![Professor Zofia Miedzybrodzka Professor Zofia Miedzybrodzka](/img/200x200/staffpages/uploads/gen258/avatar/cN0dnJk0ksI7XfR3eJIyRsBxHJxn0VX6PZg6GSRF.jpeg)
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
- 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 Medicine1995 - University of Aberdeen
- MB ChB Medicine and Surgery1988 - University of Aberdeen
- FRCP Edin Fellowship of Royal College of Physicians of Edinburgh2008 - Royal College of Physicians of Edinburgh
- FRCOG Obstetrics and Gynaecology2010 - Royal of Obstetricians and Gynaecologists
Memberships and Affiliations
- Internal Memberships
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Centre for Genome-enabled Biology and Medicine
Institute of Medical Sciences
- External Memberships
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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
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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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Page 1 of 2 Results 1 to 100 of 163
Should Scotland Provide Genome-Wide Sequencing for the Diagnosis of Rare Developmental Disorders?: A Cost-Effectiveness Analysis
European Journal of Health EconomicsContributions to Journals: ArticlesMethods applied to neonatal dried blood spot samples for secondary research purposes: a scoping review
Critical Reviews in Clinical Laboratory SciencesContributions to Journals: Review articles- [ONLINE] DOI: https://doi.org/10.1080/10408363.2024.2360996
- [ONLINE] View publication in Scopus
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort
European Journal of Human Genetics, vol. 32, no. 6, pp. 731-735Contributions to Journals: ArticlesAn investigation of the clinical impact and therapeutic relevance of a DNA damage immune response (DDIR) signature in patients with advanced gastroesophageal adenocarcinoma
ESMO Open, vol. 9, no. 5, 103450Contributions to Journals: ArticlesAlternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis
Health technology assessment (Winchester, England), vol. 27, no. 16, pp. 1-140Contributions to Journals: ArticlesVIKING II, a worldwide observational cohort of volunteers with northern isles ancestry
International Journal of Population Data Science, vol. 8, no. 1, 2121Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.23889/ijpds.v8i1.2121
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/21357/1/Kerr_etal_IJPDS_VIKING_II_A_VOR.pdf
- [ONLINE] View publication in Scopus
Clinical case study meets population cohort: Identification of a BRCA1 pathogenic founder variant in Orcadians
European Journal of Human Genetics, vol. 31, pp. 588-595Contributions to Journals: ArticlesSevere Hypertriglyceridaemia and Chylomicronaemia Syndrome: Causes, Clinical Presentation, and Therapeutic Options
Metabolites, vol. 13, no. 5, 621Contributions to Journals: ArticlesGenome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing: implications for future testing
European Journal of Human Genetics, vol. 31, no. 2, pp. 231-238Contributions to Journals: ArticlesUnderstanding how educational interventions improve treatment adherence in patients with familial hypercholesterolaemia: a systematic review
Journal of Community Genetics, vol. 14, no. 1, pp. 5-15Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1007/s12687-022-00620-0
- [ONLINE] View publication in Scopus
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome
British Journal of Dermatology, vol. 187, no. 6, pp. 948-961Contributions to Journals: ArticlesAnalysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes
Annals of Oncology, vol. 33, no. 12, pp. 1318-1327Contributions to Journals: ArticlesFeasibility and ethics of using data from the Scottish newborn blood spot archive for research
Communications Medicine, vol. 2, 126Contributions to Journals: ArticlesContinuing the sequence?: Towards an Economic Evaluation of Whole Genome Sequencing for the Diagnosis of Rare Diseases in Scotland
Journal of Community Genetics, vol. 13, pp. 487-501Contributions to Journals: ArticlesAnalysis of the Clinical Advancements for BRCA-Related Malignancies Highlights the Lack of Treatment Evidence for BRCA-Positive Male Breast Cancer
Cancers, vol. 14, no. 13, 3175Contributions to Journals: ArticlesEvaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service
British Journal of Cancer, vol. 126, pp. 1339–1345Contributions to Journals: ArticlesThe known burden of Huntington disease in the north of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular era
Journal of Neurology, vol. 268, pp. 4170-4177Contributions to Journals: ArticlesHuntington's disease: northern Scotland has one of the world's highest rates and rising sharply - here's why
Contributions to Specialist PublicationsCreation and Worldwide Utilisation of New COVID-19 Online Information Hub for Genetics Health Professionals, Patients and Families
Frontiers in Genetics, vol. 12, 621683Contributions to Journals: ArticlesOptimized EGFR Blockade Strategies in EGFR Addicted Gastroesophageal Adenocarcinomas
Clinical Cancer Research, vol. 27, no. 11, pp. 3126-3140Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1158/1078-0432.CCR-20-0121
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Nature Communications, vol. 12, 1078Contributions to Journals: ArticlesInteractions between anti-EGFR therapies and cytotoxic chemotherapy in oesophageal squamous cell carcinoma: why clinical trials might have failed and how they could succeed
Cancer Chemotherapy and Pharmacology, vol. 87, pp. 361–377Contributions to Journals: ArticlesGenetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women
Nature Communications, vol. 11, no. 1, 5976Contributions to Journals: ArticlesYoung-onset colorectal cancer in the North East of Scotland: survival, clinico- pathological features and genetics
BMC Cancer, vol. 20, 108Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1186/s12885-020-6606-0
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/13719/1/Perrott_et_al_2020_BMC_Cancer.pdf
- [ONLINE] View publication in Scopus
Genetics professionals’ experiences of facilitating parent/child communication through the genetic clinic
Journal of genetic counseling, vol. 29, no. 1, pp. 44-55Contributions to Journals: ArticlesLetter in Response to Tibben et al., Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners
Journal of Huntington's disease, vol. 8, no. 3, pp. 357-359Contributions to Journals: Letters- [ONLINE] DOI: https://doi.org/10.3233/JHD-190360
- [ONLINE] View publication in Mendeley
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort
Scientific Reports, vol. 9, 10964Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/s41598-019-47436-6
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/12770/1/Kerr_et_al_sr_an_actionable.pdf
- [ONLINE] View publication in Scopus
- [ONLINE] View publication in Mendeley
27 years of prenatal diagnosis for Huntington disease in the United Kingdom
Genetics in Medicine, vol. 21, pp. 1639–1643Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/s41436-018-0367-z
- [ONLINE] View publication in Scopus
- [ONLINE] View publication in Mendeley
- [ONLINE] View publication in Mendeley
- [ONLINE] White Rose repository
Clinical and genetic characteristics of late-onset Huntington's disease
Parkinsonism and Related Disorders, vol. 61, pp. 101-105Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1016/j.parkreldis.2018.11.009
- [ONLINE] View publication in Scopus
A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice
European Journal of Human Genetics, vol. 27, pp. 1215-1224Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/s41431-019-0375-8
- [ONLINE] View publication in Scopus
- [ONLINE] View publication in Mendeley
- [ONLINE] View publication in Mendeley
Parents’ views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study
Journal of Community Genetics, vol. 10, no. 1, pp. 129-141Contributions to Journals: ArticlesCHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
Nature Communications, vol. 9, 4619Contributions to Journals: ArticlesRoutine germline BRCA1 and BRCA2 testing in ovarian carcinoma patients: analysis of the Scottish real life experience
BJOG-An International Journal of Obstetrics and Gynaecology, vol. 125, no. 11, pp. 1451-1458Contributions to Journals: ArticlesThe molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, vol. 177, no. 3, pp. 346-357Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1002/ajmg.b.32618
The developmental and genetic basis of ‘clubfoot’ in the peroneal muscular atrophy mutant mouse
Development, vol. 145, no. 3, dev160093Contributions to Journals: ArticlesPredictive testing of minors for Huntington's disease: The UK and Netherlands experiences
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, vol. 177, no. 1, pp. 35 - 39Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1002/ajmg.b.32582
Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study
Journal of Huntington's disease, vol. 7, no. 3, pp. 209-222Contributions to Journals: Articles- [ONLINE] View publication in Scopus
Cognitive decline in Huntington's disease expansion gene carriers
Cortex, vol. 95, pp. 51-62Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1016/j.cortex.2017.07.017
- [ONLINE] View publication in Scopus
Gefitinib and EGFR Gene Copy Number Aberrations in Esophageal Cancer
Journal of Clinical Oncology, vol. 35, no. 20, pp. 2279-2287Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1200/JCO.2016.70.3934
Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK
European Heart Journal, vol. 38, no. 23, pp. 1832-1839Contributions to Journals: ArticlesPrevalence and architecture of de novo mutations in developmental disorders
Nature, vol. 542, no. 7642, pp. 433-438Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/nature21062
Variants in the fetal genome near FLT1 are associated with risk of preeclampsia
Nature Genetics, vol. 49, pp. 1255-1260Contributions to Journals: Letters- [ONLINE] DOI: https://doi.org/10.1038/ng.3895
22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium
EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. , vol. 24, no. 10, pp. 1396-1402Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/ejhg.2016.81
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/7901/6/22_years_of_Predictive_Testing_for_Huntington_revision.docx
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/7901/5/Fig_1_hd_predictive_tests.tif
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/7901/3/Fig_2_HD_predictive_tests.tif
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/7901/1/Fig_3_hd_predictive_tests.tif
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/7901/2/Table_1_revised.xlsx
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/7901/4/Table_2_revised.xlsx
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/7901/7/Table_3.xlsx
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/7901/9/Table_4.xlsx
Health Care Delivery Practices in Huntington's Disease Specialty Clinics: An International Survey
Journal of Huntington's disease, vol. 5, no. 2, pp. 207-213Contributions to Journals: ArticlesHuntington disease reduced penetrance alleles occur at high frequency in the general population
Neurology, vol. 87, no. 3, pp. 282-288Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1212/WNL.0000000000002858
Antibody deficiency in Rubinstein-Taybi syndrome
Clinical Genetics, vol. 89, no. 3, pp. 355-358Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1111/cge.12671
Mutation of genes controlling mRNA metabolism and protein synthesis predisposes to neurodevelopmental disorders
Biochemical Society Transactions, vol. 43, no. 6, pp. 1259-1265Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1042/BST20150168
Epidermal Growth Factor (EGFR) copy number aberrations in esophageal and gastro-esophageal junctional carcinoma
Molecular Cytogenetics , vol. 8, 78Contributions to Journals: ArticlesHelp or hindrance: young people's experiences of predictive testing for Huntington's disease
Clinical Genetics, vol. 87, no. 6, pp. 563-569Contributions to Journals: ArticlesMutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Nature Genetics, vol. 47, no. 6, pp. 579-581Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/ng.3289
Full UPF3B function is critical for neuronal differentiation of neural stem cells
Molecular brain, vol. 8, 33Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1186/s13041-015-0122-1
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/4555/1/s13041_015_0122_1.pdf
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
Nature Genetics, vol. 47, no. 4, pp. 373-380Contributions to Journals: Letters- [ONLINE] DOI: https://doi.org/10.1038/ng.3242
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
Nature Genetics, vol. 47, no. 2, pp. 164-171Contributions to Journals: Letters- [ONLINE] DOI: https://doi.org/10.1038/ng.3185
Performance of the 12-item WHODAS 2.0 in prodromal Huntington disease
EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. , vol. 23, no. 11, pp. 1584-1587Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/ejhg.2015.11
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/5084/1/ejhg201511a.pdf
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
Breast Cancer Research, vol. 16, no. 6, 3416Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1186/s13058-014-0492-9
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/5113/1/s13058_014_0492_9.pdf
Prediction of manifest Huntington's disease with clinical and imaging measures: a prospective observational study
The Lancet neurology, vol. 13, no. 12, pp. 1193-1201Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1016/S1474-4422(14)70238-8
Common genetic variants on 1p13.2 associate with risk of autism
Molecular Psychiatry, vol. 19, no. 11, pp. 1212-1219Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/mp.2013.146
The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services
Breast Cancer Research, vol. 16, no. 5, 442Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1186/s13058-014-0442-6
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/4194/1/s13058_014_0442_6.pdf
Genetic Discrimination and Predictive Testing for Huntington’s Disease and Familial Cancer in Northern Scotland: The I-Respond-UK Study
8th European-Huntington's-Disease-Network Plenary Meeting, pp. A80-A80Contributions to Journals: Abstracts- [ONLINE] DOI: https://doi.org/10.1136/jnnp-2014-309032.229
How to Improve Young People's Experiences of Predictive Testing for Huntington's Disease
8th European-Huntington's-Disease-Network Plenary Meeting, pp. A79-A79Contributions to Journals: Abstracts- [ONLINE] DOI: https://doi.org/10.1136/jnnp-2014-309032.226
Shaping The Huntington’s Disease Journey: A Managed Care Pathway For Scotland
8th European-Huntington's-Disease-Network Plenary Meeting, pp. A84-A84Contributions to Journals: Abstracts- [ONLINE] DOI: https://doi.org/10.1136/jnnp-2014-309032.241
Understanding the Health Care Experiences and needs of People Living with Huntingtons Disease (HD): An Exploratory Study
8th European-Huntington's-Disease-Network Plenary Meeting, pp. A83-A83Contributions to Journals: Abstracts- [ONLINE] DOI: https://doi.org/10.1136/jnnp-2014-309032.238
GATA4 mutations are a cause of neonatal and childhood-onset diabetes
Diabetes, vol. 63, no. 8, pp. 2888-2894Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.2337/db14-0061
Lymphocyte Telomere Length Is Long in BRCA1 and BRCA2 Mutation Carriers Regardless of Cancer-Affected Status
Cancer Epidemiology, Biomarkers and Prevention, vol. 23, no. 6, pp. 1018-1024Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1158/1055-9965.EPI-13-0635-T
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).
50th Annual Meeting of the American-Society-of-Clinical-OncologyContributions to Journals: AbstractsRegionally selective atrophy of subcortical structures in prodromal HD as revealed by statistical shape analysis
Human Brain Mapping, vol. 35, no. 3, pp. 792-809Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1002/hbm.22214
- [ONLINE] View publication in Scopus
Suicidal ideation in a European Huntington's disease population
Journal of Affective Disorders, vol. 151, no. 1, pp. 248-58Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1016/j.jad.2013.06.001
Cognitive reserve and brain reserve in prodromal Huntington's disease
Journal of the International Neuropsychological Society, vol. 19, no. 7, pp. 739-750Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1017/S1355617713000507
The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients
PloS ONE, vol. 8, no. 7, e68951Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1371/journal.pone.0068951
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE
Journal of the National Cancer Institute, vol. 105, no. 11, pp. 812-822Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1093/jnci/djt095
How Do Partners Find out About the Risk of Huntington's Disease in Couple Relationships?
Journal of genetic counseling, vol. 22, no. 3, pp. 336-344Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1007/s10897-012-9562-2
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Neurogenetics, vol. 14, no. 1, pp. 11-22Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1007/s10048-012-0349-2
3D MRI analysis of the lower legs of treated idiopathic congenital talipes equinovarus (clubfoot)
PloS ONE, vol. 8, no. 1, e54100Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1371/journal.pone.0054100
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/3489/1/3D_MRI_analysis.pdf
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
Nature, vol. 493, no. 7432, pp. 406-410Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/nature11725
High sensitivity detection of epidermal growth factor receptor (EGFR) T790M mutants in non-small-cell lung cancer
Lung Cancer, vol. 79, no. Supplement 1, pp. S7-S8Contributions to Journals: Abstracts- [ONLINE] DOI: https://doi.org/10.1016/S0169-5002(13)70021-7
Challenges in conducting a systematic review of the diagnostic accuracy of genetic tests: an example of the genetic diagnosis of familial hypercholesterolaemia
Cochrane ColloquiumContributions to Conferences: PostersDevelopment of the huntington disease work function scale
Journal of Occupational and Environmental Medicine, vol. 54, no. 10, pp. 1300-1308Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1097/JOM.0b013e31825f30ab
A nationwide screening programme for familial hypercholesterolaemia in Scotland using existing services
British Human Genetics Conference, pp. S115Contributions to Journals: AbstractsDepressive symptom severity is related to poorer cognitive performance in prodromal Huntington disease
Neuropsychology, vol. 26, no. 5, pp. 664-669Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1037/a0029218
Fostering, adoption and Huntington's disease: improving clients' experience
Plenary Meeting of the European-Huntington's-Disease-Network (EHDN), pp. A50Contributions to Journals: Abstracts- [ONLINE] DOI: https://doi.org/10.1136/jnnp-2012-303524.156
Prenatal diagnosis for Huntington's disease: a generation of testing
British Human Genetics Conference, pp. S69Contributions to Journals: AbstractsIs PATCHED an important candidate gene for neural tube defects?: Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report
Clinical Genetics, vol. 82, no. 1, pp. 71-76Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1111/j.1399-0004.2011.01725.x
Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
PloS ONE, vol. 7, no. 6, e35706Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1371/journal.pone.0035706
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/3503/1/Breast_cancer_risk.pdf
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