Journal papers

COVID-19 Research: Navigating the European General Data Protection Regulation

Becker R, Thorogood A, Ordish J. Journal of Medical Internet Research Vol 22. No 8 (2020). 27 August 2020

Understanding polygenic models, their development and the potential application of polygenic scores in healthcare

Babb de Villiers C, Kroese M, Moorthie S. Journal of Medical Genetics Online First. 6 May 2020.

Congenital disorders: epidemiological methods for answering calls for action

Modell B, Darlison M.W, Malherbe H, Moorthie S, Blencowe H, Mahaini R, El-Adawy M.

Journal of Community Genetics. 2018, Vol 9 issue 4, pp 335-340.

An overview of concepts and approaches used in estimating the burden of congenital disorders globally

Moorthie S, Blencowe H, Darlison M.W, Lawn J.E, Mastroiacovo P, Morris J.K, Modell B, Congenital Disorders Expert Group.

Journal of Community Genetics. 2018; Volume 9, Issue 4, pp347-362.

Methods to estimate access to care and the effect of interventions on the outcomes of congenital disorders

Blencowe H, Moorthie S, Darlison M.W, Gibbons S, Modell B, Congenital Disorders Expert Group.

Journal of Community Genetics. 2018; Volume 9 Issue 4, pp 363-376.

Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide

Moorthie S, Blencowe, H, Darlison M.W, Gibbons S, Lawn J.E, Mastroiacovo P, Morris J.K, Modell B, Congenital Disorders Expert Group.

Journal of Community Genetics. 2018; Volume 9 Issue 4, pp 377-386.

Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide

Moorthie S, Blencowe H, Darlison, M.W, Lawn J, Morris J.K, Modell, B, Congenital Disorders Expert Group.

Journal of Community Genetics. 2018; Volume 9 Issue 4, pp 387-396.

Genetic database software as medical devices

Thorogood A, Touré S.B, Ordish J, Hall A, Knoppers B.

Human Mutation. 2018; Vol. 39 Iss.11. pp1702-1712.

AI for health: Is there a regulatory gap?

Ordish J.

Digital Health Legal. June 2018; Volume: 5 Issue: 6.

Rare single gene disorders: estimating baseline prevalence and outcomes worldwide

Blencowe H, Moorthie S, Petrou M, Hamamy H, Povey S, Bittles A, Gibbons S, Darlison M, Modell B, Congenital Disorders Expert Group

Journal of Community Genetics. 2018; Volume 9 Issue 4, pp 397-406.

A response to the forensic genetics policy initiative’s report “Establishing Best Practice for Forensic DNA Databases”

Samuel, G, Howard H.C, Cornel M, van El C, Hall A, Forzano F, Prainsack B. 

Forensic Science International. 2018 5 July; Genetics (online).

Risk stratification, genomic data and the law

Hall A, Finnegan T, Susmita C et al.

J Community Genet. 2018;9:195. 

Better governance, better access: practising responsible data sharing in the METADAC governance infrastructure.

Murtagh M, B Mwenza, A Hall et al. 

Hum Genomics. 2018;12:24 

Risk stratification, genomic data and the law.

Hall A, Finnegan T, Chowdhury S, Dent T, Kroese M, Burton H. 

J Community Genet. 2018; https://doi.org/10.1007/s12687-018-0358-4. [Epub ahead of print]

Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis

Belncowe H, Kancherla V, Moorthie S, et al.

Annals of the New York Academy of Sciences. 2018 Jan 24; doi:10.1111/nyas.13548. [Epub ahead of print]

An overview of concepts and approaches used in estimating the burden of congenital disorders globally

Moorthie S, Blencowe H, W Darlison M, et al Congenital Disorders Expert Group. 

J Community Genet. 2017 Oct 11; doi: 10.1007/s12687-017-0335-3. [Epub ahead of print]

Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide.

Moorthie S, Blencowe H, Darlison MW, et al, Congenital Disorders Expert Group. 

J Community Genet. 2017 Sep 26; doi: 10.1007/s12687-017-0336-2. [Epub ahead of print]

Genomic medicine and data sharing

Raza S, Hall A.

Br Med Bull. 2017 Sep; 1;123(1):35-45.    

Exploring the potential duty of care in clinical genomics under UK law

Mitchell C, Ploem C, Chico V, Ormondroyd E, Hall A, Wallace S, Fay M, Goodwin D, Bell J, Phillips S, Taylor J.C, Hennekam R, Kaye J.  

Medical Law International. 2017 Aug 14 [Epub ahead of print]  

Lacerda, EM. Nacul, L. Pheby, D. Shepherd, C. Spencer, P. Exploring the feasibility of establishing a disease-specific post-mortem tissue bank in the UK: a case study in ME/CFS Journal of Clinical Pathology. 2010; doi:10.1136/jcp.2010.082032

Crawford G, Fenwick A, Foulds N, Hallowell N, Lucassen A. Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not Journal of Medical Genetics. 2013 Nov;15(11):896-9

Griffiths S, Hallowell N, Yeung Leung T, Yi H. Motivations for Undertaking a DNA Sequencing-Based Non-Invasive Prenatal Testing for Fetal Aneuploidy: Qualitative Study with Early Adopter Patients in Hong Kong PLOS One. 2013 Nov 27

Big data or bust - realising the microbial genomics revolution 

Luheshi L, Raza S.

Microbial Genomics. 18 December 2015; 10.1099/mgen.0.000046

Preconception Healthcare Delivery at a Population Level: Construction of Public Health Models of Preconception Care

Alberg C, Nacul L, Pashayan N, Shannon G.

Matern Child Health J. 2013 Nov 14.

Preconception Healthcare and Congenital Disorders: Systematic Review of the Effectiveness of Preconception Care Programs in the Prevention of Congenital Disorders

Alberg C, Nacul L, Pashayan N, Shannon G.  

Matern Child Health J. 2013 Oct 4.

What ethical and legal principles should guide the genotyping of children as part of a personalised screening programme for common cancer?

Chowdhury S, Hall A, Pashayan N, Pharoah P.  

Journal of Medical Ethics. 2013 Mar 1 [Epub ahead of print] PubMed PMID: 23454719

Ethical issues and best practice in clinically based genomic research: Exeter Stakeholders Meeting Report

Bewshea C, Carrieri D, Hall A, Walker G.  

J Med Ethics doi:10.1136/medethics-2016-103530

Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down’s syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units

Chitty LS, Wright D, Kroese M. et al 

BMJ. 2016 Jul 4;354:i3426.

Responsible implementation of expanded carrier screening

Henneman L, Borry P, Hall A.

Eur J Hum Genet. 2016 Jun; 24(6)w1-e12.

Systematic Review and Meta-analysis of the Birth Prevalence of Orofacial Clefts in Low and Middle Income Countries

Kadir A, Mossey PA, Blencowe H, Moorthie S et al.

Cleft Palate Caniofac J. 2016 Jul 19 [Epub ahead of print]

Association of Vasomotor and Other Menopausal Symptoms with Risk of Cardiovascular Disease: A systematic Review and Meta-Analysis

Muka T, Oliver-Williams C, Chowdhury S et al.

PloS One. 2016 Jun 17; 11(6):e0157417.

Known unknowns: building an ethics of uncertainty into genomic medicine

Gaff C, Hall A, Leonard S, Newson A.  

BMC Medical Genomics (2016) 9:57 DOI 10.1186/s12920-016-0219-0

Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study

Warren-Gash C, Kroese M, Burton H, Pharoah P.  

Hered Cancer Clin Pract. 2016 Jun; 1;14:12.

Preparing clinicians for genomic medicine

Burton H, Slade I.  

Postgrad Med J. 2016 Jul;92(1089):369-71. doi: 10.1136/postgradmedj-2016-133962. Epub 2016 Mar 21.

Pathogen genomics into practice: from promising research to real health impact

Moorthie S, Luheshi L. 

Microbiology Today. 2016 February; 43:1.

Moving pathogen genomics out of the lab and into the clinic: what will it take?

Luheshi L, Peacock S, Raza S.  

Genome Medicine. 30 December 2015; DOI: 10.1186/s13073-015-0254-z

Realising the promise of non-invasive prenatal testing

Chitty LS, Kroese M.

BMJ. 2015 Apr 10;350:1792.

Cost Effectiveness of Using Array-CGH for Diagnosing Learning Disability

Sagoo GS, Mohammed S, Barton G, Kroese M et al.

Applied Health Economics and Health Policy. 2015; 13,4, 421-432.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening 

de Wert G, Dondorp W, Hall A.

European Journal of Human Genetics. 2015 March 18.

Considerations in establishing a post-mortem brain and tissue bank for the study of myalgic encephalomyelitis/chronic fatigue syndrome: a proposed protocol

Bowman E, Goldring K, Gveric D, Hall A, Lacerda E, Nacul L, O'Donovan D, Pheby D.  

BMC Research Notes. 2014; (7):370.

Personalized medicine: what's in a name? 

Burton H, Hall A, Kroese M, Pokorska-Bocci A, Sagoo G, Stewart A.

Personalised Medicine. 2014; 11(2):197-210.

Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases

Moorthie S, Cameron L, Sagoo G, Bonham J, Burton H.  

Journal of Inherited Metabolic Disease. 2014 Nov; 37(6):889-898.

The impact of genetics on public health practice

Abubakar I, Burton H, Jackson C.  

British Medical Bulletin. 2014 Oct; 112(1):37-46.

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented accountability for reasonableness

Borry P, Cornel M, Kroese M, Severin F.  

European Journal of Human Genetics. 2014 Sept 24.

Beyond public health genomics: proposals from an international working group

Boccia S, Mc Kee M, Adany R, Boffetta P, Burton H, Cambon-Thomsen A, Cornel MC, Gray M, Jani A, Knoppers BM, Khoury MJ, Meslin EM, Van Dijn CM, Villari P, Zimmern R, Cesario A, Puggina A, Colotto M, Ricciardi W. 

Eur J Public Health. 2014 Dec; 24(6):877-9.    

Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues

Alberg C, Hall A, Hallowell N, Zimmern R.  

Journal of Medical Ethics. Epub 2014 Jul 18.

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

Boustred C, Chitty L, Daley R, Fisher J, Hill M, Howarth A, Kroese M, Lench N, Lewis C, Lo K, Mason S, Mckay F, Morris S, Plagnol V, Spencer K, Wright D.  

BMC Pregnancy Childbirth. 2014 Jul 16; 14:229.

From the lab to the maternity ward: how genetics can beat birth defects

Brice P.  

The Guardian. 2014 July 9.

A Toolkit to assess health needs for congenital disorders in low- and middle-income countries: an instrument for public health action

Nacul L,Stewart A, Alberg C, Chowdhury S, Burton H, Darlison MW, Grollman C, Hall A, Modell B, Moorthie S,  Sagoo G, .  

Journal of Public Health. 2014 June; 36(2):243-50. doi: 10.1093/pubmed/fdt048 : May 10, 2013 [Epub ahead of print]

Bahl R, Lawn J, Wall S. Newborn health research priorities beyond 2015 The Lancet. 2014 July 12;384(9938):e27-e29.

Preconception healthcare and congenital disorders: Systematic Review of the effectiveness of preconception care programs in the prevention of congenital disorders

Alberg C, Nacul L, Pashayan N, Shannon G.

Maternal and Child Health Journal. 2014 August; 18(6):1354-79.

Personalised medicine in the UK: challenges of implementation and impact on healthcare system

Burton H, Hall A, Kroese M, Pokorska-Bocci A, Sagoo G.  

Genome Medicine. 2014 Apr 25; 6(4):28.

What ethical and legal principles should guide the genotyping of children as part of a personalised screening programme for common cancer?

Burton H, Chowdhury S, Hall A, Pashayan N, Pharoah P.  

Journal of Medical Ethics. 2014 Mar; 40(3):163-7.

Issues concerning the evaluation and regulation of predictive genetic testing

Zimmern R. 

J Community Genet. 2014 Jan; 5(1):49-57.

Familial Hypercholesterolaemia: a pressing issue for European health care 

Aitman T, Brice P, Burton H, Edwards C, Humphries S.

Atherosclerosis. 2013 December; 231(2): 223-226

Recommendations for returning genomic incidental findings? We need to talk!

Bennett R, Botkin J, Burke W, Clayton E, Henderson G, Holm I, Jarvik G, Khoury M, Knoppers B, Matheny A, Press N, Ross L, Rothstein M, Saal H, Uhlmann W, Wilfond B, Wolf S, Zimmern R.  

Genet Medicine. 2013 Nov; 15(11):854-9.

Public health genomics and personalised prevention: lessons from the COGS project

Burton H, Chowdhury S, Dent T, Hall A, Pashayan N, Pharoah P.  

Journal of Internal Medicine. 2013 Nov; 274(5):451-6

Policy challenges of clinical genome sequencing

Birney E, Burton H, Cunningham F, Firth H, Hurst J, Middleton A, Wright C.  

British Medical Journal. 2013 Nov 22; 347:f6845.

Life insurance: genomic stratification and risk classification

Burton H, Chowdhury S, Dent T, Feze I, Foulkes W, Hall A, Hamet P, Joly Y, Kirwan N, Knoppers B, Macdonald A, Pashayan N, Simard J, Van Hoyweghen I.  

European Journal of Human Genetics. 2013 Oct 16. doi: 10.1038/ejhg.2013.228

Health needs assessment for congenital anomalies in middle-income countries: Examining the case for neural tube defects in Brazil

Schuler-Faccini L, Sanseverino M, de Rocha Azevedo L, Moorthie S, Alberg C, Burton H, Chowdhury S, Sagoo G, Nacul L.  

J Community Genet. 2013 Aug 30. [Epub ahead of print]

Implementing risk-stratified screening for common cancers: a review of potential ethical, legal and social issues

Burton H, Chowdhury S, Dent T, Hall A, Pashayan N, Pharoah P.  

Journal of Public Health (Oxf). 2013 Aug 28.

Systematic review of birth prevalence of neural tube defects in India

Bhide P, Sagoo G, Moorthie S. 

Birth Defects Res A Clin Mol Teratol. 2013 Jul; 97(7):437-43.

Health needs assessment for medical genetic services for congenital disorders in middle- and low-income nations

Christianson A, Zimmern R.  

J Community Genet. 2013 Jun 23 [Epub ahead of print] PMID: 23794314

Finnegan, Tom. Harvey, Kate. Jagadesham, Varsha. Joynson, Catherine. Mills, Peter. Perkins, Carol. Riley, Laura. Svenning Berg, Ranveig. Walker-Robson, Sarah. White, Johanna. Whittall, Hugh. Wright, Katharine.. Review of the Nuffield Council on Bioethics Report: Novel Techniques for the prevention of mitochondrial DNA disorders: an ethical review Genomics, Society and Policy 8:29-31 (2013)

Preconception health care and congenital disorders: mathematical modelling of the impact of a preconception care programme on congenital disorders

Alberg C, Nacul L, Pashayan N, Shannon G. 

BJOG. 2013 Apr; 120(5):555-66. doi: 10.1111/1471-0528.12116. Epub 2013 Jan 18.

Alsop K, Bowtell D, Crook A, Gleeson M, Hallowell N, Mitchell G, Plunkett L. The responses of research participants and their next of kin to receiving feedback of genetic test results following participation in the Australian Ovarian Cancer Study Genetics in Medicine. 2013; 15:458-465

Public health implications from COGS and potential for risk stratification and screening

Burton H, Chowdhury S, Dent T, Hall A, Pashayan N, Pharoah P.  

Nature Genetics. 2013 Apr; 45(4):349-51 doi: 10.1038/ng.2582. PubMed PMID: 23535723

Informatics and clinical genome sequencing: opening the black box

Moorthie S, Hall A, Wright C.  

Genet Medicine. 2013 Mar; 15(3):165-71.

Incorporating genomics into breast and prostate cancer screening: assessing the implications

Burton H, Chowdhury S, Dent T, Hall A, Hall P, Lyratzopoulos G, Pashayan N, Pharoah P.  

Genetics in Medicine. 2013 Feb 14 doi: 10.1038/gim.2012.167. [Epub ahead of print] PubMed PMID: 23412607.

The use of a toolkit for health needs assessment on neural tube defects in Argentina

Groisman B,  Liascovich R, Barbero P, Alberg C, Moorthie S, Nacul L,  Sagoo G.  

J Community Genet. 2013 Jan; 4(1):77-86.

Stratified cancer screening: the practicalities of implementation.

Burton H, Chowdhury S, Dent T, Eccles D, Eeles R, Hall A, Jbilou J, Lyratzopoulos G, Pashayan N, Pharoah P, Rafi I, Segnan N, T.

Public Health Genomics. 2013;16(3):94-9.

Next-generation sequencing in the clinic: are we ready?

Biesecker L, Burke W, Kohane I, Plon S, Zimmern R.  

Nat Rev Genet. 2012 Nov; 13(11):818-24. doi: 10.1038/nrg3357

Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis

Higgins J, Sagoo G, Wei Y, Wright C.  

BMC Res Notes. 2012 Sep; 1;5:476.

The impact of genomics on public health practice: the case for change

Khoury M, Zimmern R.  

Public Health Genomics. 2012; 15(3-4):118-24.

Bellingan L, Bellingham J, Sutherland W. A collaboratively-derived science-policy research agenda PLoS One. 2012;7(3):e31824

Brayne C, Dent T, Janssens A, Stephan B, Wright C. Risk Prediction Models: a framework for assessment Public Health Genomics. 2012; 15(2):98-105

Zenner D. Predictive power of Koplik's spots for the diagnosis of measles Journal of Infection in Developing Countries. 2, 2012; 6(3):271-275

The impact of whole genome sequencing on the NHS and population health

Pokorska-Bocci A.  

British Society for Human Genetics. Jan 2012; Newsletter No 46.

End of the Beginning and Public Health Pharmacogenomics: Knowledge in 'Mode 2' and P5 Medicine1

Burton H, Dove E, Fisher E, Masellis M, Ozdemir V, Warnich L, Wright C.  

Current Pharmacogenomics and Personalized Medicine. 2012 Jan 1; 10(1);1-6.

Genomics and individuals in public health practice: are we luddites or can we meet the challenge?

Zimmern R.  

Journal of Public Health (Oxf). 2011 Dec; 33(4):477-82.

Review of Massively Parallel DNA sequencing technologies

Mattocks C, Moorthie S, Wright C.  

The HUGO Journal. 2011.

Inherited cardiomyopathies

Alberg C, Behr E, Burton H, Raju H, Sagoo G.

British Medical Journal. 2011 Nov 21; 343:d6966. doi: 10.1136/bmj.d6966

Personalised Medicine: Lessons from Birth Defects and Single Gene Disorders

Burton H, Sanderson S.  

Current Pharmacogenetics & Personalised Medicine. 2011; 9(2): 80-83.

Dent T, Greenhalgh T, Mathur R, Meads C, Noble D. Risk models and scores for type 2 diabetes: systematic review British Medical Journal. 2011;343:d7163

Dent T. Educating about risk scores in primary care Education for Primary Care. 2011; 22: 291-292

Pashayan N, Pharoah P. Translating genomics into improved population screening - hype or hope? Human Genetics. 2011; doi:10.1007/s00439-011-0985-x

Campion P, Drachler M, Fayyaz S, Howe A, Leite J, Molokhia M, Poland F. Prevalence of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) in three regions of England: a repeated cross-sectional study in primary care BMC Medicine. 2011, 9:91 (28 July 2011)

Campion Peter, Curran Monica, de Carvalho Leite, José Carlos, de Lourdes Drachler Maria, Fayyaz Shagufta, Featherstone Valerie, Howe Amanda, Lacerda Eliana, Nacul Lius, Pheby Derek, Poland Fiona, Sakellariou Dikaios. A Disease Register for ME/CFS : Report of a Pilot Study BMC Research Notes. 2011, 4:139 doi:10.1186/1756-0500-4-139

Campion P, Drachler M, Fayyaz S, Howe A, Leite J, Molokhia M, Poland F. The functional status and well being of people with myalgic encephalomyelitis/chronic fatigue syndrome and their carers BMC Public Health. 2011, 11:402doi:10.1186/1471-2458-11-402

HLA-C, CSTA and DS12346 susceptibility alleles confer over 100-fold increased risk of developing psoriasis: evidence of gene interaction

Cork M, Sagoo G, Tazi-Ahnini R, Vasilopoulos Y, Walters K.  

Journal of Human Genetics. 2011 Mar; 17.

Interactive effects of antioxidant genes and air pollution on respiratory function and airway disease: a HuGE review

Burney P, Jarvis D, Minelli C, Sagoo G, Shaheen S, Wei I. 

American Journal of Epidemiology. vol 173 Iss 6 pp 603-620.

Polygenic susceptibility to prostate and breast cancer: implications for personalised screening

Burton H, Chowdhury S, Dent T, Duffy S, Easton D, Eeles R, Neal D, Pashayan N, Pharoah P. 

British Journal of Cancer. Advance online publication, 2011 April 5; doi:101038/bjc2011.118

Legal and ethical implications of inherited cardiac disease in clinical practice within the UK

Burton H, Hall A. 

Journal of Medical Ethics. 2010; 36: 762-766.

A framework for the prioritization of investment in the provision of genetic tests

Alberg C, Burton H, Kroese M, Lakshman R, Whittaker J.  

Public Health Genomics. 2010; 13 (7-8) 538-43.

Tay Sachs disease carrier testing in the UK Jewish population

Alberg C, Burton H, Levene S.  

British Journal of Midwifery. 2010; 18(4):220-224.

Extending the reach of public health genomics: What should be the agenda for public health in an era of genome-based and "personalized" medicine?

Burke W, Hall A, Karmali M, Khoury M, Knoppers B, Meslin E, Stanley F, Wright C, Zimmern R. 

Genetics in Medicine. 2010 Nov; Vol 15.

Regulating direct-to-consumer genetic tests: What is all the fuss about?

Hall A, Wright C, Zimmern R. 

Genetics in Medicine. 2010 Oct 1 [Epub ahead of print]

Realising the benefits of genetics for health

Brice P, Burton H, Stewart A, Wright C.  

The Lancet. 2010 Oct; 23;376(9750):1370-1.

Hitchcock J, Polak J, Prescott C. Chapter on the European stem cell patent landscape on commercialising regenerative medicine in "The delivery of regenerative medicines and their impact on healthcare" CRC Press. November 2010

Gregory-Jones S, Wright C. Size of the direct-to-consumer genomic testing market Genetics in Medicine. 2010 Sep;12(9):594