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The School of Medicine, Medical Sciences and Nutrition

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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  • 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

  • Germline mutations in RAD51D confer susceptibility to ovarian cancer

    Loveday, C., Turnbull, C., Ramsay, E., Hughes, D., Ruark, E., Frankum, J. R., Bowden, G., Kalmyrzaev, B., Warren-Perry, M., Snape, K., 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., Eccles, D., Evans, D. G., Renwick, A., Seal, S., Lord, C. J., Ashworth, A., Reis-Filho, J. S., Antoniou, A. C., Rahman, N., Breast Cancer Susceptibility Collaboration (UK)
    Nature Genetics, vol. 43, no. 9, pp. 879-882
    Contributions to Journals: Articles

  • Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

    Antoniou, A. C., Kartsonaki, C., Sinilnikova, O. M., Soucy, P., McGuffog, L., Healey, S., Lee, A., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Barile, M., Pensotti, V., Pasini, B., Dolcetti, R., Giannini, G., Putignano, A. L., Varesco, L., Radice, P., Mai, P. L., Greene, M. H., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Gerdes, A., Kruse, T. A., Birk Jensen, U., Crüger, D. G., Caligo, M. A., Laitman, Y., Milgrom, R., Kaufman, B., Paluch-Shimon, S., Friedman, E., Loman, N., Harbst, K., Lindblom, A., Arver, B., Ehrencrona, H., Melin, B., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Jakubowska, A., Lubinski, J., Gronwald, J., Huzarski, T., Miedzybrodzka, Z., SWE-BRCA
    Human Molecular Genetics, vol. 20, no. 16, pp. 3304-3321
    Contributions to Journals: Articles

  • Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers: results from the consortium of investigators of modifiers of BRCA1/BRCA2

    Osorio, A., Milne, R. L., Alonso, R., Pita, G., Peterlongo, P., Teulé, A., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Lasa, A., Konstantopoulou, I., Hogervorst, F. B., Verhoef, S., van Dooren, M. F., Jager, A., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Vreeswijk, M., Waisfisz, Q., Van Roozendaal, C. E., Ligtenberg, M. J., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., Frost, D., Curzon, B., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Adlard, J., Eccles, D., Ong, K., Douglas, F., Downing, S., Brewer, C., Walker, L., Nevanlinna, H., Aittomäki, K., Couch, F. J., Fredericksen, Z., Lindor, N. M., Godwin, A., Isaacs, C., Caligo, M. A., Loman, N., HEBON, Miedzybrodzka, Z.
    British Journal of Cancer, vol. 104, no. 8, pp. 1356-1361
    Contributions to Journals: Articles

  • Is there evidence for aetiologically distinct subgroups of idiopathic congenital talipes equinovarus?: A case-only study and pedigree analysis

    Cardy, A. H., Sharp, L., Torrance, N., Hennekam, R. C., Miedzybrodzka, Z.
    PloS ONE, vol. 6, no. 4, e17895
    Contributions to Journals: Articles

  • Tissue specific characterisation of Lim-kinase 1 expression during mouse embryogenesis

    Lindström, N. O., Neves, C., McIntosh, R., Miedzybrodzka, Z. H., Vargesson, N., Collinson, J. M.
    Gene Expression Patterns, vol. 11, no. 3-4, pp. 221-232
    Contributions to Journals: Articles

  • Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

    Ramus, S. J., Kartsonaki, C., Gayther, S. A., Pharoah, P. D. P., Sinilnikova, O. M., Beesley, J., Chen, X., McGuffog, L., Healey, S., Couch, F. J., Wang, X., Fredericksen, Z., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Roversi, G., Barile, M., Viel, A., Allavena, A., Ottini, L., Papi, L., Gismondi, V., Capra, F., Radice, P., Greene, M. H., Mai, P. L., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Gerdes, A., Kruse, T. A., Cruger, D., Jensen, U. B., Caligo, M. A., Olsson, H., Kristoffersson, U., Lindblom, A., Arver, B., Karlsson, P., Stenmark Askmalm, M., Borg, A., Neuhausen, S. L., Ding, Y. C., Nathanson, K. L., Domchek, S. M., Jakubowska, A., Gregory, H., OCGN, Miedzybrodzka, Z.
    Journal of the National Cancer Institute, vol. 103, no. 2, pp. 105-116
    Contributions to Journals: Articles

  • Mammographic surveillance in women younger than 50 years who have a family history of breast cancer: tumour characteristics and projected effect on mortality in the prospective, single-arm, FH01 study

    Duffy, S. W., Mackay, J., Thomas, S., Anderson, E., Evans, D. G., Fielder, H., Fox, R., Gray, J., Gui, G., Macmillan, D., Moss, S., Rogers, C., Sainsbury, R., Sibbering, M., Boggis, C., Burn, J., Cuzick, J., Haward, B., Howell, A., Mansel, R., Cork, H. M., Robertson, J., Patnick, J., Pharoah, P., Robinson, A., Sutton, S., Kataoka, M., Moyle, P., Wallis, M., Warren, R., Jones, E. L., Austoker, J., Clements, A., Watson, E., Young, K., Allgood, P., Duffy, P., Gabe, R., Roberts, L., Warsi, I., Caunt, J., Brentnall, A., Dungey, F., Ferguson, J., Gilbert, F., Miedzybrodzka, Z., Read, F., Simpson, C., Smith, D., Steel, J., FH01 Collaborative Teams
    The Lancet Oncology, vol. 11, no. 12, pp. 1127-1134
    Contributions to Journals: Articles

  • Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    Engel, C., Versmold, B., Wappenschmidt, B., Simard, J., Easton, D. F., Peock, S., Cook, M., Oliver, C., Frost, D., Mayes, R., Evans, D. G., Eeles, R., Paterson, J., Brewer, C., Miedzybrodzka, Z. H., Epidemiological Study of Familial Breast Cancer (EMBRACE), McGuffog, L., Antoniou, A. C., Stoppa-Lyonnet, D., Sinilnikova, O. M., Barjhoux, L., Frenay, M., Michel, C., Leroux, D., Dreyfus, H., Toulas, C., Gladieff, L., Uhrhammer, N., Bignon, Y., Meindl, A., Arnold, N., Varon-Mateeva, R., Niederacher, D., Preisler-Adams, S., Kast, K., Deissler, H., Sutter, C., Gadzicki, D., Chenevix-Trench, G., Spurdle, A. B., Chen, X., Beesley, J., Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Olsson, H., Kristoffersson, U., Ehrencrona, H., Liljegren, A., Swedish Breast Cancer Study, Sweden (SWE-BRCA), van der Luijt, R. B., van Os, T. A., van Leeuwen, F. E., Hereditary Breast and Ovarian cancer group Netherlands (HEBON), Domchek, S. M., Rebbeck, T. R., Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
    Cancer Epidemiology, Biomarkers and Prevention, vol. 19, no. 11, pp. 2859-2868
    Contributions to Journals: Articles

  • Mutation and association analysis of GEN1 in breast cancer susceptibility

    Turnbull, C., Hines, S., Renwick, A., Hughes, D., Pernet, D., Elliott, A., Seal, S., Warren-Perry, M., Evans, D. G., Eccles, D., Breast Cancer Susceptibility Collaboration (UK), Stratton, M. R., Rahman, N., Miedzybrodzka, Z. H.
    Breast Cancer Research and Treatment, vol. 124, no. 1, pp. 283-288
    Contributions to Journals: Articles

  • Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

    Spurdle, A. B., Fahey, P., Chen, X., McGuffog, L., Easton, D., Peock, S., Cook, M., Simard, J., Rebbeck, T. R., Antoniou, A. C., Chenevix-Trench, G., Miedzybrodzka, Z., kConFaB, EMBRACE, INHERIT, MAGIC
    Breast Cancer Research and Treatment, vol. 122, no. 1, pp. 281-285
    Contributions to Journals: Articles

  • Micro-magnetic resonance imaging and embryological analysis of wild-type and pma mutant mice with clubfoot

    Duce, S., Madrigal, L., Schmidt, K., Cunningham, C., Liu, G., Barker, S., Tennant, G., Tickle, C., Chudek, S., Miedzybrodzka, Z. H.
    Journal of Anatomy, vol. 216, no. 1, pp. 108-120
    Contributions to Journals: Articles

  • Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

    Antoniou, A. C., Sinilnikova, O. M., McGuffog, L., Healey, S., Nevanlinna, H., Heikkinen, T., Simard, J., Spurdle, A. B., Beesley, J., Chen, X., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Fredericksen, Z., Peterlongo, P., Peissel, B., Bonanni, B., Viel, A., Bernard, L., Radice, P., Szabo, C. I., Foretova, L., Zikan, M., Claes, K., Greene, M. H., Mai, P. L., Rennert, G., Lejbkowicz, F., Andrulis, I. L., Ozcelik, H., Glendon, G., Gerdes, A., Thomassen, M., Sunde, L., Caligo, M. A., Laitman, Y., Kontorovich, T., Cohen, S., Kaufman, B., Dagan, E., Baruch, R. G., Friedman, E., Harbst, K., Barbany-Bustinza, G., Rantala, J., Ehrencrona, H., Karlsson, P., Domchek, S. M., Miedzybrodzka, Z., Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab)
    Human Molecular Genetics, vol. 18, no. 22, pp. 4442-4456
    Contributions to Journals: Articles

  • Deregulation of EIF4E: a novel mechanism for autism

    Neves-Pereira, M., Muller, B., Massie, D., Williams, J. H. G., O'Brien, P. C. M., Hughes, A., Shen, S., St Clair, D., Miedzybrodzka, Z.
    Journal of Medical Genetics, vol. 46, no. 11, pp. 759-765
    Contributions to Journals: Articles

  • The developmental basis of clubfoot

    Lindstrom, N., McIntosh, R., Sapsford, H., Vargesson, N., Miedzybrodzka, Z., Collinson, M.
    16th Annual Conference of the International-Society-of-Development-Biologists, pp. S126
    Contributions to Journals: Abstracts

  • Amniocentesis in the second trimester and congenital talipes equinovarus in the offspring: a population-based record linkage study in Scotland

    Cardy, A. H., Torrance, N., Clark, D., Miedzybrodzka, Z., Sharp, L.
    Prenatal Diagnosis, vol. 29, no. 6, pp. 613-619
    Contributions to Journals: Articles

  • How young people find out about their family history of Huntington's disease

    Keenan, K., van Teijlingen, E., McKee, L., Miedzybrodzka, Z., Simpson, S. A.
    Social Science & Medicine, vol. 68, no. 10, pp. 1892-1900
    Contributions to Journals: Articles

  • Facial features in children with idiopathic congenital talipes equinovarus

    Chesney, D., Miedzbroska, Z., Barker, S., Deans, J., Haites, N., Maffulli, N.
    Acta Orthopaedica Belgica, vol. 75, no. 1, pp. 57-63
    Contributions to Journals: Articles

  • Treatment and Diagnosis of Behavioural Disorders

    Miedzybrodzka, Z. H., St Clair, D. M., Muller, B., Neves-Pereira, M. D. L., Massie, D.
    Patents: Patents

  • Predicting breast cancer risk: implications of a "weak" family history

    Anderson, E., Berg, J., Black, R., Bradshaw, N., Campbell, J., Cetnarskyj, R., Drummond, S., Davidson, R., Dunlop, J., Fordyce, A., Gibbons, B., Goudie, D., Gregory, H., Hanning, K., Holloway, S., Longmuir, M., McLeish, L., Murday, V., Miedzybrodska, Z., Nicholson, D., Pearson, P., Porteous, M., Reis, M., Slater, S., Smith, K., Smyth, E., Snadden, L., Steel, M., Stirling, D., Watt, C., Whyte, C., Young, D., Miedzybrodzka, Z.
    Familial Cancer, vol. 7, no. 4, pp. 361-366
    Contributions to Journals: Articles

  • Probability estimation models for prediction of BRCA1 and BRCA2 mutation carriers: COS compares favourably with other models

    Roudgari, H., Miedzybrodzka, Z. H., Haites, N. E.
    Familial Cancer, vol. 7, no. 3, pp. 199-212
    Contributions to Journals: Articles

  • Protocol for stage 2 of the GaP study (genetic testing acceptability for Paget's disease of bone): a questionnaire study to investigate whether relatives of people with Paget's disease would accept genetic testing and preventive treatment if they were available

    Langston, A. L., Johnston, M., Francis, J., Robertson, C., Campbell, M. K., Entwistle, V. A., Marteau, T., Maclennan, G., Weinman, J., McCallum, M., Miedzybrodska, Z., Charnock, K., Ralston, S. H., Miedzybrodzka, Z.
    BMC Health Services Research, vol. 8, no. 116, pp. 116
    Contributions to Journals: Articles

  • New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy

    Houlden, H., Groves, M., Miedzybrodzka, Z., Roper, H., Willis, T., Winer, J., Cole, G., Reilly, M. M.
    Journal of Neurology, Neurosurgery & Psychiatry, vol. 78, no. 11, pp. 1267-1270
    Contributions to Journals: Articles

  • The essential role of genetic counseling in inherited thrombophilia

    Lochhead, P., Miedzybrodzka, Z.
    Seminars in Hematology, vol. 44, no. 2, pp. 126-129
    Contributions to Journals: Articles

  • Young people's experiences of growing up in a family affected by Huntington's disease

    Forrest-Keenan, K., Miedzybrodzka, Z., van Teijlingen, E., McKee, L., Simpson, S. A.
    Clinical Genetics, vol. 71, no. 2, pp. 120-129
    Contributions to Journals: Articles

  • The C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR), maternal use of folic acid supplements, and risk of isolated clubfoot: a case-parent triad analysis

    Sharp, L., Miedzybrodzka, Z. H., Cardy, A. H., Inglis, J. A., Madrigal, L., Barker, S., Chesney, D., Clark, C., Maffulli, N.
    American Journal of Epidemiology, vol. 164, no. 9, pp. 852-861
    Contributions to Journals: Articles

  • Genetic nurse counsellors can be an acceptable and cost-effective alternative to clinical geneticists for breast cancer risk genetic counselling: Evidence from two parallel randomised controlled equivalence trials

    Torrance, N., Mollison, J. A., Wordsworth, S., Gray, J., Miedzybrodzka, Z. H., Haites, N. E., Grant, A., Campbell, M. K., Watson, M., Clarke, A., Wilson, B.
    British Journal of Cancer, vol. 95, pp. 435-444
    Contributions to Journals: Articles

  • Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

    Archer, H. L., Whatley, S. D., Evans, J. C., Ravine, D., Huppke, P., Kerr, A., Bunyan, D., Kerr, B., Sweeney, E., Davies, S. J., Reardon, W., Horn, J., MacDermot, K. D., Smith, R. A., Magee, A., Donaldson, A., Crow, Y., Hermon, G., Miedzybrodzka, Z., Cooper, D. N., Lazarou, L., Butler, R., Sampson, J., Pilz, D. T., Laccone, F., Clarke, A. J.
    Journal of Medical Genetics, vol. 43, no. 5, pp. 451-456
    Contributions to Journals: Articles

  • Cluster randomized trial of a multifaceted primary care decision-support intervention for inherited breast cancer risk

    Wilson, B., Torrance, N., Mollison, J. A., Watson, M., Douglas, A., Miedzybrodzka, Z. H., Gordon, R., Wordsworth, S., Campbell, M. K., Haites, N. E., Grant, A. M.
    Family Practice, vol. 23, no. 5, pp. 537-44
    Contributions to Journals: Articles

  • Opening doors for young people in Huntington's Disease families

    Keenan, K., Simpson, S. A., Miedzybrodzka, Z., Van Teijlingen, E. R., McKee, L.
    World Congress on Huntingtons Disease 2005, pp. A52
    Contributions to Journals: Abstracts

  • Impact of a cancer registry-based genealogy service to support clinical genetics services

    Brewster, D. H., Fordyce, A., Black, R. J., Scottish Clinical Geneticists, Bradshaw, N., Campbell, J., Cetnarskyj, R., Davidson, R., Drummond, S., Garcia, S., Gibbons, B., Goudie, D., Gregory, H., Haites, N., Irvine, L., Joss, S., Keng, W. T., Kirk, E., Longmuir, M., McLeish, L., Malloch, H., Miedzybrodzka, Z., Murday, V., Pearson, P., Porteous, M., Simpson, S., Slater, S., Snadden, L., Michael Steel, C., Stirling, D., Timmons, A., Watt, C., Whiteford, M., Whyte, C., Young, D.
    Familial Cancer, vol. 3, no. 2, pp. 139-141
    Contributions to Journals: Articles

  • Exploring the effects of the MTHFR C677T polymorphism on the risk of clubfoot: an analysis of case-parent triads in the UK

    Sharp, L., Miedzybrodzka, Z. H., Cardy, A. H., Inglis, J. A., Madrigal, L.
    Journal of Epidemiology and Community Health, vol. 58, pp. A1-A2
    Contributions to Journals: Articles

  • Factor analysis can be a useful standard setting tool in a high stakes OSCE assessment

    Chesser, A. M. S., Laing, M., Miedzybrodzka, Z. H., Brittenden, J., Heys, S. D.
    Medical Education, vol. 38, pp. 825-831
    Contributions to Journals: Articles

  • Genetics and epidemiology of idiopathic congenital talipes equinovarus

    Barker, S., Chesney, D., Miedzybrodzka, Z. H., Maffulli, N.
    Journal of Pediatric Orthopedics, vol. 23, no. 2, pp. 265-272
    Contributions to Journals: Articles

  • Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand

    Miedzybrodzka, Z. H.
    Journal of Anatomy, vol. 202, no. 1, pp. 37-42
    Contributions to Journals: Articles

  • Prothrombotic genotypes are not associated with pre-eclampsia and gestational hypertension: results from a large population-based study and systematic review

    Morrison, E. R., Miedzybrodzka, Z. H., Campbell, D. M., Haites, N. E., Wilson, B., Watson, M., Greaves, M., Vickers, M. A.
    Thrombosis and Haemostasis, vol. 87, no. 5, pp. 779-785
    Contributions to Journals: Articles

  • Teaching undergraduates about familial breast cancer: comparison of a computer assisted learning (CAL) package with a traditional tutorial approach

    Miedzybrodzka, Z. H., Hamilton, N. M., Milner, B. J., Mollison, J. A., Haites, N. E., Gregory, H., Frade, I., Sinclair, T.
    EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. , vol. 9, pp. 953-956
    Contributions to Journals: Articles

  • Stored tissue may be important for the future care of families

    Haites, N. E., Dean, J. C. S., Miedzybrodzka, Z. H.
    British Medical Journal, vol. 322, no. 7293, pp. 1060-1060
    Contributions to Journals: Letters

  • Folate and breast cancer: the role of polymorphsisms in methylenetetrahydrofolate reductase (MTHFR)

    Schofield, A. C., sharp, L., Pavlidou, E., Miedzybrodzka, Z. H., Heys, S. D., little, J., Haites, N. E.
    EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. , vol. 9, pp. 275
    Contributions to Journals: Abstracts

  • Vitamin D and breast cancer: interaction between dietary vitamin D and genetic variation in the vitamin D receptor may be implicated in the aetiology of breast cancer

    Miedzybrodzka, Z. H., Sharp, L., Richardson, J., Schofield, A. C., McGuigan, F. E. A., Heys, S. D., Little, J., Haites, N. E.
    EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. , vol. 9, no. Supplement 1, pp. 1411
    Contributions to Journals: Articles

  • Epidemiology and genetic theories in the etiology of congenital talipes equinovarus

    Chesney, D., Barker, S., Miedzybrodzka, Z., Haites, N., Maffulli, N.
    Bulletin: Hospital for Joint Diseases, vol. 58, no. 1, pp. 59-64
    Contributions to Journals: Articles

  • Incorrect recall of residual risk three years after carrier screening for cystic fibrosis: A comparison of two-step and couple screening

    Marteau, T. M., Michie, S., Miedzybrodzka, Z., Allanson, A.
    American Journal of Obstetrics and Gynecology, vol. 181, no. 1, pp. 165-169
    Contributions to Journals: Articles

  • Fragile X syndrome with FMR1 and FMR2 deletion

    Moore, S. J., Strain, L., Cole, G. F., Miedzybrodzka, Z., Kelly, K. F., Dean, J. C. S.
    Journal of Medical Genetics, vol. 36, pp. 565-566
    Contributions to Journals: Articles

  • Haemochromatosis mutations in North-East Scotland

    Miedzybrodzka, Z., Loughlin, S., Baty, D., Terron, A., Kelly, K., Dean, J., Greaves, M., Pippard, M., Haites, N.
    British Journal of Haematology, vol. 106, pp. 385-387
    Contributions to Journals: Articles

  • Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1 alpha gene: implications for predictive testing

    Miedzybrodzka, Z., Hattersley, A. T., Ellard, S., Pearson, D., de Silva, D., Harvey, R., Haites, N.
    EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. , vol. 7, pp. 729-732
    Contributions to Journals: Articles

  • Cystic fibrosis screening policies [9]

    Hall, M. H., Miedzybrodzka, Z. H., Haites, N. E., Dean, J. C., Brock, D. J.
    Lancet, vol. 347, no. 9006, pp. 969
    Contributions to Journals: Letters

  • Willingness to pay for antenatal carrier screening for cystic fibrosis

    Donaldson, C., Shackley, P., Abdalla, M., Miedzybrodzka, Z.
    Health Economics, vol. 4, no. 6, pp. 439-452
    Contributions to Journals: Articles

  • Antenatal screening for carriers of cystic fibrosis: Randomised Trial of stepwise v couple screening

    Miedzybrodzka, Z. H., Hall, M. H., Mollison, J., Templeton, A., Russell, I. T., Dean, J. C., Kelly, K. F., Marteau, T. M., Haites, N. E.
    BMJ, vol. 310, no. 6976
    Contributions to Journals: Articles

  • Antenatal carrier screening for cystic fibrosis

    Miedzybrodzka, Z.
    Biomedicine and Pharmacotherapy, vol. 49, no. 10, pp. 472-473
    Contributions to Journals: Articles

  • Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories

    Schwarz, M. J., Malone, G. M., Haworth, A., Cheadle, J. P., Meredith, A. L., Gardner, A., Sawyer, I. H., Connarty, M., Dennis, N., Seller, A., Harris, A., Taylor, R., Dear, S., Middleton‐Price, H., McMahon, C., Mayall, E., McMahon, R., Barton, D. E., Giles, M., Lindley, V., Plaha, D. S., Price, S., Sharif, A., Cross, G. S., Dalton, A., Taylor, G., Wallace, A., Tassabehji, M., Whittaker, J. L., Butler, R., Curtis, A., Pinkett, R., Gilfillan, A. J., Brock, D. J., Higgins, G. S., Lanyon, G., Miedzybrodzka, Z., Davidson, M., Graham, C. A., Hill, A. J.
    Human Mutation, vol. 6, no. 4, pp. 326-333
    Contributions to Journals: Articles

  • Stepwise or couple antenatal carrier screening for cystic fibrosis?: Women's preferences and willingness to pay

    Miedzybrodzka, Z., Semper, J., Shackley, P., Abdalla, M., Donaldson, C.
    Journal of Medical Genetics, vol. 32, no. 4, pp. 282-283
    Contributions to Journals: Articles

  • Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech Patients

    Cashman, S. M., Patino, A., Martinez, A., Garcia-Delgado, M., Miedzybrodzka, Z., Schwarz, M., Shrimpton, A., Ferec, C., Raguenes, O., Macek, M., Morral, N., De Arce, M.
    Human Heredity, vol. 45, no. 1, pp. 6-12
    Contributions to Journals: Articles

  • Evaluation of laboratory methods for cystic fibrosis carrier screening: Reliability, sensitivity, specificity, and costs

    Miedzybrodzka, Z. H., Yin, Z., Kelly, K. F., Haites, N. E.
    Journal of Medical Genetics, vol. 31, no. 7, pp. 545-550
    Contributions to Journals: Articles

  • Counting the benefits of screening: A pilot study of willingness to pay for cystic fibrosis carrier screening

    Miedzybrodzka, Z., Shackley, P., Donaldson, C., Abdalla, M.
    Journal of Medical Screening, vol. 1, no. 2, pp. 82-83
    Contributions to Journals: Articles

  • Screening for cystic fibrosis: medical and ethical issues

    Haites, N. E., Miedzybrodzka, Z. H.
    Current Obstetrics and Gynaecology, vol. 3, no. 1, pp. 61-62
    Contributions to Journals: Articles

  • Antenatal cystic fibrosis carrier screening—whether, when and how?

    Miedzybrodzka, Z., Haites, N., Hall, M., Templeton, A., Marteau, T., Dean, J., Kelly, K., Russell, I.
    Paediatric and Perinatal Epidemiology, vol. 7, no. 4, pp. 368-375
    Contributions to Journals: Articles

  • Preimplantation diagnosis: Preimplantation diagnosis or chorionic villus biopsy? women's attitudes and preferences

    Miedzybrodzka, Z., Templeton, A., Dean, J., Haites, N., Mollison, J., Smith, N.
    Human Reproduction, vol. 8, no. 12, pp. 2192-2196
    Contributions to Journals: Articles

  • Prevalence of cystic fibrosis mutations in the Grampian region of Scotland

    Miedzybrodzka, Z. H., Dean, J. C., Russell, G., Friend, J. A., Kelly, K. F., Haites, N. E.
    Journal of Medical Genetics, vol. 30, no. 4, pp. 316-317
    Contributions to Journals: Articles

  • Prenatal diagnosis for the cystic fibrosis mutation 1717‐1, G→A using arms

    Miedzybrodzka, Z. H., Kelly, K. F., Davidson, M., Little, S., Shrimptons, A. E., Dean, J. C., Haites, N. E.
    Prenatal Diagnosis, vol. 12, no. 10, pp. 845-849
    Contributions to Journals: Articles

  • Screening for carriers of cystic fibrosis

    Dean, J. C., Kelly, K. F., Miedzybrodzka, Z., Shrimpton, A. E.
    British Medical Journal, vol. 302, no. 6767, pp. 53
    Contributions to Journals: Letters
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