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Peer reivewed publications

Adrian Thorogood, Anna Middleton, Natasha Bonhomme, Manuel Corpas, Barbara Prainsack, Erika Kleiderman, Erick Scott, Jason Bobe, Sarah Nelson and Laura Rodriguez (2017) Let’s APPLaUD: Making patient/participant access to individual-level uninterpreted data possible (under review)


Kelly E. Ormond, Douglas P. Mortlock, Derek T. Scholes, Yvonne Bombard, Lawrence C. Brody, Andrew Faucett, Nanibaa’ A. Garrison, Laura Hercher, Rosario Isasi, Anna Middleton, Kiran Musunuru,mDaniel Shriner, Alice Virani, and Caroline E. Young (2017) Human Germline Genome Editing. American Journal Human Genetics 101: 1-10


Kathleen A. Calzone, Maggie Kirk, Emma Tonkin, Laurie Badzek, Caroline Benjamin, Anna Middleton (2017) The Global Landscape of Nursing and Genomics (under review)

Middleton A, Borra J, Parry V, Nevin-Ridley K, Sanders A, Rayner JC (2017) Mutation, variant or glitch? – translating genetics for patients (under review)

Sundby A, Boolsen MW, Burgdor KS, Ullum H, Hansen TF, Middleton A, Mors O (2017) Stakeholders in psychiatry and their attitudes toward receiving pertinent and incident findings in genomic research. American Journal Medical Genetics Aug 17. doi: 10.1002/ajmg.a.38380. [Epub ahead of print]


Consumer health informatics aspects of direct-to-consumer personal genomic testing (2017) Gray K, Stephen R, Terrill B, Wilson B, Middleton A, Tytherleigh R, Turbitt E, Gaff C, Savard J, Hickerton C, Newson A, Metcalfe S. Medinfo (accepted)

Parry V and Middleton A (2017) Socialising the Genome. Lancet Volume 389, No. 10079, p1603–1604

Wright C, Middleton A, Barrett JC, Firth HV, FitzPatrick DR, Hurles ME, Parker M (2017) Returning genome sequences to research participants: policy and practice. Wellcome Open Research 2:15 (doi: 10.12688/wellcomeopenres.10942.1)

Middleton A, Mendes Á, Benjamin CM, Howard HC (2017) Direct to consumer genetic testing - where and how does genetic counselling fit? Personalized Medicine Vol. 14, No. 3, 249-257

Middleton A (2017) Your DNA, Your Say. The New Bioethics 23:1, 74-80


Middleton A, Marks P, Bruce A, Protheroe-Davies L, King C, Claber O, Houghton C, Giffney C, Macleod R, Dolling C, Kenwrick S, Scotcher D, Hall G, Patch C, Boyes L (2017) The Role of Genetic Counsellors in Genomic Healthcare in the United Kingdom: A Statement by the Association of Genetic Nurses and Counsellors. European Journal Human Genetics online publication 22 March 2017; doi: 10.1038/ejhg.2017.28

Jeremy F McRae, Stephen Clayton, Tomas W Fitzgerald, et al....Anna Middleton (176th author) Prevalence and architecture of de novo mutations in developmental disorders (2017) Nature Published online 25 January 2017

Middleton A, Morley K, Bragin E, Firth HV, Hurles M, Wright CF, Parker M on behalf of the DDD study (2016) Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research European Journal Human Genetics 24(1): p21-9


Middleton A, Wright CF, Morley KI, Bragin E, Firth HV, Hurles ME, Parker M on behalf of the DDD study (2015) Potential research participants support the return of raw sequence data. Journal Medical Genetics 52(8): p571-574



Middleton A, Hall G, Patch C (2015) Genetic counsellors and Genomic Counselling in the United Kingdom. Molecular Genetics and Genomic Medicine 3(2) 79-83.


Middleton A, Parker M, Bragin E, Morley K, Wright C, Firth HV, Hurles M on behalf of the DDD study (2014) No expectation to share incidental findings in genomic research. Lancet 385(9975): p1289-1290


Wright CF, Fitzgerald TW, Jones WD, Clayton S, van Kogelenberg M, McRae JF, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Prigmore E, Rajan D, Swaminathan GJ, Tivey AR, Parthiban V, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR and Firth HV on behalf of the DDD study (2014) Genetic Diagnosis of Developmental Disorders: scalable analysis of genome-wide data. Lancet 385(9975): p1305-1314.


Fitzgerald TW, Gerety SS, Jones WD, van Kogelenberg M, King DA, McRae J, Morley KI, Parthiban V, Al-Turki S, Ambridge K, Barrett DM, Bayzetinova T, Clayton S, Coomber EL, Gribble S, Jones P, Krishnappa N, Mason LE, Middleton A et al (2014) Large-scale discovery of novel genetic causes of developmental disorders. Nature 519: p223–228


Middleton A, Bragin E, Morley KI, Parker M on behalf of the DDD Study (2014) Online questionnaire development: using film to engage participants and then gather attitudes towards the sharing of genomic data. Social Science Research 44: 211-223


Middleton A, Bragin E, Parker M on behalf of the DDD Study (2014) Finding people who will tell you their thoughts on genomics – recruitment strategies for social sciences research J Community Genetics. 5:291-302


Middleton A, Patch C, Wiggins J, Barnes K, Crawford G, Benjamin C, Bruce A on behalf of the Association of Genetic Nurses and Counsellors in the United Kingdom and Ireland (2014) Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland) European Journal Human Genetics 22: 955–956


Wright FC, Middleton A, Burton H, Cunningham F, Humphries SE, Hurst J, Birney E, Firth HV (2013) Opportunities and Challenges for Clinical Genome Sequencing BMJ 347:f6845


Middleton A, Parker M, Wright CF, Bragin E, Hurles M on behalf of the DDD Study (2013) Empirical Research on the Ethics of Genomic Research.  American Journal Medical Genetics Part A 161A:2099–2101

Middleton A, Emery S, Palmer C & Boudreault P (2013) Deaf Community and Genetics. In eLS. John Wiley & Sons, Ltd: Chichester, UK. DOI: 10.1002/9780470015902.a0005875.pub2

Middleton A (2012) Communication about DTC testing: commentary on a ‘Family Experience of Personal Genomics’.  Journal of Genetic Counseling 21(3):392-8

Middleton A, Alagaratnam N, Girling G, Phyo K M (2010) Communicating in a health care setting with people who have hearing loss.  BMJ  341:c4672


Middleton A, Emery SD, Turner GH (2010) Views, Knowledge and Beliefs about Genetics and Genetic Counselling amongst People with Deafness.  Sign Language Studies 10( 2) p 170-196

Emery SD, Middleton A, Turner GH (2010) Whose deaf genes are they anyway? The Deaf community challenge to legislation on embryo selection.  Sign Language Studies 10( 2) p 155-169

Middleton A, Turner GH, Bitner-Glindzicz M, Lewis P, Richards M, Clarke A, Stephens D (2010) Preferences for Communication in Clinic from Deaf People: a Cross-Sectional Study.  Journal of Evaluation in Clinical Practice 16(4) p 811-7

Blankmeyer Burke T, Emery S, Belk R, Middleton A, Turner G (2008) Response to Editorial Change and Stallworthy Letter.  BMJ published online 22 May 2008

Emery S, Blankmeyer Burke T, Middleton A, Belk R, Turner G (2008) Reproductive Liberty and Deafness: Clause 14(4)(9) of the UK Human Fertilisation and Embryology Bill should be amended or deleted.  BMJ 336:976 (3 May)

Middleton A, Cowley L, Clarke A (2007) Invited Editorial on Counselling Supervision.  Journal of Genetic Counseling 16(2) p123-125

AGNC Supervision Working Group (2007) Report from the UK and Eire Association of Genetic Nurses and Counsellors (AGNC) Supervision Working Group on Genetic Counselling Supervision.  Authors: Clarke A, Middleton A, Cowley L, Guilbert P, Macleod R, Clarke A, Tran V.  Journal of Genetic Counseling 16(2) p127-142

Middleton A, Wiles V, Downing S, Everest S, Kershaw A, Robathan S, Burton H, Landy A (2007) Reflections on the Experience of Counseling Supervision by a Team of Genetic Counselors from the UK.  Journal of Genetic Counseling 16(2) p143-155

Middleton A, Robson F, Burnell L, Ahmed M (2007) Providing a Transcultural Genetic Counseling Service in the UK.  Journal of Genetic Counseling 16(5) p567-582

Middleton A, (2006) Deaf Community and Genetics. In eLS. John Wiley & Sons, Ltd: Chichester, UK. doi :10.1002/9780470015902 .a0005875

Middleton A, Ahmed M, Levene S (2005) Tailoring genetic information and services to clients' culture, knowledge and language level. Nursing Standard 20(2) p52-56

Middleton A (2003) Deaf Community and Genetics. Nature Encyclopaedia of the Human Genome, Macmillan Reference Ltd, Nature Publishing, London Volume 1 p 1062-1064

Middleton A, Hewison J, Mueller R F (2001) Prenatal diagnosis for inherited deafness – what is the potential demand? Journal of Genetic Counseling 10(2) p121-131

Mueller R F, Nehammer A, Middleton A et al (1999) Congenital non-syndromal sensorineural hearing impairment due to Connexin 26 gene mutations – molecular and audiological findings. International Journal of Pediatric Otology 50(1) p3-13

Middleton A, Mueller R F, Hewison J (1999) Reply to Michie and Marteau. American Journal Human Genetics 65(4) p1207-8

Middleton A, Hewison J, Mueller R F (1998) Attitudes of deaf adults towards genetic testing for hereditary deafness. American Journal Human Genetics 63(4) p1175-1180

Middleton A, Hewison J, Mueller R F (1998) Attitudes of deaf adults towards testing in pregnancy for hereditary deafness. Deaf Worlds 14(3) p8

Middleton A (1998) Invited book review on "Culture, Kinship and Genetics" American Journal Human Genetics 63 p289-290


Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl H-HM, Middleton A et al (1997) Prelingual deafness: high prevalence of a 30delG mutation in the Connexin 26 gene. Human Molecular Genetics 6 p2173-2177

Anna Middleton
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