Our Work

Journal publications

You can access all of our work below. Use the tabs to view our: Published reports, Academic papers and Consultation responses.

Click on the title of an item to go to the page for that piece of work, where you can read a description of the work, download a free PDF or order a print copy where available.

The work listed here includes both PHG Foundation work and the key outputs from the ten years of the Public Health Genetics Unit (PHGU), the publicly-funded organisation that the PHG Foundation grew out of (for more information about our history see here).

For highlights of our recent work click here.

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2010 Journal publications
Mascalzoni D, Janssens A, Stewart A, Pramstaller P, Gyllensten U, Rudan I, Van Duijn C, Wilson J, Campbell H, McQuillan R. Comparison of participant information and informed consent forms of five European studies in genetic isolated populations. European Journal of Human Genetics. (in press)
2009 Journal publications
Wright C, Kroese M. Evaluation of genetic tests for susceptibility to common complex diseases: why, when and how?. Human Genetics. 2009; doi:10
Wright C, Hall A, Matthews F, Brayne C. Biomarkers, Dementia, and Public Health. Annals of the New York Academy of Sciences. 2009; 118:11-19
Burton H, Alberg C, Moore T. Genetics in ophthalmology: equity in service provision?. Journal of Public Health. 2009; doi: 10
Burton H, Adams M, Bunton R, Schroeder-Baeck P. Developing stakeholder involvement for introducing public health genomics into public policy. Public Health Genomics. 2009 12:11-19

Go to PubMed reference
Burton H, Adams M. Professional education and training in public health genomics: a working policy developed on behalf of Public Health Genomics European Network. Public Health Genomics. 2009;12(4):216-24

Go to PubMed reference
Burton H, Wright C, Zimmern R. A new strategic phase for genomic medicine in UK health services. Genome Medicine. 2009 Oct 12;1(10):93

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Zimmern R. Genomic medicine: the future is now. Lessons for Hong Kong from the House of Lords Report on Genomic Medicine. Hong Kong Medical Journal. 2009 Oct;15(5):324-5

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Wright C, Chitty L. Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing. British Medical Journal. 2009; 339: 161-164

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Sagoo G, Little J, Higgins J. Systematic reviews of genetic association studies. PLoS Medicine. 2009 Mar 3;6(3):e28

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Sagoo G, Butterworth A, Sanderson S, Shaw-Smith C, Higgins J, Burton H. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects. Genetics in Medicine. 2009 Mar;11(3): 139-46

Go to PubMed reference
Zimmern R. Testing challenges: evaluation of novel diagnostics and molecular biomarkers. Clinical Medicine. 2009 Feb 9(1): 68-73

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2008 Journal publications
Wright C, Burton H. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Human Reproduction Update. 2008 Oct 22 [Epub ahead of print]

Go to PubMed reference
Melzer D, Hogarth S, Liddell K, Ling T, Sanderson S, Zimmern R. Genetic tests for common diseases: new insights, old concerns. British Medical Journal. 2008 Mar 15;336(7644):590-3

Go to article summary on BMJ website
2007 Journal publications
Burke W, Zimmern R, Kroese M. Defining purpose: a key step in genetic test evaluation. Genetics in Medicine. 2007 9(10):675-681

Click here for full text pdf. (courtesy of Lippincott, Williams and Wilkins publishers)
Khoury M, Gwinn M, Burke W, Bowen S, Zimmern R. Will genomics widen or help heal the schism between medicine and public health?. American Journal of Preventive Medicine. 2007 Oct; 33(4):310-17

Go to PubMed reference (full text access requires subscription to journal)
Kroese M, Zimmern R, Pinder S. HER2 status in breast cancer - an example of pharmacogenetic testing. Journal of the Royal Society of Medicine. 2007 Jul;100(7):326-9

Go to Entrez PubMed reference (full text access requires subscription to journal)
Kroese M, Zimmern R. The evaluation of genetic tests. Journal of Public Health. 2007 May 24; [Epub ahead of print]

Go to PubMed abstract
Bennett C, Burton H, Farndon P. Competences, education and support for new roles in cancer genetics services: outcomes from the cancer genetics pilot projects. Familial Cancer. 2007 6(2):171-80
2006 Journal publications
Higgins J, Ioannidis J, Little J, Gwinn M, Zimmern R. A roadmap for developing an efficient and credible human genome epidemiology. Nature Genetics. 2006;38(1):3-5
Sanderson S. Joint effects of NAT1, NAT2 genes and smoking on bladder carcinogenesis: a HuGE literature-based systematic review and evidence synthesis. American Journal of Epidemiology. 2006
Stewart A, Zimmern R. Public health genomics: origins and basic concepts. Italian Journal of Public Health. 2006; 3, 9-15
Green A, Burton H, Preece M, Sanderson S. The frequency of inherited metabolic disorders in the West Midlands, United Kingdom. Archives of Disease in Childhood. 2006

(In press)
Shortland G, Burton H, Sanderson S, Lee P. Needs assessment and review of services for people with inherited metabolic disease in the United Kingdom. Journal of Inherited Metabolic Disease. 2006
Burke W, Khoury M, Stewart A, Zimmern R, Bellagio Group . The path from genome-based research to population health: development of an international public health genomics network. Genetics In Medicine. 2006 Jul;8(7):451-8

(courtesy of Lippincott, Williams and Wilkins publishers)
Sagoo G, Subramonia-Iyer S, Sanderson S, Higgins J, Burton H, Brice P. Array-based comparative genomic hybridisation for investigating chromosomal abnormalities in patients with learning disability: meta-analysis of diagnostic and false positive yields. Genetics In Medicine. 2006
2005 Journal publications
Burton H, Zimmern R. Education in the genetics era: genetics education for health professionals - an essential component of genetics policy. Medical Education. 2005;39(3):243-4
Corrigan O. Pharmacogenetics, ethical issues: review of the Nuffield Council on Bioethics Report. Journal of Medical Ethics. 2005;31(3):144-8
Dutta I, Brice P, Wallace S. Knowledge sharing and 'genomic' healthcare. Nature Biotechnology. 2005;23(2):169-70
Hall A, Liddell K. Beyond Bristol and Alder Hey: The Future Regulation of Human Tissue. Medical Law Review. 2005;Summer:170-223
Liddell K, Wallace S. Emerging Regulatory Issues for Human Stem Cell Medicine. Genomics, Society and Policy. 2005;1(1):54-73
Raven A, Melzer D, Ling T, Detmer D, Zimmern R. Pharmacogenetics: policy needs for personal prescribing. Journal of Health Services Research and Policy. 2005;10(1):40-4
Sanderson S, Emery J, Higgins J. CYP2C9 gene variants, drug dose, and bleeding risk in warfarin-treated patients: A HuGEnet trade mark systematic review and meta-analysis. Genetics In Medicine. 2005;7(2):97-104
Higgins J, Sanderson S, Zimmern R, Kroese M, Patch C, Emery J. How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom. Genetics in Medicine. 2005;7(7):495-500
2004 Journal publications
Zimmern R, Burke W. Ensuring the appropriate use of genetic tests. Nature Reviews Genetics. 2004;5(12):955-8
Kroese M, Zimmern R. Genetic tests and their evaluation: Can we answer the key questions? Genetics in Medicine. 2004;6(6):475-80
Menon D, Liddell K, Zimmern R. The Human Tissue Bill and the Mental Capacity Bill. British Medical Journal. 2004;328(7455):1510-1
Wallace S, Morgan M. The international human genome project: an overview. .

2004. ed. Oxford: Rowman and Littlefield; p. 265-75
Cross-cultural biotechnology. A reader.
In: Brannigan MC, editor.
Tutton R, Corrigan O. Genetic Databases: Social-ethical issues in the collection and use of DNA. 2004.

London: Routledge.
2003 Journal publications
Burton H, Shuttleworth A. Genetics education for primary health care nurses. Primary Health Care. 2003;13(4):35-8
Burton H, Stewart A. From Mendel to the Human Genome Project: the implications for nurse education. Nurse Education Today. 2003;23(5):380-5
Metcalfe A, Burton H. Postregistration genetics education provision for nurses, midwives and health visitors. Journal of Advanced Nursing. 2003;44(4):350-9
Watson L, Burton H, Brice P. The NHS in the era of genetics: implications for community practitioners. Community Practitioner. 2003;76(8):288-90
Burton H, Shuttleworth A, Metcalfe A. Genetics education for nurses, midwives and health visitors. Professional Nurse. 2003;18(12):676-80
Burton H, Kroese M. Gene genies. Health Service Journal. 2003;113(5868):29
Burton H, Shuttleworth A. Genetics education for pharmacists. The Pharmaceutical Journal 2003;270(7232):84-5.
Burton H, Shuttleworth A. Genetics education for midwives. Royal College of Midwives. 2003;6(4):162-4
Corrigan O, Williams-Jones B. The bioethical problem of DNA investment banking. Studies in History and Philosophy of Biological and Biomedical Science. 2003;In press
Corrigan O. Empty ethics: the problem with informed consent. Sociology of Health & Illness. 2003;25(3):768-92
Liddell K. Purposive interpretation and the march of genetic technology. Case comment on the R v HFEA 2 W.L.R. (cell nuclear transfer case). Cambridge Law Journal. 2003;62(3):563-6
McMillan J, Hope T. Gametes, money, and egg sharing. The Lancet. 2003;362(9383):584
Detmer D, Melzer D, Zimmern R, Ling T. Regulatory options for pharmacogenetics. Pharmacogenomics. 2003;4(5):527-30
Melzer D, Detmer D, Zimmern R. Pharmacogenetics and public policy: expert views in Europe and North America. Pharmacogenomics. 2003;4(6):689-91
Stewart A, Zimmern R. (Almost) three cheers for UK genetics White Paper. The Lancet. 2003;362(9381):341-2
Williams-Jones B, Corrigan O. Rhetoric and hype: Where's the "ethics" in pharmacogenomics? American Journal of Pharmacogenomics. 2003;3(6):375-83
2002 Journal publications
Austin M, Zimmern R, Humphries S. High "population attributable fraction" for coronary heart disease mortality among relatives in monogenic familial hypercholesterolemia. Genetics in Medicine. 2002;4(4):275-8
Burke W, Emery J. Science and society: Genetics education for primary-care providers. Nature Reviews Genetics. 2002;3(7):561-6
Melzer D, Zimmern R. Genetics and medicalisation. British Medical Journal. 2002;324(7342):863-4
Pharoah P, Antoniou A, Bobrow M, Zimmern R, Easton D, Ponder B. Polygenic susceptibility to breast cancer and implications for prevention. Nature. 2002;31(1):33-6

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