![Clarke Clarke](https://profiles-cardiff.imgix.net/attachments/656?w=200&h=200&auto=format&crop=faces&fit=crop&q=90")
Professor Clarke Clarke
Emeritus Professor
- Media commentator
- Available for postgraduate supervision
Overview
I am a clinical geneticist working both as a professor in the Division of Cancer & Genetics (50%) and as (honorary) consultant in the All Wales Medical Genomics Service (50%).
My academic work is divided between research, teaching and scholarship. I have research interests in a few specific genetic disorders (especially Rett syndrome and ectodermal dyslasia) and in the genetic counselling process. I study what goes on in the genetic counselling clinic, processes of family communication, and broader topics such as stigmatisation in relation to physical appearance. I established and co-direct the Cardiff University MSc course in Genetic Counselling (in 2000) and continue to be involved now that it has become the MSc course in Genetic & Genomic Counselling. I also teach undergraduate medical students and intercalating students. I usually support one or two PhD students.
My clinical work includes 'general genetics' clinics held in Cardiff and Rhondda and specialist clinics in Cadiff, with a focus on Huntington's disease, muscle disease and Rett syndrome. This work includes some aspects of disease management as well as addressing the questions and concerns of patients and families regarding the genetics of their disorder.
I have a broader role in the Cardiff & Vale University Health Board as chair of the Clinical Ethics Committee and as an organiser of the UK Genethics Forum.
I am often also engaged in work on public and professional policies in relation to genetic disorders. This has involved recent and current projects for the European Society of Human Genetics, the Nuffield Council on Bioethics and the British Society for Genetic Medicine.
In addition to the usual academic publications in journals, I have produced ten books as author or editor:
*Clarke A. 2020. Harper’s Practical Genetic Counselling (8th edition). Taylor & Francis
*Dagmar Schmitz, Angus Clarke, Wybo Dondorp (Eds). 2018. The Fetus as a Patient: A Contested Concept and its Normative Implications. Abingdon: Routledge
*Kaufmann WE, Percy AK, Clarke AJ, Leonard H, Naidu SB (Eds.). 2017. Rett Syndrome. London: McKeith Press (Clinics in Developmental Medicine Series)
*Arribas-Ayllon M, Sarangi S, Clarke A. 2011. Genetic Testing. London: Routledge
*Clarke A, Ticehurst F (eds.) 2006. Living with the Genome. Ethical and Social Aspects of Human Genetics. Basingstoke and New York: Palgrave Macmillan
*Featherstone K, Bharadwaj A, Clarke A, Atkinson P. 2006. Risky Relations. Family and Kinshipnin the Era of New Genetics. Oxford: Berg Publishers
*Clarke A (ed) 1998 The Genetic Testing of Children. Oxford: Bios Scientific Publishers
*Harper PS, Clarke A 1997 Genetics, Society and Clinical Practice. Oxford: Bios
*Clarke A, Parsons EP (eds) 1997 Culture, Kinship and Genes. Basingstoke: Macmillan
*Clarke A (ed). 1994. "Genetic Counselling: practice and principles". London: Routledge
Publication
2024
- Horn, R. et al. 2024. Ethical and social implications of public-private partnerships in the context of genomic/big health data collection. Journal of Genetic Counseling 32, pp. 736-741. (10.1038/s41431-024-01608-9)
- Ellard, H., Clarke, A., Wynn, S., Pichini, A. and Lewis, C. 2024. Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation. European Journal of Human Genetics (10.1038/s41431-024-01636-5)
- Ballard, L. M., Doheny, S., Dimond, R., Lucassen, A. M. and Clarke, A. J. 2024. Predictive genetic testing for Huntington's disease: Exploring participant experiences of uncertainty and ambivalence between clinic appointments. Journal of Genetic Counseling (10.1002/jgc4.1911)
- Chaouch, A. et al. 2024. Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions. European Journal of Human Genetics 32(3), pp. 260-262. (10.1038/s41431-023-01520-8)
- Hedgecoe, A., Job, K. and Clarke, A. 2024. Taking after a parent: phenotypic resemblance and the professional familialisation of genomics. Sociology of Health & Illness 46(2), pp. 257-275. (10.1111/1467-9566.13699)
- Johnson, K. et al. 2024. A holistic approach to fragile X syndrome integrated guidance for person‐centred care. Journal of Applied Research in Intellectual Disabilities 37(3), article number: e13214. (10.1111/jar.13214)
2023
- Jain, V. et al. 2023. Börjeson–Forssman–Lehmann syndrome: Delineating the clinical and allelic spectrum in 14 new families. European Journal of Human Genetics 31, pp. 1421-1429. (10.1038/s41431-023-01447-0)
- Perrot, A., Clarke, A., Vassy, C. and Horn, R. 2023. Women's preferences for NIPT as a first‐line test in England and France: challenges for genetic counseling practices. Journal of Genetic Counseling (10.1002/jgc4.1839)
- Clarke, A. 2023. Commentary on Eichinger J, Zimmermann B, Elger B, McLennan S, Filges I, Koné I. 2023. 'It's a nightmare': informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland.. Nature (10.1038/s41431-023-01490-x)
- Hedgecoe, A., Job, K. and Clarke, A. 2023. Reflexive standardization and the resolution of uncertainty in the genomics clinic. Social Studies of Science 53(3), pp. 358-378. (10.1177/03063127231154863)
- Vockley, J. et al. 2023. Response to Beretich and Beretich. Genetics in Medicine (10.1016/j.gim.2023.100903)
- Clarke, A. 2023. Terminology and consistency. The American Journal of Bioethics 23(3), pp. 53-55. (10.1080/15265161.2023.2169401)
- Cornel, M. C. and Clarke, A. 2023. New year, new goals for the journal?. Journal of Community Genetics 14(1), pp. 1-3. (10.1007/s12687-023-00637-z)
- Schneider, H. et al. 2023. Protocol for the phase 2 EDELIFE trial investigating the efficacy and safety of intra-amniotic ER004 administration to male subjects with x-linked hypohidrotic ectodermal dysplasia. Genes 14(1), article number: 153. (10.3390/genes14010153)
- Friedrich, B., Vindrola-Padros, C., Lucassen, A., Patch, C., Clarke, A., Lakhanpaul, M. and Lewis, C. 2023. "A very big challenge": A qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England. Frontiers in Genetics 14, article number: 1282034. (10.3389/fgene.2023.1282034)
2022
- Forzano, F. et al. 2022. Correction to: Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'. European Journal of Human Genetics (10.1038/s41431-022-01263-y)
- Peschel, N. et al. 2022. Molecular pathway-based classification of ectodermal dysplasias: first five-yearly update. Genes 13(12), article number: 2327. (10.3390/genes13122327)
- Forzano, F. et al. 2022. Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’. European Journal of Human Genetics 31(3), pp. 279-281. (10.1038/s41431-022-01241-4)
- Levy, M. A. et al. 2022. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Human Mutation: Variation, Informatics and Disease 43(11), pp. 1609-1628. (10.1002/humu.24446)
- Coorey, B., Haase, F., Ellaway, C., Clarke, A., Lisowski, L. and Gold, W. A. 2022. Gene editing and Rett syndrome: does it make the cut?. The CRISPR Journal 5(4), pp. 490-499. (10.1089/crispr.2022.0020)
- Amin, S. et al. 2022. International consensus recommendations for the assessment and management of individuals with CDKL5 deficiency disorder. Frontiers in Neurology 13, article number: 874695. (10.3389/fneur.2022.874695)
- Forzano, F. et al. 2022. The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice. European Journal of Human Genetics 30, pp. 493-495. (10.1038/s41431-021-01000-x)
- Clarke, A. J. and van El, C. G. 2022. Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine. Human Genetics 141, pp. 1099-1107. (10.1007/s00439-022-02453-w)
- Vockley, J. et al. 2022. The evolving role of medical geneticists in the era of gene therapy: an urgency to prepare. Genetics in Medicine 25(4), article number: 100022. (10.1016/j.gim.2023.100022)
- McNeill, A. et al. 2022. Predictive genetic testing for Motor neuron disease: time for a guideline?. European Journal of Human Genetics 30(6), pp. 635-636. (10.1038/s41431-022-01093-y)
- Arribas-Ayllon, M., Shelton, K. and Clarke, A. 2022. Can genomics remove uncertainty from adoption? Social workers' and medical advisors' accounts of genetic testing. British Journal of Social Work 52(2), pp. 719-737., article number: bcab017. (10.1093/bjsw/bcab017)
- Dimond, R., Doheny, S. and Clarke, A. 2022. Genetic testing and family entanglements. Social Science & Medicine 298, article number: 114857. (10.1016/j.socscimed.2022.114857)
- Lewis, C. et al. 2022. Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol [version 2; peer review: 3 approved, 1 approved with reservations]. NIHR Open Research 1, article number: 23. (10.3310/nihropenres.13236.2)
- Levy, M. A. et al. 2022. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. Human Genetics and Genomics Advances 3(1), article number: 100075. (10.1016/j.xhgg.2021.100075)
2021
- Ting, M. S. O., Clarke, A. and McAllister, M. 2021. Assessing sensitivity to change of the genomics outcome scale (GOS). Journal of Genetic Counseling 30(6), pp. 1767-1772. (10.1002/jgc4.1429)
- Schmitz, D. and Clarke, A. 2021. Ethics experts and fetal patients: a proposal for modesty. BMC Medical Ethics 22(1), article number: 161. (10.1186/s12910-021-00730-3)
- Mendes, ?., Sequeiros, J. and Clarke, A. J. 2021. Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late-onset neurological diseases. Journal of Genetic Counseling 30(5), pp. 1480-1490. (10.1002/jgc4.1415)
- Gaille, M., Horn, R. and Clarke, A. 2021. The ethics of genomic medicine: redefining values and norms in the UK and France. European Journal of Human Genetics 29(5), pp. 780–788. (10.1038/s41431-020-00798-2)
- Klöckner, C. et al. 2021. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genetics in Medicine 23, pp. 653-660. (10.1038/s41436-020-01020-w)
- de Wert, G. et al. 2021. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. European Journal of Human Genetics 29, pp. 365-377. (10.1038/s41431-020-00758-w)
2020
- Waite, A. J., Millar, D. and Clarke, A. 2020. The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene. Stem Cell Research 49, article number: 102018. (10.1016/j.scr.2020.102018)
- McClatchey, M. A. et al. 2020. Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation. European Journal of Medical Genetics 63(9), article number: 103972. (10.1016/j.ejmg.2020.103972)
- Rizzo, R., Van Den Bree, M., Challenger, A., Cuthbert, A., Arribas-Ayllon, M., Clarke, A. and Thompson, R. 2020. Co-creating a knowledge base in the “22q11.2 deletion syndrome” community. Journal of Community Genetics 11(1), pp. 101-111. (10.1007/s12687-019-00425-8)
- Arribas-Ayllon, M., Clarke, A. and Shelton, K. 2020. Professionals’ accounts of genetic testing in adoption: a qualitative study. Archives of Disease in Childhood 105(1), pp. 74-79. (10.1136/archdischild-2019-316911)
2019
- Fellmann, F. et al. 2019. European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. European Journal of Human Genetics 27, pp. 1763-1773. (10.1038/s41431-019-0445-y)
- Hammersen, J. et al. 2019. Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography. Prenatal Diagnosis 39(9), pp. 796-805. (10.1002/pd.5384)
- Wadrup, F. et al. 2019. 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 27, pp. 1215-1224. (10.1038/s41431-019-0375-8)
- Piña-Aguilar, R. E. et al. 2019. 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. Genetics in Medicine 21, pp. 1639-1643. (10.1038/s41436-018-0367-z)
- Grant, P. E., Pampaka, M., Payne, K., Clarke, A. and McAllister, M. 2019. Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale. European Journal of Medical Genetics 62(5), pp. 324-334. (10.1016/j.ejmg.2018.11.015)
- Gorman, K. M. et al. 2019. Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia. American Journal of Human Genetics 104(5), pp. 948-956. (10.1016/j.ajhg.2019.03.005)
- Frullanti, E. et al. 2019. Analysis of the phenotypes in the Rett Networked Database. International Journal of Genomics 2019, article number: 6956934. (10.1155/2019/6956934)
- Goldenberg, A. J. et al. 2019. Including ELSI research questions in newborn screening pilot studies. Genetics in Medicine 21, pp. 525-533. (10.1038/s41436-018-0101-x)
- Mendes, ?., Paneque, M., Clarke, A. and Sequeiros, J. 2019. Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease. European Journal of Human Genetics 27, pp. 353-359. (10.1038/s41431-018-0308-y)
- Wright, J. T. et al. 2019. Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. American Journal of Medical Genetics Part A 179(3), pp. 442-447. (10.1002/ajmg.a.61045)
- Clarke, A. J. and Wallgren-Pettersson, C. 2019. Ethics in genetic counselling. Journal of Community Genetics 10, pp. 3-33. (10.1007/s12687-018-0371-7)
- Abdulbari, B., Al-Mulla, M. and Clarke, A. 2019. Premarital screening and genetic counseling program: studies from an endogamous population. International Journal of Applied and Basic Medical Research 9(1), pp. 20-26. (10.4103/ijabmr.IJABMR_42_18)
2018
- Faschingbauer, F. et al. 2018. Accuracy of prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography. European Journal of Ultrasound / Ultraschall in der Medizin 39(S01), article number: S25. (10.1055/s-0038-1670428)
- Carrieri, D. et al. 2018. Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. European Journal of Human Genetics 27, pp. 169-182. (10.1038/s41431-018-0285-1)
- Mendes, ?., Metcalfe, A., Paneque, M., Sousa, L., Clarke, A. J. and Sequeiros, J. 2018. Communication of information about genetic risks: putting families at the center. Family Process 57(3), pp. 836-846. (10.1111/famp.12306)
- Clarke, A. J. and Abdala Sheikh, A. P. 2018. A perspective on "cure" for Rett syndrome. Orphanet Journal of Rare Diseases 13(1), article number: 44. (10.1186/s13023-018-0786-6)
- de Wert, G. et al. 2018. Human germline gene editing: Recommendations of ESHG and ESHRE. European Journal of Human Genetics 26, pp. 445-449. (10.1038/s41431-017-0076-0)
- De Wert, G. et al. 2018. Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE. European Journal of Human Genetics 26, pp. 450-470. (10.1038/s41431-017-0077-z)
- Quarrell, O. W. et al. 2018. Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177(1), pp. 35-39. (10.1002/ajmg.b.32582)
- Doheny, S. et al. 2018. Dimensions of responsibility in medical genetics: exploring the complexity of the “duty to recontact”. New Genetics and Society 37(3), pp. 187-206. (10.1080/14636778.2018.1510309)
2017
- Hector, R. D. et al. 2017. CDKL5 variants Improving our understanding of a rare neurologic disorder. Neurology Genetics 3(6), article number: e200. (10.1212/NXG.0000000000000200)
- Ross, L. F. and Clarke, A. J. 2017. A historical and current review of newborn screening for neuromuscular disorders from around the world: lessons for the United States. Pediatric Neurology 77, pp. 12-22. (10.1016/j.pediatrneurol.2017.08.012)
- Carrieri, D., Dheensa, S., Doheny, S., Clarke, A., Turnpenny, P. D., Lucassen, A. M. and Kelly, S. E. 2017. Recontacting in clinical practice: the views and expectations of patients in the United Kingdom. European Journal of Human Genetics 25(10), pp. 1106-1112. (10.1038/ejhg.2017.122)
- Dheensa, S., Carrieri, D., Kelly, S., Clarke, A., Doheny, S., Turnpenny, P. and Lucassen, A. 2017. A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation. European Journal of Medical Genetics 60(7), pp. 403-409. (10.1016/j.ejmg.2017.05.001)
- Mendes, ?., Sousa, L., Sequeiros, J. and Clarke, A. 2017. Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal. Social Science & Medicine 182, pp. 73-80. (10.1016/j.socscimed.2017.04.026)
- Low, K. J. et al. 2017. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. European Journal of Human Genetics 25(5), pp. 552-559. (10.1038/ejhg.2017.27)
- Molster, C. M. et al. 2017. Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments. Frontiers in Public Health 5, article number: 25. (10.3389/fpubh.2017.00025)
- McRae, J. F. et al. 2017. Prevalence and architecture of de novo mutations in developmental disorders. Nature 542, pp. 433-438. (10.1038/nature21062)
- Clarke, A. 2017. Genetic information in medicine: Its generation, significance, and use. In: Schramme, T. and Edwards, S. eds. Handbook of the Philosophy of Medicine. Dordrecht: Springer, pp. 303-323., (10.1007/978-94-017-8688-1_13)
- Cianfaglione, R., Hastings, R., Felce, D., Clarke, A. J. and Kerr, M. 2017. Change over a 16-month period in the psychological well-being of mothers of girls and women with Rett syndrome. Developmental Neurorehabilitation 20(5), pp. 261-265. (10.3109/17518423.2016.1142483)
2016
- Hryniemiecka-Jaworska, A., Foden, E., Kerr, M. P., Felce, D. J. and Clarke, A. J. 2016. Prevalence and associated features of depression in women with Rett Syndrome. Journal of Intellectual Disability Research 60(6), pp. 564-570. (10.1111/jir.12270)
- Clarke, A. J. 2016. Anticipated stigma and blameless guilt: mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). Social Science & Medicine 158, pp. 141-148. (10.1016/j.socscimed.2016.04.027)
- Baig, S. S. et al. 2016. 22 years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium. European Journal of Human Genetics 24, pp. 1396-1402. (10.1038/ejhg.2016.36)
- Tooley, M. et al. 2016. Cerebro-Costo-Mandibular syndrome: Clinical, radiological and genetic findings. American Journal of Medical Genetics Part A 170(5), pp. 1115-1126. (10.1002/ajmg.a.37587)
- Burke, K. and Clarke, A. 2016. The challenge of consent in clinical genome-wide testing. Archives of Disease in Childhood 101, pp. 1048-1052. (10.1136/archdischild-2013-304109)
- Fry, A. E. et al. 2016. Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. BMC Medical Genetics 17, pp. -., article number: 34. (10.1186/s12881-016-0294-2)
- Cianfaglione, R., Meek, A., Clarke, A. J., Kerr, M. P., Hastings, R. P. and Felce, D. J. 2016. Direct observation of the behaviour of females with Rett Syndrome. Journal of Developmental and Physical Disabilities 28(3), pp. 425-441. (10.1007/s10882-016-9478-0)
- Mendes, ?., Paneque, M., Sousa, L., Clarke, A. J. and Sequeiros, J. 2016. How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence. European Journal of Human Genetics 24(3), pp. 315-325. (10.1038/ejhg.2015.174)
- Cianfaglione, R., Clarke, A. J., Kerr, M. P., Hastings, R., Oliver, C. and Felce, D. J. 2016. Ageing in Rett syndrome. Journal of Intellectual Disability Research 60(2), pp. 182-190. (10.1111/jir.12228)
- Taylor-Phillips, S. et al. 2016. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open 6(1), article number: e010002. (10.1136/bmjopen-2015-010002)
- Clarke, A. J. 2016. Genetic information in medicine: Its generation, significance and use. In: Schramme, T. and Edwards, S. eds. Handbook of the Philosophy of Medicine.. Springer Science+Business Media (Dordrecht )
- Taylor-Phillips, S. et al. 2016. Systematic review and cost-consequence assessment of cell-free fetal DNA testing for T21, T18 and T13 in the UK ? Final report, UK National Screening Committee. Project Report. UK National Screening Committee.
2015
- Cianfaglione, R., Hastings, R. P., Felce, D. J., Clarke, A. J. and Kerr, M. P. 2015. Psychological well-being of mothers and siblings in families of girls and women with Rett Syndrome. Journal of Autism and Developmental Disorders 45(9), pp. 2939-2946. (10.1007/s10803-015-2457-y)
- Jorge, S., Sahra, G. and Clarke, A. J. 2015. Genetics and ethics in Latin America. Journal of Community Genetics 6(3), pp. 185-187. (10.1007/s12687-015-0241-5)
- Rodas-Perez, C., Clarke, A. J., Powell, J. and Thorogood, M. 2015. Challenges for providing genetic counselling in Colombian genetic clinics: the viewpoint of the physicians providing genetic consultations. Journal of Community Genetics 6(3), pp. 301-311. (10.1007/s12687-015-0237-1)
- Cianfaglione, R., Clarke, A. J., Kerr, M. P., Hastings, R. P., Oliver, C. and Felce, D. J. 2015. A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health. American Journal of Medical Genetics Part A 167(7), pp. 1493-1500. (10.1002/ajmg.a.37027)
- Nissenkorn, A. et al. 2015. Epilepsy in Rett syndrome-Lessons from the Rett networked database. Epilepsia 56(4), pp. 569-576. (10.1111/epi.12941)
- Cianfaglione, R. et al. 2015. A national survey of Rett syndrome: behavioural characteristics. Journal of Neurodevelopmental Disorders 7, article number: 11. (10.1186/s11689-015-9104-y)
- Deans, Z., Newson, A. and Clarke, A. J. 2015. For your interest? The ethical acceptability of using non-invasive prenatal testing to test 'purely for information'. Bioethics 29(1), pp. 19-25. (10.1111/bioe.12125)
- Burke, K. and Clarke, A. 2015. Genetic screening. In: Henk, t. H. ed. Encyclopedia of Global Bioethics. Springer Reference
2014
- Salinas, C. et al. 2014. Second international conference on a classification of ectodermal dysplasias: Development of a multiaxis model. American Journal of Medical Genetics Part A 164(10), pp. 2482-2489. (10.1002/ajmg.a.36507)
- Clarke, A. 2014. Managing the ethical challenges of next-generation sequencing in genomic medicine. British Medical Bulletin 111(1), pp. 17-30. (10.1093/bmb/ldu017)
- Shipman, H. E., Sarangi, S. and Clarke, A. 2014. Accounts of consent: orienting to self-other relations regarding motivations to participate in cancer bio-banking. Communication & Medicine 11(1), pp. 69-84. (10.1558/cam.v11i1.17324)
- Williamson, K. A. et al. 2014. Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. American Journal of Human Genetics 94(2), pp. 295-302. (10.1016/j.ajhg.2014.01.001)
2013
- Mantovani, R. et al. 2013. A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti. PLoS ONE 8(12), article number: e81625. (10.1371/journal.pone.0081625)
- Clarke, A. J. 2013. Stigma, self-esteem and reproduction: Talking with men about life with Hypohidrotic Ectodermal Dysplasia. Sociology 47(5), pp. 887-905. (10.1177/0038038513493536)
- Kosicka-Slawinska, M., Clarke, A. J. and Lashwood, A. 2013. Preimplantation genetic diagnosis: understanding what parents plan to tell their children about their conception. Journal of Genetic Counselling 22(5), pp. 576-586. (10.1007/s10897-013-9585-3)
- Clarke, A. 2013. How much further can large international databases take Rett syndrome research?. Developmental Medicine & Child Neurology 55(6), pp. 494-495. (10.1111/dmcn.12105)
2012
- Arribas-Ayllon, M., Sarangi, S. K. and Clarke, A. J. 2012. Accounting for genetic testing: familial and professional perspectives. eLS, pp. 171-184. (10.1002/9780470015902.a0024171)
- Clarke, A. J. 2012. Commentary on predictive genetic testing of minors: by Mand et al. Journal of Medical Ethics 38(9), pp. 527-528. (10.1136/medethics-2012-100598)
- Grillo, E. et al. 2012. Rett networked database: An integrated clinical and genetic network of rett syndrome databases. Human Mutation 33(7), pp. 1031-1036. (10.1002/humu.22072)
- Armani, R. et al. 2012. Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome. American Journal of Medical Genetics Part A 158A(4), pp. 713-719. (10.1002/ajmg.a.34206)
2011
- Cardoza, B. et al. 2011. Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice. Seizure - European Journal of Epilepsy 20(8), pp. 646-649. (10.1016/j.seizure.2011.06.010)
- Arribas-Ayllon, M., Sarangi, S. K. and Clarke, A. J. 2011. Promissory strategies of personalisation in the commercialisation of genomic knowledge. Communication & Medicine 8(1), pp. 53-66. (10.1558/cam.v8i1.53)
- Arribas-Ayllon, M., Sarangi, S. K. and Clarke, A. J. 2011. Genetic testing: accounts of autonomy, responsibility and blame. Genetics and Society. London: Routledge.
- Sarangi, S., Brookes-Howell, L., Bennert, K. and Clarke, A. J. 2011. Psychological and sociomoral frames in genetic counseling for predictive testing. In: Sarangi, S. K., Candlin, C. and Knapp, K. eds. Handbook of Communication in Organisations and Professions. Handbooks of Applied Linguistics Vol. 3. Berlin: De Gruyter Mouton, pp. 235-257.
- Sarangi, S. K., Clarke, A. J. and Verrier-Jones, K. 2011. Voicing the Lifeworld: Parental Accounts of Responsibility in Genetic Consultations for Polycystic Kidney Disease. Social Science & Medicine 72(11), pp. 1743-1751. (10.1016/j.socscimed.2010.06.040)
- Clarke, A. J. and Thirlaway, K. 2011. Genetic counselling for personalised medicine. Human Genetics 130(1), pp. 27-31. (10.1007/s00439-011-0988-7)
- Clarke, A. J. 2011. Genetic counseling, testing and screening. In: Kuhse, H. and Singer, P. eds. A Companion to Bioethics (2nd revised ed.). Blackwell Companions to Philosophy Chichester: Blackwell, pp. 245-259., (10.1002/9781444307818.ch22)
2010
- Middleton, A., Turner, G. H., Bitner-Glindzicz, M., Lewis, P., Richards, M., Clarke, A. J. and Stephens, D. 2010. Preferences for communication in clinic from deaf people: a cross-sectional study. Journal of Evaluation in Clinical Practice 16(4), pp. 811-817. (10.1111/j.1365-2753.2009.01207.x)
- Clarke, A., Sarangi, S. K. and Verrier-Jones, K. 2010. Voicing the Lifeworld: Parental Accounts of Responsibility in Genetic Consultations for Polycystic Kidney Disease. Social Science and Medicine 72(11), pp. 1743-1751.
- Clarke, A. J. 2010. Genetic testing of children with a family history of progressive neurologic disease [Abstract]. Child: Care, health and development 36(s1), pp. 30. (10.1111/j.1365-2214.2009.01058.x)
- Neul, J. L. et al. 2010. Rett syndrome: revised diagnostic criteria and nomenclature. Annals of Neurology 68(6), pp. 944-950. (10.1002/ana.22124)
- Clarke, A. J., Hendicott, B., MacSorley, P. and Frayling, I. M. 2010. ‘Mainstreaming’ and the impact on clinical taxonomy: a clinical perspective on the introduction of new genetic tests. In: Weiser, B. and Berger, W. eds. Assessing Life: on the Organisation of Genetic Testing. Science and technology studies Vol. 59. München: Profil Verlag, pp. 133-154.
- Clarke, A. J. and Cooper, D. N. 2010. GWAS: heritability missing in action?. European Journal of Human Genetics 18(8), pp. 859-861. (10.1038/ejhg.2010.35)
2009
- Arribas-Ayllon, M., Sarangi, S. K. and Clarke, A. J. 2009. Professional ambivalence: accounts of ethical practice in childhood genetic testing. Journal of Genetic Counselling 18(2), pp. 173-84. (10.1007/s10897-008-9201-0)
- Clarke, A. J. 2009. How is genetic profiling going to impact the practice of paediatrics in the future? [Abstract]. Child: Care, Health and Development 36(s1), pp. 19. (10.1111/j.1365-2214.2009.01058.x)
- Clarke, A. J. 2009. What is at stake in the predictive genetic testing of children?. Familial Cancer 9(1), pp. 19-22. (10.1007/s10689-009-9260-x)
- Borry, P., Evers-Kiebooms, G., Cornel, M. C., Clarke, A. J. and Dierickx, K. 2009. Genetic testing in asymptomatic minors background considerations towards ESHG recommendations. European Journal of Human Genetics 17(6), pp. 711-719. (10.1038/ejhg.2009.25)
2008
- Kerr, M. P., Cardoza, B., Wilcox, J., Clarke, A. J., Gibbon, F. and Smith, P. E. M. 2008. Epilepsy in Retts syndrome: a study of the association between phenotype and genotype [Abstract]. Journal of Intellectual Disability Research 52(8-9), pp. 658. (10.1111/j.1365-2788.2008.01084.x)
- Arribas-Ayllon, M., Sarangi, S. and Clarke, A. J. 2008. Managing self-responsibility through other-oriented blame: family accounts of genetic testing. Social Science & Medicine 66(7), pp. 1521-1532. (10.1016/j.socscimed.2007.12.022)
- Edwards, A. G. et al. 2008. Interventions to improve risk communication in clinical genetics: systematic review. Patient Education and Counseling 71(1), pp. 4-25. (10.1016/j.pec.2007.11.026)
- Arribas-Ayllon, M., Sarangi, S. K. and Clarke, A. J. 2008. The micropolitics of responsibility vis-à-vis autonomy: parental accounts of childhood genetic testing and (non)disclosure. Sociology of Health & Illness 30(2), pp. 255-271. (10.1111/j.1467-9566.2007.01037.x)
- Sivell, S. et al. 2008. How risk is perceived, constructed and interpreted by clients in clinical genetics, and the effects on decision making: systematic review. Journal of Genetic Counselling 17(1), pp. 30-63. (10.1007/s10897-007-9132-1)
- Arribas-Ayllon, M., Sarangi, S. K. and Clarke, A. J. 2008. Professional ambivalence: accounts of ethical practice in childhood genetic testing. Working paper. Cardiff: Cardiff University. Available at: http://www.caerdydd.ac.uk/socsi/resources/wp108.pdf
- Arribas-Ayllon, M., Sarangi, S. K. and Clarke, A. J. 2008. The politics of autonomy in genetic testing of children. Working paper. Cardiff: Cardiff University. Available at: http://www.caerdydd.ac.uk/socsi/resources/wp107.pdf
- Clarke, A. J. 2008. Genetic testing and genomic screening. In: Kumar, D. and Weatherall, D. eds. Genomics and clinical medicine. Oxford monographs on medical genetics Oxford: Oxford University Press, pp. 595-612.
- Clarke, A. J. and Gaff, C. L. 2008. Challenges in the genetic testing of children for familial cancers. Archives of Disease in Childhood 93(11), pp. 911-914. (10.1136/adc.2006.113381)
- Payne, Y. et al. 2008. Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales The South Wales Cystic Fibrosis Carrier Screening Research Team. Clinical Genetics 51(3), pp. 153-163. (10.1111/j.1399-0004.1997.tb02445.x)
- Clarke, A. J., Parsons, E. P. and Williams, A. 2008. Outcomes and process in genetic counselling. Clinical Genetics 50(6), pp. 462-469. (10.1111/j.1399-0004.1996.tb02713.x)
2007
- Gaff, C. L. et al. 2007. Process and outcome in communication of genetic information within families: a systematic review. European Journal of Human Genetics 15(10), pp. 999-1011. (10.1038/sj.ejhg.5201883)
- Clarke, A. J., Archer, H. L., Leonard, H. and Evans, J. 2007. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X chromosome inactivation. Journal of Medical Genetics 44(2), pp. 148-152. (10.1136/jmg.2006.045260)
- Clarke, A. J. and Davies, D. M. 2007. Clinical genetics. In: Levene, M. I. ed. MRCPCH MasterCourse., Vol. 1. Edinburgh: Churchill Livingstone (Elsevier), pp. 86-100.
- Clarke, A. J. 2007. Ethical and social issues in clinical genetics. In: Rimoin, D. L. et al. eds. Emery and Rimoin's Principles and Practice of Medical Genetics (5th ed.). Edinburgh: Churchill Livingstone, pp. 799-824.
- Clarke, A. J. 2007. Genetic counselling. In: Ashcroft, E. et al. eds. Principles of Health Care Ethics (2nd ed.). Chichester: John Wiley, pp. 427-434.
- Clarke, A. J. and Murray, A. 2007. The ethics of population screening. In: Cartlidge, P. ed. Ethical, Legal and Social Aspects of Healthcare. Edinburgh: Elsevier, pp. 169-173.
2006
- Räisänen, U., Bekkers, M., Boddington, P., Sarangi, S. and Clarke, A. J. 2006. The causation of disease? The practical and ethical consequences of competing explanations. Medicine, Health Care and Philosophy 9(3), pp. 293-306. (10.1007/s11019-006-9007-5)
- Clarke, A. J. and Ticehurst, F. L. eds. 2006. Living with the genome. Ethical and social aspects of human genetics. Palgrave Macmillan.
- Latimer, J. E., Featherstone, K., Atkinson, P. A., Clarke, A. J., Pilz, D. T. and Shaw, A. 2006. Rebirthing the clinic: the interaction of clinical judgment and genetic technology in the production of medical science. Science technology & human values 31(5), pp. 599-630. (10.1177/0162243906289613)
- Clarke, A. J., Ravine, D., Evans, J. C. and Whatley, S. D. 2006. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett Syndrome. Journal of Medical Genetics 43(5), pp. 451-456. (10.1136/jmg.2005.033464)
- Featherstone, K., Atkinson, P. A., Bharadwaj, A. and Clarke, A. J. 2006. Risky relations: family, kinship and the new genetics. Oxford: Berg.
- Bharadwaj, A., Prior, L., Atkinson, P., Clarke, A. J. and Worwood, M. 2006. The genetic iceberg: risk and uncertainty. In: Webster, A. ed. New Technologies in Health Care: Challenge, Change and Innovation. Health, Technology and Society Basingstoke: Palgrave MacMillan, pp. 11-24.
- Bharadwaj, A., Atkinson, P. and Clarke, A. J. 2006. Medical classification and the experience of genetic haemochromatosis. In: Atkinson, P., Glasner, P. and Greenslade, H. eds. New Genetics, New Identities. Genetics and Society Abingdon: Routledge, pp. 120-138.
2005
- Evans, J. C. et al. 2005. Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics 13(10), pp. 1113-1120. (10.1038/sj.ejhg.5201451)
- Featherstone, K., Latimer, J. E., Atkinson, P. A., Pilz, D. T. and Clarke, A. J. 2005. Dysmorphology and the spectacle of the clinic. Sociology of Health & Illness 27(5), pp. 551-574. (10.1111/j.1467-9566.2005.00456.x)
- Clarke, A. J. et al. 2005. Genetic professionals' reports of nondisclosure of genetic risk information within families. European Journal of Human Genetics 13(5), pp. 556-562. (10.1038/sj.ejhg.5201394)
- Parsons, E. P., Moore, C. B., Israel, J. A., Hood, K., Clarke, A. J. and Bradley, D. M. 2005. Emphasizing parental choice on newborn screening. British Journal of Midwifery 13(3), pp. 165-168.
- Archer, H. L. et al. 2005. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Journal of Medical Genetics 43(5), pp. 451-456. (10.1136/jmg.2005.033464)
2004
- Parsons, E. P., Clarke, A. J. and Bradley, D. M. 2004. Developmental progress in Duchenne muscular dystrophy: lessons for earlier detection. European Journal of Paediatric Neurology 8(3), pp. 145-153. (10.1016/j.ejpn.2004.01.009)
- Sarangi, S. K., Bennert, K., Howell, L., Clarke, A. J., Harper, P. S. and Gray, J. 2004. Initiation of reflective frames in counselling for Huntington's Disease predictive testing. Journal of Genetic Counselling 13(2), pp. 135-155. (10.1023/B:JOGC.0000018823.60761.e0)
- Clarke, A. J. 2004. On dissecting the genetic basis of behaviour and intelligence. In: Rees, D. and Rose, S. eds. The New Brain Sciences: Perils and Prospects. Cambridge: Cambridge University Press, pp. 181-194., (10.1017/CBO9780511541698.012)
2003
- Parsons, E. P., Clarke, A. J. and Bradley, D. M. 2003. Implications of carrier identification in newborn screening for cystic fibrosis. Archives of Disease in Childhood 88(6), pp. 467-471. (10.1136/fn.88.6.F467)
- Gill, H. et al. 2003. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. Journal of Medical Genetics 40(5), pp. 380-384. (10.1136/jmg.40.5.380)
- Sarangi, S. K., Bennert, K., Howell, L. and Clarke, A. J. 2003. 'Relatively Speaking' : relativisation of genetic risk in counselling for predictive testing. Health, Risk & Society 5(2), pp. 155-170. (10.1080/1369857031000123939)
- Clarke, A. J., Sarangi, S. K., Bennert, K. and Howell, L. 2003. Categorisation practices across professional boundaries: some analytic insights from genetic counselling. Presented at: Annual Meeting of the British Association for Applied Linguistics, Cardiff, UK, September 2002 Presented at Sarangi, S. K. and Leeuwen, T. eds.Applied Linguistics and Communities of Practice: selected papers from the Annual Meeting of the British Association for Applied Linguistics, Cardiff University, September 2002. British Studies in Applied Linguistics London: Continuum pp. 150-168.
2002
- Sarangi, S. K. and Clarke, A. J. 2002. Zones of expertise and the management of uncertainty in genetics risk communication. Research on Language and Social Interaction 35(2), pp. 139-171. (10.1207/S15327973RLSI3502_2)
- Parsons, E. P., Clarke, A. J., Hood, K., Lycett, E. J. and Bradley, D. M. 2002. Newborn screening for Duchenne muscular dystrophy: a psychosocial study. Archives of Disease in Childhood. Fetal and neonatal edition 86(2), pp. 91-95. (10.1136/fn.86.2.F91)
- Clarke, A. J. 2002. Congenital (structural) myopathies. In: Rimoin, D. L. et al. eds. Emery & Rimoin's Principles and Practice of Medical Genetics (4th ed.). Edinburgh: Churchill Livingstone, pp. 3321-3348.
- Clarke, A. J. 2002. Ethical and social issues in clinical genetics. In: Rimoin, D. L. et al. eds. Emery & Rimoin's Principles and Practice of Medical Genetics (4th ed.). Edinburgh: Churchill Livingstone, pp. 897-928.
- Clarke, A. J. 2002. Genetic counselling, testing and screening: issues for health services, for health professionals and for our clients. Presented at: Between Technology and Humanity: The Impact of Technology on Health Care Ethics, Brussels, Belgium, 18-19 October 2002 Presented at Gastmans, C. ed.Between technology and humanity: the impact of technology on health care ethics. Leuven: Leuven University Press pp. 97-117.
2001
- Sarangi, S. K., Howell, L., Bennert, K., Clarke, A. J., Harper, P. S. and Gray, J. 2001. The negotiation of therapeutic frames in counselling for predictive genetic testing. Journal of Medical Genetics 38(Sup.1), pp. S23.
2000
- Lazarou, L. P., Myring, J., Knight, S. J. L., Gardner, A. P. and Clarke, A. J. 2000. Fragile X (E) syndrome. how common is it?. Journal of Medical Genetics 37(Supp 1), pp. S66-S66.
- Clarke, A. J. 2000. Non-directiveness in genetic counselling?. Journal of Medical Genetics 37(Supp 2), pp. A11-A11.
- Featherstone, K., Atkinson, P. A. and Clarke, A. J. 2000. Practical kinship and the disclosure of genetic information. Journal of Medical Genetics 37(Supp 2), pp. A15-A15.
- Ravine, D. et al. 2000. Uniparental disomy, molecular and social difficulties in interpretation. Journal of Medical Genetics 37(Supp 1), pp. S65-S65.
- Gray, J. et al. 2000. A model protocol evaluating the introduction of genetic assessment for women with a family history of breast cancer. Journal of Medical Genetics 37(3), pp. 192-196. (10.1136/jmg.37.3.192)
- Brain, K. E. et al. 2000. Why do women attend familial breast cancer clinics?. Journal of Medical Genetics 37(3), pp. 197-202. (10.1136/jmg.37.3.197)
- Cheadle, J. P. et al. 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human Molecular Genetics 9(7), pp. 1119-1129. (10.1093/hmg/9.7.1119)
- Watts, P., Rees, M. I., Clarke, A. J., Beck, L., Lane, C. M., Owen, M. J. and Gray, J. 2000. Linkage analysis in an autosomal dominant 'zonular nuclear pulverulent' congenital cataract, mapped to chromosome 13q11-13. Eye 14(2), pp. 172-175. (10.1038/eye.2000.48)
- Elwyn, G., Gray, J. and Clarke, A. J. 2000. Shared decision making and non-directiveness in genetic counselling. Journal of Medical Genetics 37(2), pp. 135-138. (10.1136/jmg.37.2.135)
- Clarke, A. J. 2000. The biology of mitochondrial disease. Archives of Disease in Childhood 82(5), pp. 339-340. (10.1136/adc.82.5.339)
1999
- Procter, A. M., Clarke, A. J. and Harper, P. S. 1999. Attitudes to genetic testing in childhood in England and Wales. American Journal of Human Genetics 65(4), pp. A407-A407.
- Eason, C., Parsons, E. P., Clarke, A. J. and Bradley, D. M. 1999. The social impact for families of a positive newborn screening result for cystic fibrosis. Journal of Medical Genetics 36(Supp 1), pp. S70-S70.
- Hughes, E., Lazarou, L. P., Morgan, D. E., Thomas, N. S. T., Clarke, A. J., Meredith, A. L. and Ravine, D. 1999. Mutation detection in patients with X-linked ectodermal dysplasia. Journal of Medical Genetics 36(Supp 1), pp. S94-S94.
- Procter, A., Clarke, A. J. and Harper, P. S. 1999. Survey of genetic testing in childhood. Journal of Medical Genetics 36(Supp 1), pp. S73-S73.
- King, D., Shakespeare, T., Nicholson, R., Clarke, A. J. and McLean, S. 1999. Risks inherent in fetal gene therapy [Letter]. Nature 397(6718), pp. 383-383. (10.1038/16998)
- Tanner, S. M., Schneider, V., Thomas, N. S. T., Clarke, A. J., Lazarou, L. and Liechti-Gallati, S. 1999. Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. Neuromuscular Disorders 9(1), pp. 41-49. (10.1016/S0960-8966(98)00090-X)
1998
- Clarke, A. J. ed. 1998. The genetic testing of children. Oxfordshire, United Kingdom: Bios Scientific Publishers Ltd.
- Smith, M. J., Creasy, M. R., Clarke, A. J. and Upadhyaya, M. 1998. Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotype. Clinical Genetics 53(4), pp. 258-261. (10.1111/j.1399-0004.1998.tb02692.x)
- Webb, T., Clarke, A. J., Hanefeld, F., Pereira, J. L., Rosenbloom, L. and Woods, C. G. 1998. Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28. Journal of Medical Genetics 35(12), pp. 997-1003. (10.1136/jmg.35.12.997)
- Xiang, F. et al. 1998. Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq. Journal of Medical Genetics 35(4), pp. 297-300. (10.1136/jmg.35.4.297)
- Ferguson, B. M., Thomas, N. S. T., Munoz, F., Morgan, D., Clarke, A. J. and Zonana, J. 1998. Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. Journal of Medical Genetics 35(2), pp. 112-115. (10.1136/jmg.35.2.112)
1997
- Harper, P. S. and Clarke, A. J. 1997. Genetics, society and clinical practice. Garland Science.
- Thomas, N. S. T. et al. 1997. Molecular genetic studies in familial Rett syndrome. European Child & Adolescent Psychiatry 6(Supp 1), pp. 94-94.
- Clarke, A. J. 1997. Parents' responses to predictive genetic testing in their children. Journal of Medical Genetics 34(2), pp. 174-175. (10.1136/jmg.34.2.174)
- Parsons, E. P. and Clarke, A. J. eds. 1997. Culture, kinship and genes: Towards cross-cultural genetics. London: Palgrave Macmillan UK.
1996
- Kere, J. et al. 1996. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genetics 13(4), pp. 409-416. (10.1038/ng0895-409)
- Parsons, E. P., Bradley, D. M. and Clarke, A. J. 1996. Disclosure of Duchenne muscular dystrophy after newborn screening. Archives of Disease in Childhood 74(6), pp. 550-553. (10.1136/adc.74.6.550)
- Clarke, A. J. 1996. Rett syndrome. Journal of Medical Genetics 33(8), pp. 693-699. (10.1136/jmg.33.8.693)
1995
- Clarke, A. J., Harper, P. S., Unsworth, P. F., Scotson, J. and Doherty, P. 1995. Eugenics in China. The Lancet 346(8973), pp. 508-509. (10.1016/S0140-6736(95)91358-0)
- Harper, P. S. and Clarke, A. J. 1995. An ethical debate: testing may be unhelpful. British Medical Journal (BMJ) 310(6983), pp. 857-857. (10.1136/bmj.310.6983.857)
- Clarke, A. J. 1995. Commentary: cost effectiveness of antenatal screening for cystic fibrosis. BMJ 311(7018), pp. 1463-1463. (10.1136/bmj.311.7018.1463)
- Buss, P. W., Hughes, H. E. and Clarke, A. J. 1995. Twenty-four cases of the EEC syndrome: clinical presentation and management. Journal of Medical Genetics 32(9), pp. 716-723. (10.1136/jmg.32.9.716)
- Wallgren-Pettersson, C. et al. 1995. The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. Journal of Medical Genetics 32(9), pp. 673-679. (10.1136/jmg.32.9.673)
- Tyler, A., Ball, D. and Clarke, A. J. 1995. Genetic testing in the classroom [Letter]. British Medical Journal (BMJ) 311(7000), pp. 330-330. (10.1136/bmj.311.7000.330a)
- Clarke, A. J. 1995. Population screening for genetic susceptibility to disease. British Medical Journal (BMJ) 311(6996), pp. 35-37. (10.1136/bmj.311.6996.35)
- Hawksworth, N. R., Headland, S., Good, P., Thomas, N. S. T. and Clarke, A. J. 1995. Aland island eye disease: clinical and electrophysiological studies of a Welsh family. British Journal of Ophthalmology 79(5), pp. 424-430. (10.1136/bjo.79.5.424)
- Wallgren-Pettersson, C. et al. 1995. Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. Neuromuscular Disorders 5(2), pp. 93-104. (10.1016/0960-8966(94)00035-8)
- Clarke, A. J. 1995. The genetic testing of children [Letter]. Journal of Medical Genetics 32(6), pp. 492-492. (10.1136/jmg.32.6.492)
1994
- Fenton-May, J., Bradley, D. M., Sibert, J. R., Smith, R., Parsons, E. P., Harper, P. S. and Clarke, A. J. 1994. Screening for Duchenne muscular dystrophy. Archives of Disease in Childhood 70(6), pp. 551-552. (10.1136/adc.70.6.551)
- Clarke, A. J. 1994. Genetic counselling: practice and principles. Professional Ethics. Routledge.
- Zonana, J., Jones, M., Clarke, A. J., Gault, J., Muller, B. and Thomas, N. S. T. 1994. Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics 31(4), pp. 287-292. (10.1136/jmg.31.4.287)
1993
- Thomas, N. S. T. et al. 1993. X-linked hypohidrotic ectodermal dysplasia(EDA) - analysis of cytogenetic rearrangements in 4 patients and development of a detailed physical map within XQ12-Q13.1. American Journal of Human Genetics 53(3), pp. 1282-1282.
- Zonana, J., Jones, M., Clarke, A. J. and Thomas, N. S. T. 1993. Identification of both de-novo molecular deletions and an apparent excess of male germ-line mutations in X-Linked hypohidrotic ectodermal dysplasia(EDA) - implications for genetic-counseling. American Journal of Human Genetics 53(3), pp. 1263-1263.
- Clarke, A. J. 1993. Response to: what counts as success in genetic counseling. Journal of Medical Genetics 19(1), pp. 47-49.
- Curtis, A. R. J. et al. 1993. X chromosome linkage studies in familial Rett syndrome. Human Genetics 90(5), pp. 551-555. (10.1007/BF00217457)
- Zonana, J. et al. 1993. Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment. American Journal of Human Genetics 52(1), pp. 78-84.
- Wallgren-Pettersson, C., Jasani, B., Rosser, L. G., Lazarou, L. P., Nicholson, L. V. B. and Clarke, A. J. 1993. Immunohistological evidence for second or somatic mutations as the underlying cause of dystrophin expression by isolated fibres in Xp21 muscular dystrophy of Duchenne-type severity. Journal of the Neurological Sciences 118(1), pp. 56-63. (10.1016/0022-510X(93)90246-U)
- Parsons, E. P. and Clarke, A. J. 1993. Genetic risk: women's understanding of carrier risks in Duchenne muscular dystrophy. Journal of Medical Genetics 30(7), pp. 562-566. (10.1136/jmg.30.7.562)
- Upadhyaya, M. et al. 1993. Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12. Human Genetics 91(4), pp. 392-394. (10.1007/BF00217365)
- Bradley, D. M., Parsons, E. P. and Clarke, A. J. 1993. Experience with screening newborns for Duchenne muscular dystrophy in Wales. British Medical Journal (BMJ) 306(6874), pp. 357-360. (10.1136/bmj.306.6874.357)
- Clarke, A. J. and Parsons, E. P. 1993. Screening, ethics, and the law [Letter]. British Medical Journal (BMJ) 306(6871), pp. 209.2-209.2. (10.1136/bmj.306.6871.209-a)
- Harper, P. S. and Clarke, A. J. 1993. Screening for hypertrophic cardiomyopathy. British Medical Journal (BMJ) 306(6881), pp. 859-860. (10.1136/bmj.306.6881.859-c)
1992
- Clarke, A. J. 1992. Fetal medicine and ultrasonography: a genetic perspective. Clinical Radiology 46(1), pp. 4-6. (10.1016/S0009-9260(05)80024-8)
- Clarke, A. J., Wallgren-Pettersson, C. and Hughes, H. E. 1992. Children with genetic diseases: who should pay?. The Lancet 339(8809), pp. 1614-1615. (10.1016/0140-6736(92)91883-A)
- Clarke, A. J. and Harper, P. S. 1992. Genetic testing for hypertrophic cardiomyopathy. New England Journal of Medicine 327(16), pp. 1175-1176. (10.1056/NEJM199210153271616)
- Clarke, A. J. 1992. Report of ENMC workshop on the limb-girdle muscular dystrophies. Journal of Medical Genetics 29(10), pp. 753-755. (10.1136/jmg.29.10.753)
- Clarke, A. J., Bradley, D. M., Gillespie, K., Rees, D. A., Holland, A. and Thomas, N. S. T. 1992. Fragile X mental retardation and the iduronate sulphatase locus: testing laird's model of fra(X) inheritance. American Journal of Medical Genetics 43(1-2), pp. 299-306. (10.1002/ajmg.1320430146)
1991
- Zonana, J. et al. 1991. Fine mapping of the X-linked hypohidrotic ectodermal dysplasia locus (EDA). American Journal of Human Genetics 49(4), pp. 209-209.
- Thomas, N. S. T., Davies, K. P., Zonana, J., Clarke, A. J., Rastan, S. and Brockdorff, N. 1991. Molecular deletion analysis in X-linked hypohidrotic ectodermal dysplasia. American Journal of Human Genetics 49(4), pp. 205-205.
- Clarke, A. J., Cole, J. and Harper, P. S. 1991. Testing of children for genetic-disorders. American Journal of Human Genetics 49(4), pp. 179-179.
- Clarke, A. J. 1991. Is non-directive genetic counselling possible?. The Lancet 338(8773), pp. 998-1001. (10.1016/0140-6736(91)91849-P)
- Clarke, A. J. and Burn, J. 1991. Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics 28(5), pp. 330-333. (10.1136/jmg.28.5.330)
- Crawford, P. J., Aldred, M. J. and Clarke, A. J. 1991. Clinical and radiographic dental findings in X linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics 28(3), pp. 181-185. (10.1136/jmg.28.3.181)
- Clarke, A. J. 1991. Non-directive genetic counselling [Letter]. The Lancet 338(8781), pp. 1524-1524. (10.1016/0140-6736(91)92340-8)
- Zonana, J. et al. 1991. Fine mapping of the X-linked hypohidrotic ectodermal dysplasia locus(EDA). Cytogenetics and Cell Genetics 58(3-4), pp. 2091-2092.
1990
- Harper, P. S. and Clarke, A. J. 1990. Should we test children for "adult" genetic diseases?. The Lancet 335(8699), pp. 1205-1206. (10.1016/0140-6736(90)92713-R)
- Clarke, A. J. 1990. Conference report: symposium on genomic imprinting, Manchester. Journal of Medical Genetics 27(9), pp. 595-596. (10.1136/jmg.27.9.595)
- Clarke, A. J. 1990. Genetics, ethics, and audit. The Lancet 336(8707), pp. 120-120. (10.1016/0140-6736(90)91637-P)
- Clarke, A. J. 1990. Mitochondrial genome: defects, disease, and evolution. Journal of Medical Genetics 27(7), pp. 451-456. (10.1136/jmg.27.7.451)
- Goodship, J., Malcolm, S., Clarke, A. J. and Pembrey, M. E. 1990. Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics 27(7), pp. 422-425. (10.1136/jmg.27.7.422)
- Thomas, N. S. T. et al. 1990. X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. Journal of Medical Genetics 27(5), pp. 284-287. (10.1136/jmg.27.5.284)
- Clarke, A. J. et al. 1990. Abnormalities of carbohydrate metabolism and of oct gene function in the Rett syndrome. Brain and Development 12(1), pp. 119-124. (10.1016/S0387-7604(12)80191-4)
1989
- Zonana, J., Sarfarazi, M., Thomas, N. S. T., Clarke, A. J., Marymee, K. and Harper, P. S. 1989. Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis. The Journal of Pediatrics 114(3), pp. 392-399. (10.1016/S0022-3476(89)80556-6)
- Crawford, P. J. M., Aldred, M. J., Clarke, A. J. and Tso, M. S. Y. 1989. Rapp-Hodgkin syndrome: an ectodermal dysplasia involving the teeth, hair, nails, and palate: report of a case and review of the literature. Oral Surgery, Oral Medicine, Oral Pathology 67(1), pp. 50-62. (10.1016/0030-4220(89)90302-2)
1988
- Zonana, J., Clarke, A. J., Thomas, N. S. T., Sarfarazi, M., Roberts, K., Marymee, K. and Harper, P. S. 1988. Linkage analysis of x-linked hypohidrotic ectodermal dysplasia: implications for carrier detection and prenatal diagnosis. Journal of Medical Genetics 25(4), pp. 274-274. (10.1136/jmg.25.4.274)
- Zonana, J., Clarke, A. J., Sarfarazi, M., Thomas, N. S. T., Roberts, K., Marymee, K. and Harper, P. S. 1988. X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. American Journal of Human Genetics 43(1), pp. 75-85.
1987
- Clarke, A. J., Phillips, D. I., Brown, R. and Harper, P. S. 1987. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Archives of Disease in Childhood 62(10), pp. 989-996. (10.1136/adc.62.10.989)
- Sibert, J. R. and Clarke, A. J. 1987. Improvements in child resistant containers. Archives of Disease in Childhood 62(4), pp. 432-433. (10.1136/adc.62.4.432-b)
- Clarke, A. J., Sarfarazi, M., Thomas, N. S. T., Roberts, K. and Harper, P. S. 1987. X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization. Human Genetics 75(4), pp. 378-380. (10.1007/BF00284112)
- Clarke, A. J. 1987. Regional localization of X-linked hypohidrotic ectodermal dysplasia(EDA). Cytogenetics and Cell Genetics 46(1-4), pp. 594-594.
1986
- Clarke, A. J., Sarfarazi, M. and Thomas, N. S. T. 1986. Hypohidrotic ectodermal dysplasia - localization to the proximal long arm of the x-chromosome. Journal of Medical Genetics 23(5), pp. 473-473.
- Clarke, A. J., Roberts, S. H., Thomas, N. S. and Williams, J. 1986. Duchenne muscular-dystrophy, adrenal hypoplasia, glycerol kinase-deficiency, and mental-retardation associated with XP21 intersitial deletion. Journal of Medical Genetics 23(5), pp. 473-473. (10.1136/jmg.23.5.468)
- Clarke, A. J. and Sibert, J. R. 1986. Why child cyclists should wear helmets. Practitioner 230(1416), pp. 513-514.
- Clarke, A. J., Roberts, S. H., Thomas, N. S. T., Whitfield, A., Williams, J. and Harper, P. S. 1986. Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies. Journal of Medical Genetics 23(6), pp. 501-508. (10.1136/jmg.23.6.501)
1985
- Clarke, A. J. and Sibert, J. R. 1985. Hypernatraemic dehydration and necrotizing enterocolitis. Postgraduate Medical Journal 61(711), pp. 65-66. (10.1136/pgmj.61.711.65)
Articles
- Horn, R. et al. 2024. Ethical and social implications of public-private partnerships in the context of genomic/big health data collection. Journal of Genetic Counseling 32, pp. 736-741. (10.1038/s41431-024-01608-9)
- Ellard, H., Clarke, A., Wynn, S., Pichini, A. and Lewis, C. 2024. Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation. European Journal of Human Genetics (10.1038/s41431-024-01636-5)
- Ballard, L. M., Doheny, S., Dimond, R., Lucassen, A. M. and Clarke, A. J. 2024. Predictive genetic testing for Huntington's disease: Exploring participant experiences of uncertainty and ambivalence between clinic appointments. Journal of Genetic Counseling (10.1002/jgc4.1911)
- Chaouch, A. et al. 2024. Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions. European Journal of Human Genetics 32(3), pp. 260-262. (10.1038/s41431-023-01520-8)
- Hedgecoe, A., Job, K. and Clarke, A. 2024. Taking after a parent: phenotypic resemblance and the professional familialisation of genomics. Sociology of Health & Illness 46(2), pp. 257-275. (10.1111/1467-9566.13699)
- Johnson, K. et al. 2024. A holistic approach to fragile X syndrome integrated guidance for person‐centred care. Journal of Applied Research in Intellectual Disabilities 37(3), article number: e13214. (10.1111/jar.13214)
- Jain, V. et al. 2023. Börjeson–Forssman–Lehmann syndrome: Delineating the clinical and allelic spectrum in 14 new families. European Journal of Human Genetics 31, pp. 1421-1429. (10.1038/s41431-023-01447-0)
- Perrot, A., Clarke, A., Vassy, C. and Horn, R. 2023. Women's preferences for NIPT as a first‐line test in England and France: challenges for genetic counseling practices. Journal of Genetic Counseling (10.1002/jgc4.1839)
- Clarke, A. 2023. Commentary on Eichinger J, Zimmermann B, Elger B, McLennan S, Filges I, Koné I. 2023. 'It's a nightmare': informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland.. Nature (10.1038/s41431-023-01490-x)
- Hedgecoe, A., Job, K. and Clarke, A. 2023. Reflexive standardization and the resolution of uncertainty in the genomics clinic. Social Studies of Science 53(3), pp. 358-378. (10.1177/03063127231154863)
- Vockley, J. et al. 2023. Response to Beretich and Beretich. Genetics in Medicine (10.1016/j.gim.2023.100903)
- Clarke, A. 2023. Terminology and consistency. The American Journal of Bioethics 23(3), pp. 53-55. (10.1080/15265161.2023.2169401)
- Cornel, M. C. and Clarke, A. 2023. New year, new goals for the journal?. Journal of Community Genetics 14(1), pp. 1-3. (10.1007/s12687-023-00637-z)
- Schneider, H. et al. 2023. Protocol for the phase 2 EDELIFE trial investigating the efficacy and safety of intra-amniotic ER004 administration to male subjects with x-linked hypohidrotic ectodermal dysplasia. Genes 14(1), article number: 153. (10.3390/genes14010153)
- Friedrich, B., Vindrola-Padros, C., Lucassen, A., Patch, C., Clarke, A., Lakhanpaul, M. and Lewis, C. 2023. "A very big challenge": A qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England. Frontiers in Genetics 14, article number: 1282034. (10.3389/fgene.2023.1282034)
- Forzano, F. et al. 2022. Correction to: Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'. European Journal of Human Genetics (10.1038/s41431-022-01263-y)
- Peschel, N. et al. 2022. Molecular pathway-based classification of ectodermal dysplasias: first five-yearly update. Genes 13(12), article number: 2327. (10.3390/genes13122327)
- Forzano, F. et al. 2022. Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’. European Journal of Human Genetics 31(3), pp. 279-281. (10.1038/s41431-022-01241-4)
- Levy, M. A. et al. 2022. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Human Mutation: Variation, Informatics and Disease 43(11), pp. 1609-1628. (10.1002/humu.24446)
- Coorey, B., Haase, F., Ellaway, C., Clarke, A., Lisowski, L. and Gold, W. A. 2022. Gene editing and Rett syndrome: does it make the cut?. The CRISPR Journal 5(4), pp. 490-499. (10.1089/crispr.2022.0020)
- Amin, S. et al. 2022. International consensus recommendations for the assessment and management of individuals with CDKL5 deficiency disorder. Frontiers in Neurology 13, article number: 874695. (10.3389/fneur.2022.874695)
- Forzano, F. et al. 2022. The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice. European Journal of Human Genetics 30, pp. 493-495. (10.1038/s41431-021-01000-x)
- Clarke, A. J. and van El, C. G. 2022. Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine. Human Genetics 141, pp. 1099-1107. (10.1007/s00439-022-02453-w)
- Vockley, J. et al. 2022. The evolving role of medical geneticists in the era of gene therapy: an urgency to prepare. Genetics in Medicine 25(4), article number: 100022. (10.1016/j.gim.2023.100022)
- McNeill, A. et al. 2022. Predictive genetic testing for Motor neuron disease: time for a guideline?. European Journal of Human Genetics 30(6), pp. 635-636. (10.1038/s41431-022-01093-y)
- Arribas-Ayllon, M., Shelton, K. and Clarke, A. 2022. Can genomics remove uncertainty from adoption? Social workers' and medical advisors' accounts of genetic testing. British Journal of Social Work 52(2), pp. 719-737., article number: bcab017. (10.1093/bjsw/bcab017)
- Dimond, R., Doheny, S. and Clarke, A. 2022. Genetic testing and family entanglements. Social Science & Medicine 298, article number: 114857. (10.1016/j.socscimed.2022.114857)
- Lewis, C. et al. 2022. Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol [version 2; peer review: 3 approved, 1 approved with reservations]. NIHR Open Research 1, article number: 23. (10.3310/nihropenres.13236.2)
- Levy, M. A. et al. 2022. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. Human Genetics and Genomics Advances 3(1), article number: 100075. (10.1016/j.xhgg.2021.100075)
- Ting, M. S. O., Clarke, A. and McAllister, M. 2021. Assessing sensitivity to change of the genomics outcome scale (GOS). Journal of Genetic Counseling 30(6), pp. 1767-1772. (10.1002/jgc4.1429)
- Schmitz, D. and Clarke, A. 2021. Ethics experts and fetal patients: a proposal for modesty. BMC Medical Ethics 22(1), article number: 161. (10.1186/s12910-021-00730-3)
- Mendes, ?., Sequeiros, J. and Clarke, A. J. 2021. Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late-onset neurological diseases. Journal of Genetic Counseling 30(5), pp. 1480-1490. (10.1002/jgc4.1415)
- Gaille, M., Horn, R. and Clarke, A. 2021. The ethics of genomic medicine: redefining values and norms in the UK and France. European Journal of Human Genetics 29(5), pp. 780–788. (10.1038/s41431-020-00798-2)
- Klöckner, C. et al. 2021. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genetics in Medicine 23, pp. 653-660. (10.1038/s41436-020-01020-w)
- de Wert, G. et al. 2021. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. European Journal of Human Genetics 29, pp. 365-377. (10.1038/s41431-020-00758-w)
- Waite, A. J., Millar, D. and Clarke, A. 2020. The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene. Stem Cell Research 49, article number: 102018. (10.1016/j.scr.2020.102018)
- McClatchey, M. A. et al. 2020. Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation. European Journal of Medical Genetics 63(9), article number: 103972. (10.1016/j.ejmg.2020.103972)
- Rizzo, R., Van Den Bree, M., Challenger, A., Cuthbert, A., Arribas-Ayllon, M., Clarke, A. and Thompson, R. 2020. Co-creating a knowledge base in the “22q11.2 deletion syndrome” community. Journal of Community Genetics 11(1), pp. 101-111. (10.1007/s12687-019-00425-8)
- Arribas-Ayllon, M., Clarke, A. and Shelton, K. 2020. Professionals’ accounts of genetic testing in adoption: a qualitative study. Archives of Disease in Childhood 105(1), pp. 74-79. (10.1136/archdischild-2019-316911)
- Fellmann, F. et al. 2019. European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. European Journal of Human Genetics 27, pp. 1763-1773. (10.1038/s41431-019-0445-y)
- Hammersen, J. et al. 2019. Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography. Prenatal Diagnosis 39(9), pp. 796-805. (10.1002/pd.5384)
- Wadrup, F. et al. 2019. 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 27, pp. 1215-1224. (10.1038/s41431-019-0375-8)
- Piña-Aguilar, R. E. et al. 2019. 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. Genetics in Medicine 21, pp. 1639-1643. (10.1038/s41436-018-0367-z)
- Grant, P. E., Pampaka, M., Payne, K., Clarke, A. and McAllister, M. 2019. Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale. European Journal of Medical Genetics 62(5), pp. 324-334. (10.1016/j.ejmg.2018.11.015)
- Gorman, K. M. et al. 2019. Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia. American Journal of Human Genetics 104(5), pp. 948-956. (10.1016/j.ajhg.2019.03.005)
- Frullanti, E. et al. 2019. Analysis of the phenotypes in the Rett Networked Database. International Journal of Genomics 2019, article number: 6956934. (10.1155/2019/6956934)
- Goldenberg, A. J. et al. 2019. Including ELSI research questions in newborn screening pilot studies. Genetics in Medicine 21, pp. 525-533. (10.1038/s41436-018-0101-x)
- Mendes, ?., Paneque, M., Clarke, A. and Sequeiros, J. 2019. Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease. European Journal of Human Genetics 27, pp. 353-359. (10.1038/s41431-018-0308-y)
- Wright, J. T. et al. 2019. Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. American Journal of Medical Genetics Part A 179(3), pp. 442-447. (10.1002/ajmg.a.61045)
- Clarke, A. J. and Wallgren-Pettersson, C. 2019. Ethics in genetic counselling. Journal of Community Genetics 10, pp. 3-33. (10.1007/s12687-018-0371-7)
- Abdulbari, B., Al-Mulla, M. and Clarke, A. 2019. Premarital screening and genetic counseling program: studies from an endogamous population. International Journal of Applied and Basic Medical Research 9(1), pp. 20-26. (10.4103/ijabmr.IJABMR_42_18)
- Faschingbauer, F. et al. 2018. Accuracy of prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography. European Journal of Ultrasound / Ultraschall in der Medizin 39(S01), article number: S25. (10.1055/s-0038-1670428)
- Carrieri, D. et al. 2018. Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. European Journal of Human Genetics 27, pp. 169-182. (10.1038/s41431-018-0285-1)
- Mendes, ?., Metcalfe, A., Paneque, M., Sousa, L., Clarke, A. J. and Sequeiros, J. 2018. Communication of information about genetic risks: putting families at the center. Family Process 57(3), pp. 836-846. (10.1111/famp.12306)
- Clarke, A. J. and Abdala Sheikh, A. P. 2018. A perspective on "cure" for Rett syndrome. Orphanet Journal of Rare Diseases 13(1), article number: 44. (10.1186/s13023-018-0786-6)
- de Wert, G. et al. 2018. Human germline gene editing: Recommendations of ESHG and ESHRE. European Journal of Human Genetics 26, pp. 445-449. (10.1038/s41431-017-0076-0)
- De Wert, G. et al. 2018. Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE. European Journal of Human Genetics 26, pp. 450-470. (10.1038/s41431-017-0077-z)
- Quarrell, O. W. et al. 2018. Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177(1), pp. 35-39. (10.1002/ajmg.b.32582)
- Doheny, S. et al. 2018. Dimensions of responsibility in medical genetics: exploring the complexity of the “duty to recontact”. New Genetics and Society 37(3), pp. 187-206. (10.1080/14636778.2018.1510309)
- Hector, R. D. et al. 2017. CDKL5 variants Improving our understanding of a rare neurologic disorder. Neurology Genetics 3(6), article number: e200. (10.1212/NXG.0000000000000200)
- Ross, L. F. and Clarke, A. J. 2017. A historical and current review of newborn screening for neuromuscular disorders from around the world: lessons for the United States. Pediatric Neurology 77, pp. 12-22. (10.1016/j.pediatrneurol.2017.08.012)
- Carrieri, D., Dheensa, S., Doheny, S., Clarke, A., Turnpenny, P. D., Lucassen, A. M. and Kelly, S. E. 2017. Recontacting in clinical practice: the views and expectations of patients in the United Kingdom. European Journal of Human Genetics 25(10), pp. 1106-1112. (10.1038/ejhg.2017.122)
- Dheensa, S., Carrieri, D., Kelly, S., Clarke, A., Doheny, S., Turnpenny, P. and Lucassen, A. 2017. A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation. European Journal of Medical Genetics 60(7), pp. 403-409. (10.1016/j.ejmg.2017.05.001)
- Mendes, ?., Sousa, L., Sequeiros, J. and Clarke, A. 2017. Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal. Social Science & Medicine 182, pp. 73-80. (10.1016/j.socscimed.2017.04.026)
- Low, K. J. et al. 2017. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. European Journal of Human Genetics 25(5), pp. 552-559. (10.1038/ejhg.2017.27)
- Molster, C. M. et al. 2017. Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments. Frontiers in Public Health 5, article number: 25. (10.3389/fpubh.2017.00025)
- McRae, J. F. et al. 2017. Prevalence and architecture of de novo mutations in developmental disorders. Nature 542, pp. 433-438. (10.1038/nature21062)
- Cianfaglione, R., Hastings, R., Felce, D., Clarke, A. J. and Kerr, M. 2017. Change over a 16-month period in the psychological well-being of mothers of girls and women with Rett syndrome. Developmental Neurorehabilitation 20(5), pp. 261-265. (10.3109/17518423.2016.1142483)
- Hryniemiecka-Jaworska, A., Foden, E., Kerr, M. P., Felce, D. J. and Clarke, A. J. 2016. Prevalence and associated features of depression in women with Rett Syndrome. Journal of Intellectual Disability Research 60(6), pp. 564-570. (10.1111/jir.12270)
- Clarke, A. J. 2016. Anticipated stigma and blameless guilt: mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). Social Science & Medicine 158, pp. 141-148. (10.1016/j.socscimed.2016.04.027)
- Baig, S. S. et al. 2016. 22 years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium. European Journal of Human Genetics 24, pp. 1396-1402. (10.1038/ejhg.2016.36)
- Tooley, M. et al. 2016. Cerebro-Costo-Mandibular syndrome: Clinical, radiological and genetic findings. American Journal of Medical Genetics Part A 170(5), pp. 1115-1126. (10.1002/ajmg.a.37587)
- Burke, K. and Clarke, A. 2016. The challenge of consent in clinical genome-wide testing. Archives of Disease in Childhood 101, pp. 1048-1052. (10.1136/archdischild-2013-304109)
- Fry, A. E. et al. 2016. Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. BMC Medical Genetics 17, pp. -., article number: 34. (10.1186/s12881-016-0294-2)
- Cianfaglione, R., Meek, A., Clarke, A. J., Kerr, M. P., Hastings, R. P. and Felce, D. J. 2016. Direct observation of the behaviour of females with Rett Syndrome. Journal of Developmental and Physical Disabilities 28(3), pp. 425-441. (10.1007/s10882-016-9478-0)
- Mendes, ?., Paneque, M., Sousa, L., Clarke, A. J. and Sequeiros, J. 2016. How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence. European Journal of Human Genetics 24(3), pp. 315-325. (10.1038/ejhg.2015.174)
- Cianfaglione, R., Clarke, A. J., Kerr, M. P., Hastings, R., Oliver, C. and Felce, D. J. 2016. Ageing in Rett syndrome. Journal of Intellectual Disability Research 60(2), pp. 182-190. (10.1111/jir.12228)
- Taylor-Phillips, S. et al. 2016. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open 6(1), article number: e010002. (10.1136/bmjopen-2015-010002)
- Cianfaglione, R., Hastings, R. P., Felce, D. J., Clarke, A. J. and Kerr, M. P. 2015. Psychological well-being of mothers and siblings in families of girls and women with Rett Syndrome. Journal of Autism and Developmental Disorders 45(9), pp. 2939-2946. (10.1007/s10803-015-2457-y)
- Jorge, S., Sahra, G. and Clarke, A. J. 2015. Genetics and ethics in Latin America. Journal of Community Genetics 6(3), pp. 185-187. (10.1007/s12687-015-0241-5)
- Rodas-Perez, C., Clarke, A. J., Powell, J. and Thorogood, M. 2015. Challenges for providing genetic counselling in Colombian genetic clinics: the viewpoint of the physicians providing genetic consultations. Journal of Community Genetics 6(3), pp. 301-311. (10.1007/s12687-015-0237-1)
- Cianfaglione, R., Clarke, A. J., Kerr, M. P., Hastings, R. P., Oliver, C. and Felce, D. J. 2015. A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health. American Journal of Medical Genetics Part A 167(7), pp. 1493-1500. (10.1002/ajmg.a.37027)
- Nissenkorn, A. et al. 2015. Epilepsy in Rett syndrome-Lessons from the Rett networked database. Epilepsia 56(4), pp. 569-576. (10.1111/epi.12941)
- Cianfaglione, R. et al. 2015. A national survey of Rett syndrome: behavioural characteristics. Journal of Neurodevelopmental Disorders 7, article number: 11. (10.1186/s11689-015-9104-y)
- Deans, Z., Newson, A. and Clarke, A. J. 2015. For your interest? The ethical acceptability of using non-invasive prenatal testing to test 'purely for information'. Bioethics 29(1), pp. 19-25. (10.1111/bioe.12125)
- Salinas, C. et al. 2014. Second international conference on a classification of ectodermal dysplasias: Development of a multiaxis model. American Journal of Medical Genetics Part A 164(10), pp. 2482-2489. (10.1002/ajmg.a.36507)
- Clarke, A. 2014. Managing the ethical challenges of next-generation sequencing in genomic medicine. British Medical Bulletin 111(1), pp. 17-30. (10.1093/bmb/ldu017)
- Shipman, H. E., Sarangi, S. and Clarke, A. 2014. Accounts of consent: orienting to self-other relations regarding motivations to participate in cancer bio-banking. Communication & Medicine 11(1), pp. 69-84. (10.1558/cam.v11i1.17324)
- Williamson, K. A. et al. 2014. Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. American Journal of Human Genetics 94(2), pp. 295-302. (10.1016/j.ajhg.2014.01.001)
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- Clarke, A. J. et al. 1990. Abnormalities of carbohydrate metabolism and of oct gene function in the Rett syndrome. Brain and Development 12(1), pp. 119-124. (10.1016/S0387-7604(12)80191-4)
- Zonana, J., Sarfarazi, M., Thomas, N. S. T., Clarke, A. J., Marymee, K. and Harper, P. S. 1989. Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis. The Journal of Pediatrics 114(3), pp. 392-399. (10.1016/S0022-3476(89)80556-6)
- Crawford, P. J. M., Aldred, M. J., Clarke, A. J. and Tso, M. S. Y. 1989. Rapp-Hodgkin syndrome: an ectodermal dysplasia involving the teeth, hair, nails, and palate: report of a case and review of the literature. Oral Surgery, Oral Medicine, Oral Pathology 67(1), pp. 50-62. (10.1016/0030-4220(89)90302-2)
- Zonana, J., Clarke, A. J., Thomas, N. S. T., Sarfarazi, M., Roberts, K., Marymee, K. and Harper, P. S. 1988. Linkage analysis of x-linked hypohidrotic ectodermal dysplasia: implications for carrier detection and prenatal diagnosis. Journal of Medical Genetics 25(4), pp. 274-274. (10.1136/jmg.25.4.274)
- Zonana, J., Clarke, A. J., Sarfarazi, M., Thomas, N. S. T., Roberts, K., Marymee, K. and Harper, P. S. 1988. X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. American Journal of Human Genetics 43(1), pp. 75-85.
- Clarke, A. J., Phillips, D. I., Brown, R. and Harper, P. S. 1987. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Archives of Disease in Childhood 62(10), pp. 989-996. (10.1136/adc.62.10.989)
- Sibert, J. R. and Clarke, A. J. 1987. Improvements in child resistant containers. Archives of Disease in Childhood 62(4), pp. 432-433. (10.1136/adc.62.4.432-b)
- Clarke, A. J., Sarfarazi, M., Thomas, N. S. T., Roberts, K. and Harper, P. S. 1987. X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization. Human Genetics 75(4), pp. 378-380. (10.1007/BF00284112)
- Clarke, A. J. 1987. Regional localization of X-linked hypohidrotic ectodermal dysplasia(EDA). Cytogenetics and Cell Genetics 46(1-4), pp. 594-594.
- Clarke, A. J., Sarfarazi, M. and Thomas, N. S. T. 1986. Hypohidrotic ectodermal dysplasia - localization to the proximal long arm of the x-chromosome. Journal of Medical Genetics 23(5), pp. 473-473.
- Clarke, A. J., Roberts, S. H., Thomas, N. S. and Williams, J. 1986. Duchenne muscular-dystrophy, adrenal hypoplasia, glycerol kinase-deficiency, and mental-retardation associated with XP21 intersitial deletion. Journal of Medical Genetics 23(5), pp. 473-473. (10.1136/jmg.23.5.468)
- Clarke, A. J. and Sibert, J. R. 1986. Why child cyclists should wear helmets. Practitioner 230(1416), pp. 513-514.
- Clarke, A. J., Roberts, S. H., Thomas, N. S. T., Whitfield, A., Williams, J. and Harper, P. S. 1986. Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies. Journal of Medical Genetics 23(6), pp. 501-508. (10.1136/jmg.23.6.501)
- Clarke, A. J. and Sibert, J. R. 1985. Hypernatraemic dehydration and necrotizing enterocolitis. Postgraduate Medical Journal 61(711), pp. 65-66. (10.1136/pgmj.61.711.65)
Book sections
- Clarke, A. 2017. Genetic information in medicine: Its generation, significance, and use. In: Schramme, T. and Edwards, S. eds. Handbook of the Philosophy of Medicine. Dordrecht: Springer, pp. 303-323., (10.1007/978-94-017-8688-1_13)
- Clarke, A. J. 2016. Genetic information in medicine: Its generation, significance and use. In: Schramme, T. and Edwards, S. eds. Handbook of the Philosophy of Medicine.. Springer Science+Business Media (Dordrecht )
- Burke, K. and Clarke, A. 2015. Genetic screening. In: Henk, t. H. ed. Encyclopedia of Global Bioethics. Springer Reference
- Sarangi, S., Brookes-Howell, L., Bennert, K. and Clarke, A. J. 2011. Psychological and sociomoral frames in genetic counseling for predictive testing. In: Sarangi, S. K., Candlin, C. and Knapp, K. eds. Handbook of Communication in Organisations and Professions. Handbooks of Applied Linguistics Vol. 3. Berlin: De Gruyter Mouton, pp. 235-257.
- Clarke, A. J. 2011. Genetic counseling, testing and screening. In: Kuhse, H. and Singer, P. eds. A Companion to Bioethics (2nd revised ed.). Blackwell Companions to Philosophy Chichester: Blackwell, pp. 245-259., (10.1002/9781444307818.ch22)
- Clarke, A. J., Hendicott, B., MacSorley, P. and Frayling, I. M. 2010. ‘Mainstreaming’ and the impact on clinical taxonomy: a clinical perspective on the introduction of new genetic tests. In: Weiser, B. and Berger, W. eds. Assessing Life: on the Organisation of Genetic Testing. Science and technology studies Vol. 59. München: Profil Verlag, pp. 133-154.
- Clarke, A. J. 2008. Genetic testing and genomic screening. In: Kumar, D. and Weatherall, D. eds. Genomics and clinical medicine. Oxford monographs on medical genetics Oxford: Oxford University Press, pp. 595-612.
- Clarke, A. J. and Davies, D. M. 2007. Clinical genetics. In: Levene, M. I. ed. MRCPCH MasterCourse., Vol. 1. Edinburgh: Churchill Livingstone (Elsevier), pp. 86-100.
- Clarke, A. J. 2007. Ethical and social issues in clinical genetics. In: Rimoin, D. L. et al. eds. Emery and Rimoin's Principles and Practice of Medical Genetics (5th ed.). Edinburgh: Churchill Livingstone, pp. 799-824.
- Clarke, A. J. 2007. Genetic counselling. In: Ashcroft, E. et al. eds. Principles of Health Care Ethics (2nd ed.). Chichester: John Wiley, pp. 427-434.
- Clarke, A. J. and Murray, A. 2007. The ethics of population screening. In: Cartlidge, P. ed. Ethical, Legal and Social Aspects of Healthcare. Edinburgh: Elsevier, pp. 169-173.
- Bharadwaj, A., Prior, L., Atkinson, P., Clarke, A. J. and Worwood, M. 2006. The genetic iceberg: risk and uncertainty. In: Webster, A. ed. New Technologies in Health Care: Challenge, Change and Innovation. Health, Technology and Society Basingstoke: Palgrave MacMillan, pp. 11-24.
- Bharadwaj, A., Atkinson, P. and Clarke, A. J. 2006. Medical classification and the experience of genetic haemochromatosis. In: Atkinson, P., Glasner, P. and Greenslade, H. eds. New Genetics, New Identities. Genetics and Society Abingdon: Routledge, pp. 120-138.
- Clarke, A. J. 2004. On dissecting the genetic basis of behaviour and intelligence. In: Rees, D. and Rose, S. eds. The New Brain Sciences: Perils and Prospects. Cambridge: Cambridge University Press, pp. 181-194., (10.1017/CBO9780511541698.012)
- Clarke, A. J. 2002. Congenital (structural) myopathies. In: Rimoin, D. L. et al. eds. Emery & Rimoin's Principles and Practice of Medical Genetics (4th ed.). Edinburgh: Churchill Livingstone, pp. 3321-3348.
- Clarke, A. J. 2002. Ethical and social issues in clinical genetics. In: Rimoin, D. L. et al. eds. Emery & Rimoin's Principles and Practice of Medical Genetics (4th ed.). Edinburgh: Churchill Livingstone, pp. 897-928.
Books
- Arribas-Ayllon, M., Sarangi, S. K. and Clarke, A. J. 2011. Genetic testing: accounts of autonomy, responsibility and blame. Genetics and Society. London: Routledge.
- Clarke, A. J. and Ticehurst, F. L. eds. 2006. Living with the genome. Ethical and social aspects of human genetics. Palgrave Macmillan.
- Featherstone, K., Atkinson, P. A., Bharadwaj, A. and Clarke, A. J. 2006. Risky relations: family, kinship and the new genetics. Oxford: Berg.
- Clarke, A. J. ed. 1998. The genetic testing of children. Oxfordshire, United Kingdom: Bios Scientific Publishers Ltd.
- Harper, P. S. and Clarke, A. J. 1997. Genetics, society and clinical practice. Garland Science.
- Parsons, E. P. and Clarke, A. J. eds. 1997. Culture, kinship and genes: Towards cross-cultural genetics. London: Palgrave Macmillan UK.
- Clarke, A. J. 1994. Genetic counselling: practice and principles. Professional Ethics. Routledge.
Conferences
- Clarke, A. J., Sarangi, S. K., Bennert, K. and Howell, L. 2003. Categorisation practices across professional boundaries: some analytic insights from genetic counselling. Presented at: Annual Meeting of the British Association for Applied Linguistics, Cardiff, UK, September 2002 Presented at Sarangi, S. K. and Leeuwen, T. eds.Applied Linguistics and Communities of Practice: selected papers from the Annual Meeting of the British Association for Applied Linguistics, Cardiff University, September 2002. British Studies in Applied Linguistics London: Continuum pp. 150-168.
- Clarke, A. J. 2002. Genetic counselling, testing and screening: issues for health services, for health professionals and for our clients. Presented at: Between Technology and Humanity: The Impact of Technology on Health Care Ethics, Brussels, Belgium, 18-19 October 2002 Presented at Gastmans, C. ed.Between technology and humanity: the impact of technology on health care ethics. Leuven: Leuven University Press pp. 97-117.
Monographs
- Taylor-Phillips, S. et al. 2016. Systematic review and cost-consequence assessment of cell-free fetal DNA testing for T21, T18 and T13 in the UK ? Final report, UK National Screening Committee. Project Report. UK National Screening Committee.
- Arribas-Ayllon, M., Sarangi, S. K. and Clarke, A. J. 2008. Professional ambivalence: accounts of ethical practice in childhood genetic testing. Working paper. Cardiff: Cardiff University. Available at: http://www.caerdydd.ac.uk/socsi/resources/wp108.pdf
- Arribas-Ayllon, M., Sarangi, S. K. and Clarke, A. J. 2008. The politics of autonomy in genetic testing of children. Working paper. Cardiff: Cardiff University. Available at: http://www.caerdydd.ac.uk/socsi/resources/wp107.pdf
- Clarke, A. J. 2016. Anticipated stigma and blameless guilt: mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). Social Science & Medicine 158, pp. 141-148. (10.1016/j.socscimed.2016.04.027)
- Clarke, A. 2014. Managing the ethical challenges of next-generation sequencing in genomic medicine. British Medical Bulletin 111(1), pp. 17-30. (10.1093/bmb/ldu017)
- Sarangi, S. K., Clarke, A. J. and Verrier-Jones, K. 2011. Voicing the Lifeworld: Parental Accounts of Responsibility in Genetic Consultations for Polycystic Kidney Disease. Social Science & Medicine 72(11), pp. 1743-1751. (10.1016/j.socscimed.2010.06.040)
- Clarke, A. J. and Cooper, D. N. 2010. GWAS: heritability missing in action?. European Journal of Human Genetics 18(8), pp. 859-861. (10.1038/ejhg.2010.35)
- Arribas-Ayllon, M., Sarangi, S. K. and Clarke, A. J. 2009. Professional ambivalence: accounts of ethical practice in childhood genetic testing. Journal of Genetic Counselling 18(2), pp. 173-84. (10.1007/s10897-008-9201-0)
Research
My interests include (i) clinical genetic aspects of Rett syndrome (and related disorders) and of ectodermal dysplasia, and (ii) the broader social and ethical aspects of genetic disease, such as stigmatisation in relation to physical appearance.
My principal project now is an ESRC-funded project on how patients make decisions about genetic testing. This is looking especially at (a) predictive genetic testing for late-onset diseases (such as Huntington's disease) and (b) the investigation and management of pregnancies where an ultrasound scan of the foetus (unborn baby) has shown signs of a serious structural problem, such as a congenital heart defect. This project is a collaboration including Southampton, Exeter, Bristol and Swansea as well as Cardiff.
Our focus in this project is on what matters for people in their broader lives outside clinic - their 'life-world' - and not just what goes on within the clinics, in the 'world of medicine'. We are therefore asking patients to keep diaries about what is going on for them, as well as recording clinic consultations and discussions and interviewing patients at the end of the process.
I am arranging the distribution of iPS cell lines derived from patients with CDKL5- and FOXG1-related disorders, developed from two recent research projects into neurological disorders related to Rett syndrome.
We are also preparing for the introduction into the UK of an experiemntal trial of treatment in utero of male foetuses affected by X-linked hypohidrotic ectodermal dyplasia. This is being set up by 'Esperare' in collaboration with industrial partners and can be regarded as a follow-on to the recent trial of treatment of male neonates affected by the same condition (managed by Edimer Pharmaceuticals).
Teaching
My teaching commitment falls into four categories.
(i) MSc in Genetic Counselling, now the MSc in Genetic & Genomic Counselling
I established this course and was course director until it discontinued in 2018. I remain actively involved in the succesor course in Genetic & Genomic Counselling, whichis largely an online course directed by Prof Marion MacAllister.
(ii) BSc in Medical Genetics
I established this intercalated one-year BSc course for undergraduate medical students in 1990 and have remained actively involved ever since, both as lecturer and module leader.
(iii) Undergraduate Medical Course
I contribute to the MB BCh course across the first four years, both in teaching Medical Genetics and more general topics such as Professionalism, both in formal lectures and in small group tutorials. I offer Student Selected Components in Years 1, 3 and 4 of the course.
(iv) Doctoral Students
I usually supervise one or two research (PhD or MD) students working on bioethics or related topics, as principal or as co-supervisor.
Biography
Education & Qualifications
BA II-1 Genetics 1976 King's College, Cambridge
BM, BCh Oxford 1979
MRCP(UK) Royal College of Physicians of London 1982
DM Oxford 1989
FRCP (Lond) 1994, FRCPCH 1997
Current Position
I have been Professor in Clinical Genetics since 2000. I was previously Reader from 1996 and, before that, Senior Lecturer from 1989. This position is held in the Division of Cancer & Genetics, School of Medicine, Cardiff University. I am also Honorary Consultant Clinical Geneticist, in the All Wales Medical Genomics Service, based within the Cardiff & Vale University Health Board.
Career Overview
I first studied Genetics (BA, 1976) and then qualified in Clinical Medicine (BM, BCh 1979). After registration, I worked in General Medicine and then Paediatrics. I studied the clinical and molecular genetics of ectodermal dysplasia in Cardiff and then worked in clinical genetics and paediatric neurology in Newcastle upon Tyne, developing an interest in Rett syndrome and neuromuscular disorders. I returned to Cardiff in 1989 and am now Professor in Clinical Genetics at Cardiff University School of Medicine and Honorary Consultant to the All-Wales Medical Genomics Service.
I have continued my interest in Rett syndrome, with molecular and cell-based research in the CDKL5 and FOXG1 conditions that are closely related to Rett syndrome. I have also maintained an interest in ectodermal dysplasia and developed further interests in genetic screening, the genetic counselling process and the social and ethical issues around human genetics. I was engaged in a clinical trial of treatment for newborn males affected by sex-linked hypohidrotic ectodermal dysplasia (XHED) and am now preparing for a trial of treatment in utero.
My interest in social science and ethics has developed out of my clncal experiences, and especially from spending so much time with families affeced by ectodermal dysplasia. This has led me to focus on the 'lifeworld' factors that influence family communication about genetic conditions and also (in my current ESRC-funded project) the factors that affect patient decision making. I have worked with ectodermal dysplasia families to report their experiences of stigmatisation and its impact on reproductive decisions. I am on the Ethics Advisory Group of Genomics England and on the Public and Professional Policy Committee of the European Society of Human Genetics. I have (co)authored and edited ten books, including the latest edition of ‘Harper’s Practical Genetic Counselling’. I established and directed the Cardiff MSc course in Genetic Counselling from 2000 to 2018 and contribute to the teaching of MB and BSc students. I supervisesand examine doctoral students and am a medical adviser to Ectodermal Dysplasia UK, Rett UK and the Fragile X Society.
Professional memberships
British Society for Genetic Medicine (including the Clinical Genetics Society)
European Society of Human Genetics
Royal College of Paediatrics and Child Health (Fellow)
Royal College of Physicians (Fellow)
Academic positions
Previous Employment
Jan 1987-Jan 1989 Research Associate and (Hon) Senior Registrar in Departments of Human Genetics and Child Health, University of Newcastle upon Tyne, England.
June 1985-Dec 1986 Research Associate in Section of Medical Genetics, University of Wales College of Medicine, and (Hon) Registrar in Paediatrics, South Glamorgan Hospitals
May 1983-May 1985 Registrar in General and Neonatal Paediatrics, South Glamorgan Health Authority
August 1982 - April 1983 Senior House Officer in Neonatal Medicine, Bristol Maternity Hospital
August 1981-July 1982 Senior House Officer in Paediatrics, South Manchester Hospitals
August 1980-July 1981 Senior House Officer in General Medicine Peterborough District General Hospital
August 79-July 80 House Officer, John Radcliffe Hospital, Oxford
Committees and reviewing
- Member of the Public and Professional Policy Committee of the European Society of Human Genetics (2016-2022)
- Cardiff and Vale University Health Board Clinical Ethics Committee (Member from 2008, Chair from 2018)
- Member, Ethics Advisory Group, Genomics England (from 2014)
- Policy work on genetic testing in childhood:
- Chair, Clinical Genetics Society Working Party (1991-4)
- Co-chair of the working party of the British Society for Genetic Medicine (2019-21)
- Member of working parties on the same topic for European Society of Human Genetics (2008-9 and 2020-) and for the
- British Society for Human Genetics (2008-10).
- Chairman, Medical Board, Ectodermal Dysplasia Society; Chief Medical Adviser, Rett UK; Adviser: Fragile X Association
- Member of the Board, European Society of Human Genetics (2015-18)
- Editorial Board Member for Communication & Medicine (2003-), Journal of Community Genetics (2009-), European Journal of Human Genetics (2015-)
- Represented Chief Medical Officer Wales on the Human Genetics Commission 2006-12 and Emerging Science and Bioethics Committee 2012-14 in the Dept of Health, London
- Wellcome Trust Bioethics and Society Panel (2011-14)
- Member of Council, British Society for Genetic Medicine (2011-14)
- Member of Genetics Steering Group, Ethics Division, British Medical Association 1995-8
- Chairman, Specialty Advisory Committee on Clinical Genetics, Joint Committee on Higher Medical Training 1996 to 2000 (Member from 1993, Secretary from 1994)
Supervisions
Genetic counselling
Social and ethical aspects of human and medical genetics
Clinical genetics
Medical ethics