kenny, R., Datta, D., Miedzybrodzka, Z., Byrne, C., Kai, J.
    Health technology assessment (Winchester, England), vol. 27, no. 16, pp. 1-140
    Contributions to Journals: Articles

  • VIKING II, a worldwide observational cohort of volunteers with northern isles ancestry

    Kerr, S. M., Edwards, R., Buchanan, D., Dean, J., Miedzybrodzka, Z., Wilson, J. F.
    International Journal of Population Data Science, vol. 8, no. 1, 2121
    Contributions to Journals: Articles

  • Clinical case study meets population cohort: Identification of a BRCA1 pathogenic founder variant in Orcadians

    Kerr, S. M., Cowan, E., Klaric, L., Bell, C., O'Sullivan, D., Buchanan, D., Grzymsk, J. J., van Hout, C. V., Tzoneva, G., Shuldiner, A. R., Wilson, J. F., Miedzybrodzka, Z.
    European Journal of Human Genetics, vol. 31, pp. 588-595
    Contributions to Journals: Articles

  • Severe Hypertriglyceridaemia and Chylomicronaemia Syndrome: Causes, Clinical Presentation, and Therapeutic Options

    Bashir, B., Ho, J. H., Downie, P., Hamilton, P., Ferns, G., Datta, D., Cegla, J., Wierzbicki, A. S., Dawson, C., Jenkinson, F., Delaney, H., Mansfield, M., Teoh, Y., Miedzybrodzka, Z., Haso, H., Durrington, P. N., Soran, H.
    Metabolites, vol. 13, no. 5, 621
    Contributions to Journals: Articles

  • Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing: implications for future testing

    Hocking, L., Andrews, C., Armstrong, C., Ansari, M., Baty, D., Berg, J., Bradley, T., Clark, C., Diamond, A., Doherty, J., Lampe, A., McGowan, R., Moore, D. J., O'Sullivan, D., Purvis, A., Santoyo-Lopez, J., Westwood, P., Abbott, M., Williams, N., Scottish Genomes Partnership, Aitman, T. J., Miedzybrodzka, Z.
    European Journal of Human Genetics, vol. 31, no. 2, pp. 231-238
    Contributions to Journals: Articles

  • Understanding how educational interventions improve treatment adherence in patients with familial hypercholesterolaemia: a systematic review

    Massey, H., Jennings, B., Miedzybrodzka, Z.
    Journal of Community Genetics, vol. 14, no. 1, pp. 5-15
    Contributions to Journals: Articles

  • Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome

    Liu, Y., Banka, S., Huang, Y., Hardman-Smart, J., Pye, D., Torrelo, A., Beaman, G. M., Kazanietz, M. G., Baker, M. J., Ferrazzano, C., Shi, C., Orozco, G., Eyre, S., van Geel, M., Bygum, A., Fischer, J., Miedzybrodzka, Z., Abuzahra, F., Rübben, A., Cuvertino, S., Ellingford, J. M., Smith, M. J., Evans, D. G., Weppner-Parren, L. J. M. T., van Steensel, M. A. M., Chaudhary, I. H., Mangham, D. C., Lear, J. T., Paus, R., Frank, J., Newman, W. G., Zhang, X.
    British Journal of Dermatology, vol. 187, no. 6, pp. 948-961
    Contributions to Journals: Articles

  • Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes

    Loveday, C., Garrett, A., Law, P., Hanks, S., Poyastro-Pearson, E., Adlard, J. W., Barwell, J., Berg, J., Brady, A. F., Brewer, C., Chapman, C., Cook, J., Davidson, R., Donaldson, A., Douglas, F., Greenhalgh, L., Henderson, A., Izatt, L., Kumar, A., Lalloo, F., Miedzybrodzka, Z., Morrison, P. J., Paterson, J., Porteous, M., Rogers, M. T., Walker, L., Eccles, D., Evans, D. G., Snape, K., Hanson, H., Houlston, R. S., Turnbull, C., Breast and Ovarian Cancer Susceptibility Collaboration
    Annals of Oncology, vol. 33, no. 12, pp. 1318-1327
    Contributions to Journals: Articles

  • Feasibility and ethics of using data from the Scottish newborn blood spot archive for research

    Cunningham-Burley, S., McCartney, D. L., Campbell, A., Flaig, R., Orange, C. E. L., Porteous, C., Aitken, M., Mulholland, C., Davidson, S., McCafferty, S. M., Murphy, L., Wrobel, N., McCafferty, S., Wallace, K., St Clair, D., Kerr, S., Hayward, C., McIntosh, A. M., Sudlow, C., Marioni, R. E., Pell, J., Miedzybrodzka, Z., Porteous, D. J.
    Communications Medicine, vol. 2, 126
    Contributions to Journals: Articles

  • Continuing the sequence?: Towards an Economic Evaluation of Whole Genome Sequencing for the Diagnosis of Rare Diseases in Scotland

    Abbott, M., McKenzie, L., Moran, B., Heidenreich, S., Hernández, R., Hocking- Mennie, L., Clark, C., Clark, C., Gomes, J., Lampe, A., Baty, D., McGowan, R., Miedzybrodzka, Z., Ryan, M.
    Journal of Community Genetics, vol. 13, pp. 487-501
    Contributions to Journals: Articles

  • Analysis of the Clinical Advancements for BRCA-Related Malignancies Highlights the Lack of Treatment Evidence for BRCA-Positive Male Breast Cancer

    McClurg, D. P., Urquhart, G., McGoldrick, T., Chatterji, S., Miedzybrodzka, Z., Speirs, V., Elsberger, B.
    Cancers, vol. 14, no. 13, 3175
    Contributions to Journals: Articles

  • Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

    Maher, E. R., Adlard, J., Barwell, J., Brady, A. F., Brennan, P., Cook, J., Crawford, G. S., Dabir, T., Davidson, R., Dyer, R., Harrison, R., Forde, C., Halliday, D., Hanson, H., Hay, E., Higgs, J., Jones, M., Lalloo, F., Miedzybrodzka, Z., Ong, K. R., Pelz, F., Ruddy, D., Snape, K., Whitworth, J., Sandford, R. N.
    British Journal of Cancer, vol. 126, pp. 1339–1345
    Contributions to Journals: Articles

  • The known burden of Huntington disease in the north of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular era

    Kounidas, G., Cruickshank, H., Kastora, S., Sihlabela, S., Miedzybrodzka, Z.
    Journal of Neurology, vol. 268, pp. 4170-4177
    Contributions to Journals: Articles

  • Huntington's disease: northern Scotland has one of the world's highest rates and rising sharply - here's why

    Miedzybrodzka, Z.
    Contributions to Specialist Publications

  • Creation and Worldwide Utilisation of New COVID-19 Online Information Hub for Genetics Health Professionals, Patients and Families

    Tobias, A. P., Berg, J., Cetnarskyj, R., Miedzybrodzka, Z., Porteous, M. E., Tobias, E. S.
    Frontiers in Genetics, vol. 12, 621683
    Contributions to Journals: Articles

  • Optimized EGFR Blockade Strategies in EGFR Addicted Gastroesophageal Adenocarcinomas

    Corso, S., Pietrantonio, F., Apicella, M., Migliore, C., Conticelli, D., Petrelli, A., D'Errico, L., Durando, S., Moya-Rull, D., Bellomo, S. E., Ughetto, S., Degiuli, M., Reddavid, R., Fumagalli, U., De Pascale, S., Sgroi, G., Rausa, E., Baiocchi, G. L., Molfino, S., De Manzoni, G., Bencivenga, M., Siena, S., Sartore-Bianchi, A., Morano, F., Corallo, S., Prisciandaro, M., Di Bartolomeo, M., Gloghini, A., Marsoni, S., Sottile, A., Sapino, A., Marchio, C., Dahle-Smith, A., Miedzybrodzka, Z., Lee, J., Ali, S. M., Ross, J. S., Alexander, B. M., Miller, V. A., Petty, R., Schrock, A. B., Giordano, S.
    Clinical Cancer Research, vol. 27, no. 11, pp. 3126-3140
    Contributions to Journals: Articles

  • A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

    Coignard, J., Gregory, H., Miedzybrodzka, Z., Lush, M., Beesley, J., O'Mara, T. A., Dennis, J., Tyrer, J. P., Barnes, D. R., McGuffog, L., Leslie, G., Bolla, M. K., Adank, M. A., Agata, S., Ahearn, T., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arnold, N., Aronson, K. J., Arun, B. K., Augustinsson, A., Azzollini, J., Barrowdale, D., Baynes, C., Becher, H., Bermisheva, M., Bernstein, L., Bialkowska, K., Blomqvist, C., Bojesen, S. E., Bonanni, B., Borg, A., Brauch, H., Brenner, H., Burwinkel, B., Buys, S. S., Caldes, T., Caligo, M. A., Campa, D., Carter, B. D., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Chung, W. K., Claes, K., Clarke, C. L., Collée, J. M., Conroy, D. M., GEMO Study Collaborators, EMBRACE Collaborators, HEBON Investigators, ABCTB Investigators
    Nature Communications, vol. 12, 1078
    Contributions to Journals: Articles

  • Interactions between anti-EGFR therapies and cytotoxic chemotherapy in oesophageal squamous cell carcinoma: why clinical trials might have failed and how they could succeed

    Meemanage, M., Spender, L. C., Collinson, D., Iannetta, J., Challapalli, P., Turbitt, J., Clark, C., Baxter, M., Murray, G., Walsh, S., Miedzybrodzka, Z., Petty, R. D.
    Cancer Chemotherapy and Pharmacology, vol. 87, pp. 361–377
    Contributions to Journals: Articles

  • Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

    Steinthorsdottir, V., McGinnis, R., Williams, N. O., Stefansdottir, L., Thorleifsson, G., Shooter, S., Fadista, J., Sigurdsson, J. K., Auro, K. M., Berezina, G., Borges, M. C., Bumpstead, S., Bybjerg-Grauholm, J., Colgiu, I., Dolby, V. A., Dudbridge, F., Engel, S. M., Franklin, C. S., Frigge, M. L., Frisbaek, Y., Geirsson, R. T., Geller, F., Gretarsdottir, S., Gudbjartsson, D. F., Harmon, Q., Hougaard, D. M., Hegay, T., Helgadottir, A., Hjartardottir, S., Jääskeläinen, T., Johannsdottir, H., Jonsdottir, I., Juliusdottir, T., Kalsheker, N., Kasimov, A., Kemp, J. P., Kivinen, K., Klungsøyr, K., Lee, W. K., Melbye, M., Miedzybrodska, Z., Moffett, A., Najmutdinova, D., Nishanova, F., Olafsdottir, T., Perola, M., Pipkin, F. B., Poston, L., Prescott, G., Saevarsdottir, S., Salimbayeva, D., Scaife, P. J., Skotte, L., Staines-Urias, E., Stefansson, O. A., Sørensen, K. M., Vestrheim Thomsen, L. C., Tragante, V., Trogstad, L., Simpson, N. A. B., FINNPEC Consortium, GOPEC Consortium, Aripova, T., Casas, J. P., Dominiczak, A., Walker, J. J., Thorsteinsdottir, U., Iversen, A., Feenstra, B., Lawlor, D. A., Boyd, H. A., Magnus, P., Laivuori, H., Zakhidova, N., Svyatova, G., Stefansson, K., Morgan, L.
    Nature Communications, vol. 11, no. 1, 5976
    Contributions to Journals: Articles

  • 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.
    BMC Cancer, vol. 20, 108
    Contributions to Journals: Articles

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

    Keenan, K. F., McKee, L., Miedzybrodzka, Z.
    Journal of genetic counseling, vol. 29, no. 1, pp. 44-55
    Contributions to Journals: Articles

  • 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.
    Journal of Huntington's disease, vol. 8, no. 3, pp. 357-359
    Contributions to Journals: Letters

  • 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.
    Scientific Reports, vol. 9, 10964
    Contributions to Journals: Articles

  • 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
    Genetics in Medicine, vol. 21, pp. 1639–1643
    Contributions to Journals: Articles

  • Clinical and genetic characteristics of late-onset Huntington's disease

    Oosterloo, M., Bijlsma, E. K., van Kuijk, S. M., Minkels, F., de Die-Smulders, C. E., REGISTRY Investigators of the European Huntington's Disease Network, Bachoud-Lévi, A. C., Bentivoglio, A. R., Biunno, I., Bonelli, R. M., Bronzova, J., Burgunder, J. M., Dunnett, S. B., Ferreira, J. J., Frich, J., Giuliano, J., Handley, O. J., Heiberg, A., Illarioshkin, S., Illmann, T., Klempir, J., Landwehrmeyer, G. B., Levey, J., McLean, T., Nielsen, J. E., Koivisto, S. P., Päivärinta, M., Pålhagen, S., Quarrell, O., Ramos-Arroyo, M., Roos, R. A., Saft, C., Sebastián, A. R., Tabrizi, S. J., Vandenberghe, W., Verellen-Dumoulin, C., Uhrova, T., Wahlström+, J., Zaremba, J., Barth, K., Garde, M. B., Becanovic, K., Bernard, T., Betz, S., Bos, R., Jack, R., Matheson, K., Miedzybrodzka, Z., Rae, D., Simpson, S. A., Summers, F.
    Parkinsonism and Related Disorders, vol. 61, pp. 101-105
    Contributions to Journals: Articles

  • 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
    European Journal of Human Genetics, vol. 27, pp. 1215-1224
    Contributions to Journals: Articles

  • 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.
    Journal of Community Genetics, vol. 10, no. 1, pp. 129-141
    Contributions to Journals: Articles

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

    Blok, L. S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., Cohen, A. S. A., Agbahovbe, R., Innes, A. M., Au, P. Y. B., Rankin, J., Anderson, I. J., Skinner, S. A., Louie, R. J., Warren, H. E., Afenjar, A., Keren, B., Nava, C., Buratti, J., Isapof, A., Rodriguez, D., Lewandowski, R., Propst, J., van Essen, T., Choi, M., Lee, S., Chae, J. H., Price, S., Schnur, R. E., Douglas, G., Wentzensen, I. M., Zweier, C., Reis, A., D'Alessandro, M., Dean, J., Miedzybrodzka, Z., Ross, A., DDD Study
    Nature Communications, vol. 9, 4619
    Contributions to Journals: Articles

  • 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.
    BJOG-An International Journal of Obstetrics and Gynaecology, vol. 125, no. 11, pp. 1451-1458
    Contributions to Journals: Articles

  • 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.
    American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, vol. 177, no. 3, pp. 346-357
    Contributions to Journals: Articles

  • 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.
    Development, vol. 145, no. 3, dev160093
    Contributions to Journals: Articles

  • 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.
    American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, vol. 177, no. 1, pp. 35 - 39
    Contributions to Journals: Articles

  • Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

    McNulty, P., Ramesh, R., Necuiniate, R., Hughes, A., Farewell, D., Holmans, P., Jones, L., Bonelli, R. M., Hecht, K., Herranhof, B., Holl, A., Kapfhammer, H. P., Koppitz, M., Lilek, S., Magnet, M., Müller, N., Otti, D., Painold, A., Reisinger, K., Scheibl, M., Schöggl, H., Ullah, J., Braunwarth, E. M., Brugger, F., Buratti, L., Hametner, E. M., Hepperger, C., Holas, C., Hotter, A., Hussl, A., Larcher, B., Mahlknecht, P., Müller, C., Pinter, B., Poewe, W., Reiter, E. M., Seppi, K., Sprenger, F., Wenning, G., Ladurner, G., Lilek, S., Sinadinosa, D., Staffen, W., Walleczek, A. M., Jack, R., Matheson, K., Miedzybrodzka, Z., Rae, D., Simpson, S. A., Summers, F., REGISTRY Investigators of the European Huntington's Disease Network
    Journal of Huntington's disease, vol. 7, no. 3, pp. 209-222
    Contributions to Journals: Articles

  • Cognitive decline in Huntington's disease expansion gene carriers

    Baake, V., Reijntjes, R. H., Dumas, E. M., Thompson, J. C., REGISTRY Investigators of the European Huntington's Disease Network, Roos, R. A., Bentivoglio, A. R., Biunno, I., Bronzova, J., Dunnett, S. B., Frich, J., Giuliano, J., Illarioshkin, S., Illmann, T., Klempír, J., Landwehrmeyer, G. B., Levey, J., McLean, T., Nielsen, J. E., Päivärinta, M., Pålhagen, S., Tabrizi, S. J., Vandenberghe, W., Uhrova, T., Bernard, T., Betz, S., Come, A., Capodarca, S., Wildson, S. C., Da Silva, V., Di Renzo, M., Finisterra, A. M., Fullam, R., Genoves, C., Gilling, M., Handley, O. J., Hvalstedt, C., Koppers, K., Lamanna, C., Laurà, M., Descals, A. M., Münkel, K., Mütze, L., Oehmen, M., Padieu, H., Jack, R., Matheson, K., Miedzybrodzka, Z., Rae, D., Simpson, S. A., Summers, F.
    Cortex, vol. 95, pp. 51-62
    Contributions to Journals: Articles

  • 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., Ferry, D. R., Miedzybrodzka, Z.
    Journal of Clinical Oncology, vol. 35, no. 20, pp. 2279-2287
    Contributions to Journals: Articles

  • 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.
    European Heart Journal, vol. 38, no. 23, pp. 1832-1839
    Contributions to Journals: Articles

  • Prevalence and architecture of de novo mutations in developmental disorders

    Miedzybrodzka, Z., Deciphering Developmental Disorders Study
    Nature, vol. 542, no. 7642, pp. 433-438
    Contributions to Journals: Articles

  • Variants in the fetal genome near FLT1 are associated with risk of preeclampsia

    McGinnis, R., Steinthorsdottir, V., Williams, N. O., Thorleifsson, G., Shooter, S., Hjartardottir, S., Bumpstead, S., Stefansdottir, L., Hildyard, L., Sigurdsson, J. K., Kemp, J. P., Silva, G. B., Thomsen, L. C. V., Jääskeläinen, T., Kajantie, E., Chappell, S., Kalsheker, N., Moffett, A., Hiby, S., Lee, W. K., Padmanabhan, S., Simpson, N. A. B., Dolby, V. A., Staines-Urias, E., Engel, S. M., Haugan, A., Trogstad, L., Svyatova, G., Zakhidova, N., Najmutdinova, D., FINNPEC Consortium, The GOPEC Consortium, Dominiczak, A. F., Gjessing, H. K., Casas, J. P., Dudbridge, F., Walker, J. J., Pipkin, F. B., Thorsteinsdottir, U., Geirsson, R. T., Lawlor, D. A., Iversen, A., Magnus, P., Laivuori, H., Stefansson, K., Morgan, L., Miedzybrodzka, Z.
    Nature Genetics, vol. 49, pp. 1255-1260
    Contributions to Journals: Letters

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

    Baig, S. S., Strong, M., Rosser, E., Taverner, N. V., Glew, R., Miedzybrodzka, Z. H., Clarke, A., Craufurd, D., UK Huntington’s Disease Prediction Consortium, Quarrell, O. W.
    EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. , vol. 24, no. 10, pp. 1396-1402
    Contributions to Journals: Articles

  • 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.
    Journal of Huntington's disease, vol. 5, no. 2, pp. 207-213
    Contributions to Journals: Articles

  • 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.
    Neurology, vol. 87, no. 3, pp. 282-288
    Contributions to Journals: Articles

  • Antibody deficiency in Rubinstein-Taybi syndrome

    Herriot, R., Miedzybrodzka, Z.
    Clinical Genetics, vol. 89, no. 3, pp. 355-358
    Contributions to Journals: Articles

  • Mutation of genes controlling mRNA metabolism and protein synthesis predisposes to neurodevelopmental disorders

    Sartor, F., Anderson, J., McCaig, C., Miedzybrodzka, Z., Müller, B.
    Biochemical Society Transactions, vol. 43, no. 6, pp. 1259-1265
    Contributions to Journals: Articles

  • Epidermal Growth Factor (EGFR) copy number aberrations in esophageal and gastro-esophageal junctional carcinoma

    Dahle-Smith, A., Stevenson, D., Massie, D., Murray, G. I., Dutton, S. J., Roberts, C., Ferry, D., Osborne, A., Clark, C., Petty, R. D., Miedzybrodzka, Z.
    Molecular Cytogenetics , vol. 8, 78
    Contributions to Journals: Articles

  • Help or hindrance: young people's experiences of predictive testing for Huntington's disease

    Keenan, K., McKee, L., Miedzybrodzka, Z.
    Clinical Genetics, vol. 87, no. 6, pp. 563-569
    Contributions to Journals: Articles

  • Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

    Legati, A., Giovannini, D., Nicolas, G., López-Sánchez, U., Quintáns, B., Oliveira, J. R. M., Sears, R. L., Ramos, E. M., Spiteri, E., Sobrido, M., Carracedo, ?., Castro-Fernández, C., Cubizolle, S., Fogel, B. L., Goizet, C., Jen, J. C., Kirdlarp, S., Lang, A. E., Miedzybrodzka, Z., Mitarnun, W., Paucar, M., Paulson, H., Pariente, J., Richard, A., Salins, N. S., Simpson, S. A., Striano, P., Svenningsson, P., Tison, F., Unni, V. K., Vanakker, O., Wessels, M. W., Wetchaphanphesat, S., Yang, M., Boller, F., Campion, D., Hannequin, D., Sitbon, M., Geschwind, D. H., Battini, J., Coppola, G.
    Nature Genetics, vol. 47, no. 6, pp. 579-581
    Contributions to Journals: Articles

  • Full UPF3B function is critical for neuronal differentiation of neural stem cells

    Alrahbeni, T., Sartor, F., Anderson, J., Miedzybrodzka, Z., McCaig, C., Muller, B.
    Molecular brain, vol. 8, 33
    Contributions to Journals: Articles

  • Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

    Michailidou, K., Beesley, J., Lindstrom, S., Canisius, S., Dennis, J., Lush, M. J., Maranian, M. J., Bolla, M. K., Wang, Q., Shah, M., Perkins, B. J., Czene, K., Eriksson, M., Darabi, H., Brand, J. S., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Nielsen, S. F., Rahman, N., Turnbull, C., Fletcher, O., Peto, J., Gibson, L., dos-Santos-Silva, I., Chang-Claude, J., Flesch-Janys, D., Rudolph, A., Eilber, U., Behrens, S., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Khan, S., Aaltonen, K., Ahsan, H., Kibriya, M. G., Whittemore, A. S., John, E. M., Malone, K. E., Gammon, M. D., Santella, R. M., Ursin, G., Makalic, E., Schmidt, D. F., Casey, G., Hunter, D. J., Zheng, W., BOCS, Miedzybrodzka, Z. H.
    Nature Genetics, vol. 47, no. 4, pp. 373-380
    Contributions to Journals: Letters

  • Identification of six new susceptibility loci for invasive epithelial ovarian cancer

    Kuchenbaecker, K. B., Ramus, S. J., Tyrer, J., Lee, A., Shen, H. C., Beesley, J., Lawrenson, K., McGuffog, L., Healey, S., Lee, J. M., Spindler, T. J., Lin, Y. G., Pejovic, T., Bean, Y., Li, Q., Coetzee, S., Hazelett, D., Miron, A., Southey, M., Terry, M. B., Goldgar, D. E., Buys, S. S., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Neuhausen, S. L., Ding, Y. C., Hansen, T. V. O., Jønson, L., Gerdes, A., Ejlertsen, B., Barrowdale, D., Dennis, J., Benitez, J., Osorio, A., Garcia, M. J., Komenaka, I., Weitzel, J. N., Ganschow, P., Peterlongo, P., Bernard, L., Viel, A., Bonanni, B., Peissel, B., Manoukian, S., Radice, P., Papi, L., Ottini, L., Zheng, W., EMBRACE, Miedzybrodzka, Z. H.
    Nature Genetics, vol. 47, no. 2, pp. 164-171
    Contributions to Journals: Letters

  • Performance of the 12-item WHODAS 2.0 in prodromal Huntington disease

    Kim, J., Long, J. D., Mills, J. A., Downing, N., Williams, J. K., Paulsen, J. S., PREDICT-HD Investigators And Coordinators Of The Huntington Study Group, Miedzybrodzka, Z. H.
    EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. , vol. 23, no. 11, pp. 1584-1587
    Contributions to Journals: Articles

  • Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

    Kuchenbaecker, K. B., Neuhausen, S. L., Robson, M., Barrowdale, D., McGuffog, L., Mulligan, A. M., Andrulis, I. L., Spurdle, A. B., Schmidt, M. K., Schmutzler, R. K., Engel, C., Wappenschmidt, B., Nevanlinna, H., Thomassen, M., Southey, M., Radice, P., Ramus, S. J., Domchek, S. M., Nathanson, K. L., Lee, A., Healey, S., Nussbaum, R. L., Rebbeck, T. R., Arun, B. K., James, P., Karlan, B. Y., Lester, J., Cass, I., Terry, M. B., Daly, M. B., Goldgar, D. E., Buys, S. S., Janavicius, R., Tihomirova, L., Tung, N., Dorfling, C. M., van Rensburg, E. J., Steele, L., v O Hansen, T., Ejlertsen, B., Gerdes, A., Nielsen, F. C., Dennis, J., Cunningham, J., Hart, S., Slager, S., Osorio, A., Benitez, J., Duran, M., Breast Cancer Family Registry, Miedzybrodzka, Z. H.
    Breast Cancer Research, vol. 16, no. 6, 3416
    Contributions to Journals: Articles

  • Prediction of manifest Huntington's disease with clinical and imaging measures: a prospective observational study

    Paulsen, J. S., Long, J. D., Ross, C. A., Harrington, D. L., Erwin, C. J., Williams, J. K., Westervelt, H. J., Johnson, H. J., Aylward, E. H., Zhang, Y., Bockholt, H. J., Barker, R. A., PREDICT-HD Investigators And Coordinators Of The Huntington Study Group, Miedzybrodzka, Z. H.
    The Lancet neurology, vol. 13, no. 12, pp. 1193-1201
    Contributions to Journals: Articles

  • Common genetic variants on 1p13.2 associate with risk of autism

    Xia, K., Guo, H., Xun, G., Zuo, L., Peng, Y., He, Y., Xiong, Z., Sun, L., Pan, Q., Long, Z., Zou, X., Lu, L., Liu, Y., Tian, D., Long, L., Liu, Y., Peng, H., Luo, X., Su, W., Liang, D., Dai, H., Yan, X., Feng, Y., Tang, B., Miedzybrodzka, Z., Xia, J., Zhang, Z., Luo, X., Zhang, X., St Clair, D., Zhao, J., Zhang, F.
    Molecular Psychiatry, vol. 19, no. 11, pp. 1212-1219
    Contributions to Journals: Articles

  • The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

    Evans, D. G. R., Barwell, J., Eccles, D. M., Collins, A., Izatt, L., Jacobs, C., Donaldson, A., Brady, A. F., Cuthbert, A., Harrison, R., Thomas, S., Howell, A., Miedzybrodzka, Z., Murray, A., The FH02 Study Group
    Breast Cancer Research, vol. 16, no. 5, 442
    Contributions to Journals: Articles

  • Genetic Discrimination and Predictive Testing for Huntington’s Disease and Familial Cancer in Northern Scotland: The I-Respond-UK Study

    Wedderburn, S., Rae, D., Williams, J., Carey-Heaton, R., Miedzybrodzka, Z.
    8th European-Huntington's-Disease-Network Plenary Meeting, pp. A80-A80
    Contributions to Journals: Abstracts

  • How to Improve Young People's Experiences of Predictive Testing for Huntington's Disease

    Keenan, K. F., McKee, L., Miedzybrodzka, Z.
    8th European-Huntington's-Disease-Network Plenary Meeting, pp. A79-A79
    Contributions to Journals: Abstracts

  • Shaping The Huntington’s Disease Journey: A Managed Care Pathway For Scotland

    Rae, D., Eden, J., Miedzybrodzka, Z., Scottish Huntington's Assoc
    8th European-Huntington's-Disease-Network Plenary Meeting, pp. A84-A84
    Contributions to Journals: Abstracts

  • Understanding the Health Care Experiences and needs of People Living with Huntingtons Disease (HD): An Exploratory Study

    Rae, D., McCann, S., Miedzybrodzka, Z.
    8th European-Huntington's-Disease-Network Plenary Meeting, pp. A83-A83
    Contributions to Journals: Abstracts

  • GATA4 mutations are a cause of neonatal and childhood-onset diabetes

    Shaw-Smith, C., De Franco, E., Allen, H. L., Batlle, M., Flanagan, S. E., Borowiec, M., Taplin, C. E., van Alfen-van der Velden, J., Cruz-Rojo, J., Perez de Nanclares, G., Miedzybrodzka, Z., Deja, G., Wlodarska, I., Mlynarski, W., Ferrer, J., Hattersley, A. T., Ellard, S.
    Diabetes, vol. 63, no. 8, pp. 2888-2894
    Contributions to Journals: Articles

  • Lymphocyte Telomere Length Is Long in BRCA1 and BRCA2 Mutation Carriers Regardless of Cancer-Affected Status

    Pooley, K. A., McGuffog, L., Barrowdale, D., Frost, D., Ellis, S. D., Fineberg, E., Platte, R., Izatt, L., Adlard, J., Bardwell, J., Brewer, C., Cole, T., Cook, J., Davidson, R., Donaldson, A., Dorkins, H., Douglas, F., Eason, J., Houghton, C., Kennedy, M. J., McCann, E., Miedzybrodzka, Z., Murray, A., Porteous, M. E., Rogers, M. T., Side, L. E., Tischkowitz, M., Walker, L., Hodgson, S., Eccles, D. M., Morrison, P. J., Evans, D. G., Eeles, R. A., Antoniou, A. C., Easton, D. F., Dunning, A. M., EMBRACE
    Cancer Epidemiology, Biomarkers and Prevention, vol. 23, no. 6, pp. 1018-1024
    Contributions to Journals: Articles

  • Epidermal growth factor receptor copy number gain (EGFR CNG) and response to gefitinib in esophageal cancer (EC): Results of a biomarker analysis of a phase Ill trial of gefitinib versus placebo (TRANS-COG).

    Petty, R. D., Dahle-Smith, A., Miedzybrodzka, Z., Dutton, S. J., Murray, G. I., Stevenson, D., Massie, D., Osbourne, A., Clark, C., Mansoor, W., Thompson, J., Harrison, M., Chatterjee, A., Falk, S., Elyan, S., Garcia-Alonso, A., Fyfe, D. W., Chau, I., Collinson, D., Ferry, D.
    50th Annual Meeting of the American-Society-of-Clinical-Oncology
    Contributions to Journals: Abstracts

  • Regionally selective atrophy of subcortical structures in prodromal HD as revealed by statistical shape analysis

    Younes, L., Ratnanather, J. T., Brown, T., Aylward, E., Nopoulos, P., Johnson, H., Magnotta, V. A., Paulsen, J. S., Margolis, R. L., Albin, R. L., Miller, M. I., Ross, C. A., Wassink, T., Cross, S., Kimble, M., Ryan, P., Epping, E. A., Chiu, E., Yastrubetskaya, O., Preston, J., Goh, A., Psych, D., Antonopoulos, S., Loi, S., Chua, P., Komiti, A., Raymond, L., Decolongon, J., Varvaris, M., Mallonee, W. M., Suter, G., Samii, A., Macaraeg, A., Jones, R., Wood-Siverio, C., Factor, S. A., Testa, C., Barker, R. A., Mason, S., McCusker, E., Griffith, J., Loy, C., Gunn, D., Orth, M., Sübmuth, S., Barth, K., Trautmann, S., Miedzybrodzka, Z., Rae, D., Matheson, K., PREDICT-HD Investigators And Coordinators Of The Huntington Study Group
    Human Brain Mapping, vol. 35, no. 3, pp. 792-809
    Contributions to Journals: Articles

  • Suicidal ideation in a European Huntington's disease population

    Hubers, A. A. M., van Duijn, E., Roos, R. A. C., Craufurd, D., Rickards, H., Bernhard Landwehrmeyer, G., van der Mast, R. C., Giltay, E. J., REGISTRY Investigators of the European Huntington's Disease Network, Miedzybrodzka, Z. H.
    Journal of Affective Disorders, vol. 151, no. 1, pp. 248-58
    Contributions to Journals: Articles

  • Cognitive reserve and brain reserve in prodromal Huntington's disease

    Bonner-Jackson, A., Long, J. D., Westervelt, H., Tremont, G., Aylward, E., Paulsen, J. S., PREDICT-HD Investigators And Coordinators Of The Huntington Study Group, Miedzybrodzka, Z. H.
    Journal of the International Neuropsychological Society, vol. 19, no. 7, pp. 739-750
    Contributions to Journals: Articles

  • The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

    Metzger, S., Walter, C., Riess, O., Roos, R. A. C., Nielsen, J. E., Craufurd, D., Nguyen, H. P., REGISTRY Investigators of the European Huntington's Disease Network, Miedzybrodzka, Z. H.
    PloS ONE, vol. 8, no. 7, e68951
    Contributions to Journals: Articles

  • Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE

    Mavaddat, N., Peock, S., Frost, D., Ellis, S., Platte, R., Fineberg, E., Evans, D. G., Izatt, L., Eeles, R. A., Adlard, J., Davidson, R., Eccles, D., Cole, T., Cook, J., Brewer, C., Tischkowitz, M., Douglas, F., Hodgson, S., Walker, L., Porteous, M. E., Morrison, P. J., Side, L. E., Kennedy, M. J., Houghton, C., Donaldson, A., Rogers, M. T., Dorkins, H., Miedzybrodzka, Z., Gregory, H., Eason, J., Barwell, J., McCann, E., Murray, A., Antoniou, A. C., Easton, D. F., EMBRACE
    Journal of the National Cancer Institute, vol. 105, no. 11, pp. 812-822
    Contributions to Journals: Articles

  • How Do Partners Find out About the Risk of Huntington's Disease in Couple Relationships?

    Keenan, K., Simpson, S. A., Miedzybrodzka, Z., Alexander, D. A., Semper, J.
    Journal of genetic counseling, vol. 22, no. 3, pp. 336-344
    Contributions to Journals: Articles

  • Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Hsu, S. C., Sears, R. L., Lemos, R. R., Quintans, B., Huang, A., Spiteri, E., Nevarez, L., Mamah, C., Zatz, M., Pierce, K. D., Fullerton, J. M., Adair, J. C., Berner, J. E., Bower, M., Brodaty, H., Carmona, O., Dobricic, V., Fogel, B. L., Garcia-Estevez, D., Goldman, J., Goudreau, J. L., Hopfer, S., Jankovic, M., Jauma, S., Jen, J. C., Kirdlarp, S., Klepper, J., Kostic, V., Lang, A. E., Linglart, A., Maisenbacher, M. K., Manyam, B. V., Mazzoni, P., Miedzybrodzka, Z., Mitarnun, W., Mitchell, P. B., Mueller, J., Novakovic, I., Paucar, M., Paulson, H., Simpson, S. A., Svenningsson, P., Tuite, P., Vitek, J., Wetchaphanphesat, S., Williams, C., Yang, M., Schofield, P. R., de Oliveira, J. R. M., Sobrido, M., Geschwind, D. H., Coppola, G.
    Neurogenetics, vol. 14, no. 1, pp. 11-22
    Contributions to Journals: Articles

  • 3D MRI analysis of the lower legs of treated idiopathic congenital talipes equinovarus (clubfoot)

    Duce, S. L., D'Alessandro, M., Du, Y., Jagpal, B., Gilbert, F. J., Crichton, L., Barker, S., Collinson, J. M., Miedzybrodzka, Z.
    PloS ONE, vol. 8, no. 1, e54100
    Contributions to Journals: Articles

  • Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

    Ruark, E., Snape, K., Humburg, P., Loveday, C., Bajrami, I., Brough, R., Rodrigues, D. N., Renwick, A., Seal, S., Ramsay, E., Duarte, S. D. V., Rivas, M. A., Warren-Perry, M., Zachariou, A., Campion-Flora, A., Hanks, S., Murray, A., Pour, N. A., Douglas, J., Gregory, L., Rimmer, A., Walker, N. M., Yang, T., Adlard, J. W., Barwell, J., Berg, J., Brady, A. F., Brewer, C., Brice, G., Chapman, C., Cook, J., Davidson, R., Donaldson, A., Douglas, F., Eccles, D., Evans, D. G., Greenhalgh, L., Henderson, A., Izatt, L., Kumar, A., Lalloo, F., Miedzybrodzka, Z., Morrison, P. J., Paterson, J., Porteous, M., Rogers, M. T., Shanley, S., Walker, L., Gore, M., Todd, J. A., Breast and Ovarian Cancer Susceptibility Collaboration
    Nature, vol. 493, no. 7432, pp. 406-410
    Contributions to Journals: Articles

  • High sensitivity detection of epidermal growth factor receptor (EGFR) T790M mutants in non-small-cell lung cancer

    Tracey, J., Clark, C., Bell, C., Kerr, K. M., Nicolson, M., Miedzybrodzka, Z., Kelly, K.
    Lung Cancer, vol. 79, no. Supplement 1, pp. S7-S8
    Contributions to Journals: Abstracts

  • Challenges in conducting a systematic review of the diagnostic accuracy of genetic tests: an example of the genetic diagnosis of familial hypercholesterolaemia

    Sharma, P., Mowatt, G., Stewart, F., Boachie, C., Miedzybrodzka, Z., Simpson, W., Boyers, D., Kilonzo, M. M., McNamee, P.
    Cochrane Colloquium
    Contributions to Conferences: Posters

  • Development of the huntington disease work function scale

    Brossman, B., Williams, J. K., Downing, N., Mills, J. A., Paulsen, J. S., PREDICT-HD Investigators And Coordinators Of The Huntington Study Group, Miedzybrodzka, Z.
    Journal of Occupational and Environmental Medicine, vol. 54, no. 10, pp. 1300-1308
    Contributions to Journals: Articles

  • A nationwide screening programme for familial hypercholesterolaemia in Scotland using existing services

    Miedzybrodzka, Z., Bell, C., Boyers, D., Brown, C., Kelly, K., Tennant, S., Walker, S., Finnie, R., van Mourik, M., Pearson, P., Slater, S., Berg, J., Hailey, H., Gregory, H., Simpson, W.
    British Human Genetics Conference, pp. S115
    Contributions to Journals: Abstracts

  • Depressive symptom severity is related to poorer cognitive performance in prodromal Huntington disease

    Smith, M. M., Mills, J. A., Epping, E. A., Westervelt, H. J., Paulsen, J. S., PREDICT-HD Investigators of the Huntington Study Group, Miedzybrodzka, Z.
    Neuropsychology, vol. 26, no. 5, pp. 664-669
    Contributions to Journals: Articles

  • Fostering, adoption and Huntington's disease: improving clients' experience

    Keenan, K. F., Miedzybrodzka, Z., Eden, J.
    Plenary Meeting of the European-Huntington's-Disease-Network (EHDN), pp. A50
    Contributions to Journals: Abstracts

  • Prenatal diagnosis for Huntington's disease: a generation of testing

    Miedzybrodzka, Z., Rae, D., Matheson, K., Glew, R., Lashwood, A., Simpson, S.
    British Human Genetics Conference, pp. S69
    Contributions to Journals: Abstracts

  • Is PATCHED an important candidate gene for neural tube defects?: Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report

    Roudgari, H., Farndon, P. A., Murray, A. D., Hardy, C., Miedzybrodzka, Z.
    Clinical Genetics, vol. 82, no. 1, pp. 71-76
    Contributions to Journals: Articles

  • Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

    Kirchhoff, T., Gaudet, M. M., Antoniou, A. C., McGuffog, L., Humphreys, M. K., Dunning, A. M., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Kang, D., Yoo, K., Noh, D., Ahn, S., Dork, T., Schürmann, P., Karstens, J. H., Hillemanns, P., Couch, F. J., Olson, J., Vachon, C., Wang, X., Cox, A., Brock, I., Elliott, G., Reed, M. W. R., Burwinkel, B., Meindl, A., Brauch, H., Hamann, U., Ko, Y., GENICA Network, Broeks, A., Schmidt, M. K., Van 't Veer, L. J., Braaf, L. M., Johnson, N., Fletcher, O., Gibson, L., Peto, J., Turnbull, C., Seal, S., Renwick, A., Rahman, N., Wu, P., Yu, J., Hsiung, C., Shen, C., Southey, M. C., Hopper, J. L., Hammet, F., kConFaB, AOCS Study Group, SWE-BRCA, HEBON, EMBRACE, Miedzybrodzka, Z.
    PloS ONE, vol. 7, no. 6, e35706
    Contributions to Journals: Articles

  • Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

    Jakubowska, A., Rozkrut, D., Antoniou, A., Hamann, U., Scott, R. J., McGuffog, L., Healy, S., Sinilnikova, O. M., Rennert, G., Lejbkowicz, F., Flugelman, A., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Paligo, M., Aretini, P., Kantala, J., Aroer, B., von Wachenfeldt, A., Liljegren, A., Loman, N., Herbst, K., Kristoffersson, U., Rosenquist, R., Karlsson, P., Stenmark-Askmalm, M., Melin, B., Nathanson, K. L., Domchek, S. M., Byrski, T., Huzarski, T., Gronwald, J., Menkiszak, J., Cybulski, C., Serrano, P., Osorio, A., Cajal, T. R., Tsitlaidou, M., Benítez, J., Gilbert, M., Rookus, M., Aalfs, C. M., Kluijt, I., Boessenkool-Pape, J. L., Easton, D. F., Ellis, S. D., Cook, J., Wang, X., OCGN, Miedzybrodzka, Z.
    British Journal of Cancer, vol. 106, no. 12, pp. 2016-2024
    Contributions to Journals: Articles

  • 8OHdG as a marker for Huntington disease progression

    Long, J. D., Matson, W. R., Juhl, A. R., Leavitt, B. R., Paulsen, J. S., PREDICT-HD Investigators And Coordinators Of The Huntington Study Group, Miedzybrodzka, Z.
    Neurobiology of Disease, vol. 46, no. 3, pp. 625-634
    Contributions to Journals: Articles

  • Cognitive domains that predict time to diagnosis in prodromal Huntington disease

    Harrington, D. L., Smith, M. M., Zhang, Y., Carlozzi, N. E., Paulsen, J. S., PREDICT-HD Investigators of the Huntington Study Group, Miedzybrodzka, Z.
    Journal of Neurology, Neurosurgery & Psychiatry, vol. 83, no. 6, pp. 612-619
    Contributions to Journals: Articles

  • Re: Andrade NN, Raikwar K. Congenital benign teratoma of the tongue with bifid tip, ankyloglossia and polydactyly: report of case

    Walker, T. W. M., Ayliffe, P., Miedzybrodzka, Z.
    British Journal of Oral and Maxillofacial Surgery, vol. 50, no. 4, pp. e62
    Contributions to Journals: Letters

  • Striatal volume contributes to the prediction of onset of Huntington disease in incident cases

    Aylward, E. H., Liu, D., Nopoulos, P. C., Ross, C. A., Pierson, R. K., Mills, J. A., Long, J. D., Paulsen, J. S., PREDICT-HD Investigators And Coordinators Of The Huntington Study Group, Miedzybrodzka, Z.
    Biological Psychiatry, vol. 71, no. 9, pp. 822-828
    Contributions to Journals: Articles

  • Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

    Maia, A., Antoniou, A. C., O'Reilly, M., Samarajiwa, S., Dunning, M., Kartsonaki, C., Chin, S., Curtis, C. N., McGuffog, L., Domchek, S. M., Easton, D. F., Peock, S., Frost, D., Evans, D. G., Eeles, R., Izatt, L., Adlard, J., Eccles, D., Sinilnikova, O. M., Mazoyer, S., Stoppa-Lyonnet, D., Gauthier-Villars, M., Faivre, L., Venat-Bouvet, L., Delnatte, C., Nevanlinna, H., Couch, F. J., Godwin, A. K., Caligo, M. A., Barkardottir, R. B., Chen, X., Beesley, J., Healey, S., Caldas, C., Chenevix-Trench, G., Ponder, B. A. J., EMBRACE, Miedzybrodzka, Z.
    Breast Cancer Research, vol. 14, no. 2, R63
    Contributions to Journals: Articles

  • Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations

    Barnes, D. R., Lee, A., Easton, D. F., Antoniou, A. C., EMBRACE Investigators, kConFab Investigators, Miedzybrodzka, Z.
    Social Psychiatry and Psychiatric Epidemiology, vol. 36, no. 3, pp. 274-291
    Contributions to Journals: Articles

  • Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

    Ramus, S. J., Antoniou, A. C., Kuchenbaecker, K. B., Soucy, P., Beesley, J., Chen, X., McGuffog, L., Sinilnikova, O. M., Healey, S., Barrowdale, D., Lee, A., Thomassen, M., Gerdes, A., Kruse, T. A., Jensen, U. B., Skytte, A., Caligo, M. A., Liljegren, A., Lindblom, A., Olsson, H., Kristoffersson, U., Stenmark-Askmalm, M., Melin, B., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Zlowocka, E., Gronwald, J., Huzarski, T., Byrski, T., Cybulski, C., Toloczko-Grabarek, A., Osorio, A., Benitez, J., Duran, M., Tejada, M., Hamann, U., Rookus, M., van Leeuwen, F. E., Aalfs, C. M., Meijers-Heijboer, H. E. J., van Asperen, C. J., van Roozendaal, K. E. P., Hoogerbrugge, N., Collée, J. M., SWE-BRCA, Miedzybrodzka, Z.
    Human Mutation, vol. 33, no. 4, pp. 690-702
    Contributions to Journals: Articles

  • BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years

    Robertson, L., Hanson, H., Seal, S., Warren-Perry, M., Hughes, D., Howell, I., Turnbull, C., Houlston, R., Shanley, S., Butler, S., Evans, D. G., Ross, G., Eccles, D., Tutt, A., Rahman, N., TNT Trial TMG, Miedzybrodzka, Z.
    British Journal of Cancer, vol. 106, no. 6, pp. 1234-1238
    Contributions to Journals: Articles

  • CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

    Lee, J., Ramos, E. M., Lee, J., Gillis, T., Mysore, J. S., Hayden, M. R., Warby, S. C., Morrison, P., Nance, M., Ross, C. A., Margolis, R. L., Squitieri, F., Orobello, S., Di Donato, S., Gomez-Tortosa, E., Ayuso, C., Suchowersky, O., Trent, R. J. A., McCusker, E., Novelletto, A., Frontali, M., Jones, R., Ashizawa, T., Frank, S., Saint-Hilaire, M. H., Hersch, S. M., Rosas, H. D., Lucente, D., Harrison, M. B., Zanko, A., Abramson, R. K., Marder, K., Sequeiros, J., Paulsen, J. S., Landwehrmeyer, G. B., Myers, R. H., MacDonald, M. E., Gusella, J. F., PREDICT-HD study of the Huntington Study Group (HSG), Miedzybrodzka, Z.
    Neurology, vol. 78, no. 10, pp. 690-695
    Contributions to Journals: Articles

  • Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation

    Sharma, P., Boyers, D., Boachie, C., Stewart, F., Miedzybrodzka, Z., Simpson, W., Kilonzo, M., McNamee, P., Mowatt, G.
    Health Technology Assessment, vol. 16, no. 17, pp. 1-266
    Contributions to Journals: Articles

  • Gene-gene interactions in breast cancer susceptibility

    Turnbull, C., Seal, S., Renwick, A., Warren-Perry, M., Hughes, D., Elliott, A., Pernet, D., Peock, S., Adlard, J. W., Barwell, J., Berg, J., Brady, A. F., Brewer, C., Brice, G., Chapman, C., Cook, J., Davidson, R., Donaldson, A., Douglas, F., Greenhalgh, L., Henderson, A., Izatt, L., Kumar, A., Lalloo, F., Miedzybrodzka, Z., Morrison, P. J., Paterson, J., Porteous, M., Rogers, M. T., Shanley, S., Walker, L., Ahmed, M., Eccles, D., Evans, D. G., Donnelly, P., Easton, D. F., Stratton, M. R., Rahman, N., Breast Cancer Susceptibility Collaboration (UK), EMBRACE
    Human Molecular Genetics, vol. 21, no. 4, pp. 958-962
    Contributions to Journals: Articles

  • Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

    Mavaddat, N., Barrowdale, D., Andrulis, I. L., Domchek, S. M., Eccles, D., Nevanlinna, H., Ramus, S. J., Spurdle, A., Robson, M., Sherman, M., Mulligan, A. M., Couch, F. J., Engel, C., McGuffog, L., Healey, S., Sinilnikova, O. M., Southey, M. C., Terry, M. B., Goldgar, D., O'Malley, F., John, E. M., Janavicius, R., Tihomirova, L., Hansen, T. V. O., Nielsen, F. C., Osorio, A., Stavropoulou, A., Benítez, J., Manoukian, S., Peissel, B., Barile, M., Volorio, S., Pasini, B., Dolcetti, R., Putignano, A. L., Ottini, L., Radice, P., Hamann, U., Rashid, M. U., Hogervorst, F. B., Kriege, M., van der Luijt, R. B., Peock, S., Frost, D., Evans, D. G., Brewer, C., Walker, L., Rogers, M. T., Side, L. E., HEBON, Miedzybrodzka, Z.
    Cancer Epidemiology, Biomarkers and Prevention, vol. 21, no. 1, pp. 134-147
    Contributions to Journals: Articles

  • Discrepancies in reporting the CAG repeat lengths for Huntington's disease

    Quarrell, O. W., Handley, O., O'Donovan, K., Dumoulin, C., Ramos-Arroyo, M., Biunno, I., Bauer, P., Kline, M., Landwehrmeyer, G. B., European Huntington's Disease Network, Miedzybrodzka, Z.
    EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. , vol. 20, no. 1, pp. 20-26
    Contributions to Journals: Articles

  • Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

    Cox, D. G., Simard, J., Sinnett, D., Hamdi, Y., Soucy, P., Ouimet, M., Barjhoux, L., Verny-Pierre, C., McGuffog, L., Healey, S., Szabo, C., Greene, M. H., Mai, P. L., Andrulis, I. L., Thomassen, M., Gerdes, A., Caligo, M. A., Friedman, E., Laitman, Y., Kaufman, B., Paluch, S. S., Borg, ?., Karlsson, P., Askmalm, M. S., Bustinza, G. B., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Benítez, J., Hamann, U., Rookus, M. A., van den Ouweland, A. M. W., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Devilee, P., Gille, H. J. J. P., Peock, S., Frost, D., Evans, D. G., Eeles, R., Izatt, L., Adlard, J., Paterson, J., Eason, J., Godwin, A. K., Remon, M., Moncoutier, V., Gauthier-Villars, M., Ontario Cancer Genetics Network, Miedzybrodzka, Z.
    Human Molecular Genetics, vol. 20, no. 23, pp. 4732-4747
    Contributions to Journals: Articles

  • Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY

    Orth, M., Handley, O. J., Schwenke, C., Dunnett, S., Wild, E. J., Tabrizi, S. J., Landwehrmeyer, G. B., European Huntington's Disease Network, Miedzybrodzka, Z.
    Journal of Neurology, Neurosurgery & Psychiatry, vol. 82, no. 12, pp. 1409-1412
    Contributions to Journals: Articles

  • Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

    Mulligan, A. M., Couch, F. J., Barrowdale, D., Domchek, S. M., Eccles, D., Nevanlinna, H., Ramus, S. J., Robson, M., Sherman, M., Spurdle, A. B., Wappenschmidt, B., Lee, A., McGuffog, L., Healey, S., Sinilnikova, O. M., Janavicius, R., Hansen, T. v., Nielsen, F. C., Ejlertsen, B., Osorio, A., Muñoz-Repeto, I., Durán, M., Godino, J., Pertesi, M., Benítez, J., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Bonanni, B., Viel, A., Pasini, B., Papi, L., Ottini, L., Savarese, A., Bernard, L., Radice, P., Hamann, U., Verheus, M., Meijers-Heijboer, H. E. J., Wijnen, J., Gómez García, E. B., Nelen, M. R., Kets, C. M., Seynaeve, C., Tilanus-Linthorst, M. M. A., van der Luijt, R. B., Gregory, H., Breast Cancer Family Registry, Miedzybrodzka, Z.
    Breast Cancer Research, vol. 13, no. 6, R110
    Contributions to Journals: Articles

  • Elucigene and LIPOchip for FH: NICE Diagnostic Assessment Review (DAR)

    Sharma, P., Boyers, D., Boachie, C., Stewart, F., Miedzybrodzka, Z., Simpson, W., Kilonzo, M. M., McNamee, P., Mowatt, G.
    Contributions to Conferences: Other Contributions

  • Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

    Im, K. M., Kirchhoff, T., Wang, X., Green, T., Chow, C. Y., Vijai, J., Korn, J., Gaudet, M. M., Fredericksen, Z., Shane Pankratz, V., Guiducci, C., Crenshaw, A., McGuffog, L., Kartsonaki, C., Morrison, J., Healey, S., Sinilnikova, O. M., Mai, P. L., Greene, M. H., Piedmonte, M., Rubinstein, W. S., Hogervorst, F. B., Rookus, M. A., Collée, J. M., Hoogerbrugge, N., van Asperen, C. J., Meijers-Heijboer, H. E. J., Van Roozendaal, C. E., Caldes, T., Perez-Segura, P., Jakubowska, A., Lubinski, J., Huzarski, T., Blecharz, P., Nevanlinna, H., Aittomäki, K., Lazaro, C., Blanco, I., Barkardottir, R. B., Montagna, M., D'Andrea, E., Devilee, P., Olopade, O. I., Neuhausen, S. L., Peissel, B., Bonanni, B., Peterlongo, P., Singer, C. F., Rennert, G., HEBON, Miedzybrodzka, Z.
    Human Genetics, vol. 130, no. 5, pp. 685-699
    Contributions to Journals: Articles

  • Parenting a child with clubfoot: a qualitative study

    Pietrucin-Materek, M., Van Teijlingen, E. R., Barker, S., Keenan, K., Miedzybrodzka, Z.
    International Journal of Orthopaedic and Trauma Nursing, vol. 15, no. 4, pp. 176-184
    Contributions to Journals: Articles

  • The first ninety families diagnosed with mutation positive familial hypercholesterolaemia in two lipid clinics in a Scottish Health Board area

    Finnie, R. M., Walker, S., Simpson, W. G., Miedzybrodzka, Z.
    25th Annual Conference on Heart, pp. e3
    Contributions to Journals: Abstracts
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