Journal papers
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Ethical and legal considerations influencing human involvement in the implementation of artificial intelligence in a clinical pathway: A multi-stakeholder perspective. Elizabeth Redrup Hill, Colin Mitchell, Tanya Brigden and Alison Hall. Frontiers in Digital Health. 2023 March. https://doi.org/10.3389/fdgth.2023.1139210
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Public Preferences for Determining Eligibility for Screening in Risk-Stratified Cancer Screening Programs: A Discrete Choice Experiment. Dennison RA, Taylor LC, Morris S, Boscott RA, Harrison H, Moorthie SA, Rossi SH, Stewart GD, Usher-Smith JA. Med Decis Making. 2023 Feb 14:272989X231155790. doi: 10.1177/0272989X231155790. Online ahead of print
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Proactive breast cancer risk assessment in primary care: a review based on the principles of screening. Usher-Smith JA, Hindmarch S, French DP, Tischkowitz M, Moorthie S, Walter FM, Dennison RA, Stutzin Donoso F, Archer S, Taylor L, Emery J, Morris S, Easton DF, Antoniou AC.
Br J Cancer. 2023 Feb 3:1-11. doi: 10.1038/s41416-023-02145-w. Online ahead of print. -
A Scoping Review of Approaches to Improving Quality of Data Relating to Health Inequalities. Moorthie S, Peacey V, Evans S, Phillips V, Roman-Urrestarazu A, Brayne C, Lafortune L.
Int J Environ Res Public Health. 2022 Nov 29;19(23):15874. doi: 10.3390/ijerph192315874 -
Becker, R., Chokoshvili, D., Comandé, G., Dove, E.S., Hall, A., Mitchell, C., Molnár-Gábor, F., Nicolàs, P., Tervo, S. and Thorogood, A., 2022. European Journal of Health Law, 1(aop), pp.1-29.
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Lessons from the pandemic for the future regulation of confidential patient information for research
Colin Mitchell and Alison Hall. Journal of the Royal Society of Medicine. 2023;0(0).
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Melissa Hill; Sian Ellard; Jane Fisher; Naomi Fulop; Marian Knight; Mark Kroese; Jean Ledger; Kerry Leeson-Beevers; Alec McEwan; Dominic McMullan; Laura Blackburn et al. [version 2; peer review: 2 approved]. NIHR Open Res 2022, 2:10
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Moorthie S, Hayat S, Zhang Y, Parkin K, Philips V, Bale A, Duschinsky R, Ford T, Moore A.
BMC Public Health. 2022 Jun 28;22(1):1263. doi: 10.1186/s12889-022-13187-9. -
Applying GDPR roles and responsibilities to scientific data sharing
Regina Becker, Adrian Thorogood, Jasper Bovenberg, Colin Mitchell, Alison Hall, International Data Privacy Law, Volume 12, Issue 3, August 2022, Pages 207–219
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Dennison R.A., Boscott R.A., Thomas R, Griffin S.J., Harrison H, John S.D., Moorthie S.A., Morris S, Rossi S.H., Stewart G.D., Thomas C.V., Usher-Smith J.A.. Health Expect. 8 May 2022.
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Moorthie S, Babb de Villiers C, Burton H, Kroese M, Antoniou A.C., Bhattacharjee P, Garcia-Closas M, Hall P, Schmidt M.K.. Preventive Medicine, Vol 159. 6 May 2022.
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Schmutzler R.K., Schmitz-Luhn B, Borisch B, Devilee P, Eccles D, Hall P, Balmaña J, Boccia S, Dabrock P, Emons G, Gaissmaier W, Gronwald J, Houwaart S, Huster S, Kast K, Katalinic A, Linn S.C., Moorthie S, Pharoah P, Rhiem K, Spranger T, Stoppa-Lyonnet D, van Delden J.J.M., van den Bulcke M, Woopen C. Breast Care. April 2022.
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Moorthie S, Hall A, Babb de Villiers C, Janus J, Brigden T, Blackburn L, Kroese M. Future Medicine. 15 March 2022.
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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
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Babb de Villiers C, Kroese M, Moorthie S. Journal of Medical Genetics Online First. 6 May 2020.
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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.
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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.
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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.
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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.
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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.
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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.
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AI for health: Is there a regulatory gap?
Ordish J.
Digital Health Legal. June 2018; Volume: 5 Issue: 6.
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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.
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Samuel, G, Howard H.C, Cornel M, van El C, Hall A, Forzano F, Prainsack B.
Forensic Science International. 2018 5 July; Genetics (online).
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Risk stratification, genomic data and the law
Hall A, Finnegan T, Susmita C et al.
J Community Genet. 2018;9:195.
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Murtagh M, B Mwenza, A Hall et al.
Hum Genomics. 2018;12:24
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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]
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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]
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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]
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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]
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Genomic medicine and data sharing
Raza S, Hall A.
Br Med Bull. 2017 Sep; 1;123(1):35-45.
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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]
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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
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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
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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
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Alberg C, Nacul L, Pashayan N, Shannon G.
Matern Child Health J. 2013 Oct 4.
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Chowdhury S, Hall A, Pashayan N, Pharoah P.
Journal of Medical Ethics. 2013 Mar 1 [Epub ahead of print] PubMed PMID: 23454719
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Big data or bust - realising the microbial genomics revolution
Luheshi L, Raza S.
Microbial Genomics. 18 December 2015; 10.1099/mgen.0.000046
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Alberg C, Nacul L, Pashayan N, Shannon G.
Matern Child Health J. 2013 Nov 14.
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Bewshea C, Carrieri D, Hall A, Walker G.
J Med Ethics doi:10.1136/medethics-2016-103530
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Chitty LS, Wright D, Kroese M. et al
BMJ. 2016 Jul 4;354:i3426.
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Responsible implementation of expanded carrier screening
Henneman L, Borry P, Hall A.
Eur J Hum Genet. 2016 Jun; 24(6)w1-e12.
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Kadir A, Mossey PA, Blencowe H, Moorthie S et al.
Cleft Palate Caniofac J. 2016 Jul 19 [Epub ahead of print]
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Muka T, Oliver-Williams C, Chowdhury S et al.
PloS One. 2016 Jun 17; 11(6):e0157417.
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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
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Warren-Gash C, Kroese M, Burton H, Pharoah P.
Hered Cancer Clin Pract. 2016 Jun; 1;14:12.
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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.
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Pathogen genomics into practice: from promising research to real health impact
Moorthie S, Luheshi L.
Microbiology Today. 2016 February; 43:1.
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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
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Realising the promise of non-invasive prenatal testing
Chitty LS, Kroese M.
BMJ. 2015 Apr 10;350:1792.
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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.
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de Wert G, Dondorp W, Hall A.
European Journal of Human Genetics. 2015 March 18.
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Bowman E, Goldring K, Gveric D, Hall A, Lacerda E, Nacul L, O'Donovan D, Pheby D.
BMC Research Notes. 2014; (7):370.
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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.
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Moorthie S, Cameron L, Sagoo G, Bonham J, Burton H.
Journal of Inherited Metabolic Disease. 2014 Nov; 37(6):889-898.
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The impact of genetics on public health practice
Abubakar I, Burton H, Jackson C.
British Medical Bulletin. 2014 Oct; 112(1):37-46.
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Borry P, Cornel M, Kroese M, Severin F.
European Journal of Human Genetics. 2014 Sept 24.
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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.
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Alberg C, Hall A, Hallowell N, Zimmern R.
Journal of Medical Ethics. Epub 2014 Jul 18.
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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.
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From the lab to the maternity ward: how genetics can beat birth defects
Brice P.
The Guardian. 2014 July 9.
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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]
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Bahl R, Lawn J, Wall S. Newborn health research priorities beyond 2015 The Lancet. 2014 July 12;384(9938):e27-e29.
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Alberg C, Nacul L, Pashayan N, Shannon G.
Maternal and Child Health Journal. 2014 August; 18(6):1354-79.
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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.
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Burton H, Chowdhury S, Hall A, Pashayan N, Pharoah P.
Journal of Medical Ethics. 2014 Mar; 40(3):163-7.
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Issues concerning the evaluation and regulation of predictive genetic testing
J Community Genet. 2014 Jan; 5(1):49-57.
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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
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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.
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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
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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.
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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
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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]
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Burton H, Chowdhury S, Dent T, Hall A, Pashayan N, Pharoah P.
Journal of Public Health (Oxf). 2013 Aug 28.
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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.
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Christianson A, Zimmern R.
J Community Genet. 2013 Jun 23 [Epub ahead of print] PMID: 23794314
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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)
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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.
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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
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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
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Informatics and clinical genome sequencing: opening the black box
Moorthie S, Hall A, Wright C.
Genet Medicine. 2013 Mar; 15(3):165-71.
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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.
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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.
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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.
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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
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Higgins J, Sagoo G, Wei Y, Wright C.
BMC Res Notes. 2012 Sep; 1;5:476.
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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.
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Bellingan L, Bellingham J, Sutherland W. A collaboratively-derived science-policy research agenda PLoS One. 2012;7(3):e31824
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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
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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
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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.
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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.
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Genomics and individuals in public health practice: are we luddites or can we meet the challenge?
Journal of Public Health (Oxf). 2011 Dec; 33(4):477-82.
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Review of Massively Parallel DNA sequencing technologies
Mattocks C, Moorthie S, Wright C.
The HUGO Journal. 2011.
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Alberg C, Behr E, Burton H, Raju H, Sagoo G.
British Medical Journal. 2011 Nov 21; 343:d6966. doi: 10.1136/bmj.d6966
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Personalised Medicine: Lessons from Birth Defects and Single Gene Disorders
Burton H, Sanderson S.
Current Pharmacogenetics & Personalised Medicine. 2011; 9(2): 80-83.
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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
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Dent T. Educating about risk scores in primary care Education for Primary Care. 2011; 22: 291-292
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Pashayan N, Pharoah P. Translating genomics into improved population screening - hype or hope? Human Genetics. 2011; doi:10.1007/s00439-011-0985-x
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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)