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Yr Athro Clarke Clarke
Ymchwil, addysgu ac ymgysylltu ochr yn ochr â gweithgareddau clinigol (anrhydeddus) ar gyfer C&V UHB.
- Sylwebydd y cyfryngau
- Ar gael fel goruchwyliwr ôl-raddedig
Trosolwyg
Rwyf wedi gweithio fel genetegydd clinigol ers 1989 ond, ers 2023, rwyf wedi ymddeol o waith clinigol rheolaidd. Rwy'n parhau i ymwneud ag ymchwil prin i glefydau, cyhoeddi llyfrau ac allbynnau o brosiectau ymchwil, addysgu myfyrwyr MSc a threial clinigol parhaus.
Mae fy ngwaith academaidd wedi ei rannu rhwng ymchwil, addysgu ac ysgolheictod. Mae gen i ddiddordebau ymchwil hirsefydlog mewn ychydig o anhwylderau genetig penodol (yn enwedig syndrom Rett a dyslasia ectodermal) ac yn y broses cwnsela genetig. Rwy'n astudio'r hyn sy'n digwydd yn y clinig cwnsela genetig, prosesau cyfathrebu teuluol, a phynciau ehangach fel stigmateiddio mewn perthynas ag ymddangosiad corfforol. Sefydlais a chyd-gyfarwyddo cwrs MSc Prifysgol Caerdydd mewn Cwnsela Genetig (yn 2000) ac rwy'n parhau i gymryd rhan nawr ei fod wedi dod yn gwrs MSc mewn Cwnsela Genetig a Genomig.
Mae fy ngwaith clinigol yn cynnwys clinigau 'geneteg gyffredinol' a gynhelir yng Nghaerdydd a'r Rhondda a chlinigau arbenigol yn Cadiff, gyda ffocws ar glefyd Huntington, clefyd y cyhyrau a syndrom Rett. Mae'r gwaith hwn yn cynnwys rhai agweddau ar reoli clefydau yn ogystal â mynd i'r afael â chwestiynau a phryderon cleifion a theuluoedd ynglŷn â geneteg eu hanhrefn.
Mae gen i rôl ym Mwrdd Iechyd Prifysgol Caerdydd a'r Fro fel Prif Ymchwilydd ar dreial clinigol ac ar y Pwyllgor Moeseg Clinigol (fel cadeirydd gynt).
Rwyf hefyd yn aml yn ymwneud â gwaith ar bolisïau cyhoeddus a phroffesiynol mewn perthynas ag anhwylderau genetig. Mae hyn wedi cynnwys prosiectau diweddar a chyfredol ar gyfer Cymdeithas Ewropeaidd Geneteg Ddynol, Cyngor Nuffield ar Biofoeseg a Chymdeithas Meddygaeth Genetig Prydain. Rwy'n drefnydd Fforwm Geneseg y Deyrnas Unedig.
Yn ogystal â'r cyhoeddiadau academaidd arferol mewn cyfnodolion, rwyf wedi cynhyrchu deg llyfr fel awdur neu olygydd:
Clarke A. 2020. Harper's Practical Genetic Counselling (8th edition). Taylor & Francis [9fed rhifyn yn paratoi gyda Marc Tischkowitz a Sofia Douzgou Houge].
*Dagmar Schmitz, Angus Clarke, Wybo Dondorp (Eds). 2018. Y ffetws fel claf: cysyniad gwrthdystiedig a'i oblygiadau normadol. Abingdon: Routledge
*Kaufmann WE, Percy AK, Clarke AJ, Leonard H, Naidu SB (Eds.). 2017. Syndrom Rett. Llundain: McKeith Press (Clinics in Developmental Medicine Series)
*Arribas-Ayllon M, Sarangi S, Clarke A. 2011. profion genetig. Llundain: Routledge
Clarke A, Ticehurst F (eds) 2006. Byw gyda'r genom. Agweddau moesegol a chymdeithasol ar eneteg dynol . Basingstoke ac Efrog Newydd: Palgrave Macmillan
* Featherstone K, Bharadwaj A, Clarke A, Atkinson P. 2006. Cysylltiadau Peryglus. Teulu a Kinshipnin Cyfnod Geneteg Newydd. Rhydychen: Cyhoeddwyr Berg
Clarke A (gol) 1998 Profi Genetig Plant. Rhydychen: Cyhoeddwyr Gwyddonol Bios
Harper PS, Clarke A 1997 Geneteg, Cymdeithas ac Ymarfer Clinigol. Rhydychen: Bios
Clarke A, Parsons EP (eds) 1997 Diwylliant, Kinship a Genes. Sylfaen: Macmillan
Clarke A (gol). 1994. "Cwnsela Genynnol: ymarfer ac egwyddorion". Llundain: Routledge
Cyhoeddiad
2024
- 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 32, pp. 1436-1445. (10.1038/s41431-024-01636-5)
- 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)
- 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)
Adrannau llyfrau
- 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.
Cynadleddau
- 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.
Erthyglau
- 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 32, pp. 1436-1445. (10.1038/s41431-024-01636-5)
- 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)
- 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)
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- Ravine, D. et al. 2000. Uniparental disomy, molecular and social difficulties in interpretation. Journal of Medical Genetics 37(Supp 1), pp. S65-S65.
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- 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)
- 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)
- 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.
- 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)
- 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)
Llyfrau
- 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.
Monograffau
- 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)
Ymchwil
Mae fy niddordebau yn cynnwys (i) agweddau genetig clinigol ar syndrom Rett (ac anhwylderau cysylltiedig) a dysplasia ectodermaidd, a (ii) agweddau cymdeithasol a moesegol ehangach clefyd genetig, megis stigmateiddio mewn perthynas ag ymddangosiad corfforol.
Mae fy mhrif brosiect nawr yn brosiect a ariennir gan ESRC ar sut mae cleifion yn gwneud penderfyniadau am brofion genetig. Mae hyn yn edrych yn arbennig ar (a) profion genetig rhagfynegol ar gyfer clefydau sy'n dechrau yn hwyr (fel clefyd Huntington) a (b) ymchwilio a rheoli beichiogrwydd pan fo sgan uwchsain o'r ffetws (baban heb ei eni) wedi dangos arwyddion o broblem strwythurol ddifrifol, megis nam cynhenid ar y galon. Mae'r prosiect hwn yn gydweithrediad gan gynnwys Southampton, Caerwysg, Bryste ac Abertawe yn ogystal â Chaerdydd.
Rydym yn canolbwyntio ar yr hyn sy'n bwysig i bobl yn eu bywydau ehangach y tu allan i'r clinig - eu 'byd bywyd' - ac nid dim ond yr hyn sy'n digwydd yn y clinigau, ym myd meddyginiaeth. Rydym felly yn gofyn i gleifion gadw dyddiaduron am yr hyn sy'n digwydd iddyn nhw, yn ogystal â chofnodi ymgynghoriadau clinigau a thrafodaethau a chyfweld â chleifion ar ddiwedd y broses.
Rwy'n trefnu dosbarthu llinellau celloedd iPS sy'n deillio o gleifion ag anhwylderau sy'n gysylltiedig â CDKL5- a FOXG1, a ddatblygwyd o ddau brosiect ymchwil diweddar i anhwylderau niwrolegol sy'n gysylltiedig â syndrom Rett.
Rydym hefyd yn paratoi ar gyfer cyflwyno treial arbrofol o driniaeth i'r DU mewn utero o foetysau gwrywaidd yr effeithir arnynt gan dyplasia ectodermal hypohidrotig sy'n gysylltiedig ag X. Mae hyn yn cael ei sefydlu gan 'Esperare' mewn cydweithrediad â phartneriaid diwydiannol a gellir ei ystyried yn ddilyniant i'r treial diweddar o drin babanod newydd gwrywaidd yr effeithir arnynt gan yr un cyflwr (a reolir gan Edimer Pharmaceuticals).
Addysgu
Mae fy ymrwymiad addysgu yn perthyn i bedwar categori.
(i) MSc mewn Cwnsela Genetig, sydd bellach yn MSc mewn Cwnsela Genetig a Genomig
Sefydlais y cwrs hwn a bu'n gyfarwyddwr cwrs tan iddo ddod i ben yn 2018. Rwy'n parhau i gymryd rhan weithredol yn y cwrs llwyddiannus mewn cwnsela genetig a genomig, sy'n gwrs ar-lein i raddau helaeth wedi'i gyfarwyddo gan yr Athro Marion MacAllister.
(ii) BSc mewn Geneteg Feddygol
Sefydlais y cwrs BSc blwyddyn rhyng-gyfrifedig hwn ar gyfer myfyrwyr meddygol israddedig ym 1990 ac rwyf wedi parhau i gymryd rhan weithredol ers hynny, fel darlithydd ac arweinydd modiwlau.
(iii) Cwrs Meddygol Israddedig
Rwy'n cyfrannu at y cwrs MB BCh dros y pedair blynedd gyntaf, wrth addysgu Geneteg Feddygol a phynciau mwy cyffredinol fel Proffesiynoldeb, mewn darlithoedd ffurfiol ac mewn sesiynau tiwtorial grŵp bach. Rwy'n cynnig Cydrannau a Ddewisir gan Fyfyrwyr ym Mlynyddoedd 1, 3 a 4 y cwrs.
(iv) Myfyrwyr Doethurol
Fel arfer rwy'n goruchwylio un neu ddau o fyfyrwyr ymchwil (PhD neu MD) sy'n gweithio ar fiofoeseg neu bynciau cysylltiedig, fel pennaeth neu fel cyd-oruchwyliwr.
Bywgraffiad
Addysg a Chymwysterau
BA II-1 Geneteg 1976 Coleg y Brenin, Caergrawnt
BM, BCh Rhydychen 1979
MRCP (DU) Coleg Brenhinol y Meddygon Llundain 1982
DM Rhydychen 1989
FRCP (lond) 1994, FRCPCH 1997
Sefyllfa bresennol
Rwyf wedi bod yn Athro mewn Geneteg Glinigol ers 2000. Cyn hynny roeddwn yn Ddarllenydd o 1996 a chyn hynny, Uwch Ddarlithydd o 1989. Cynhelir y swydd hon yn yr Is-adran Canser a Geneteg, Ysgol Meddygaeth, Prifysgol Caerdydd. Rwyf hefyd yn Genetegydd Clinigol Ymgynghorol Anrhydeddus, yng Ngwasanaeth Genomeg Meddygol Cymru Gyfan, wedi'i leoli ym Mwrdd Iechyd Prifysgol Caerdydd a'r Fro.
Trosolwg Gyrfa
Astudiais Geneteg gyntaf (BA, 1976) ac yna cymhwysais mewn Meddygaeth Glinigol (BM, BCh 1979). Ar ôl cofrestru, gweithiais mewn Meddygaeth Gyffredinol ac yna Pediatreg. Astudiais geneteg glinigol a moleciwlaidd dysplasia ectodermaidd yng Nghaerdydd ac yna gweithiais mewn geneteg glinigol a niwroleg bediatreg yn Newcastle upon Tyne, gan ddatblygu diddordeb mewn syndrom Rett ac anhwylderau niwrogyhyrol. Dychwelais i Gaerdydd yn 1989 ac rwyf bellach yn Athro mewn Geneteg Glinigol yn Ysgol Meddygaeth Prifysgol Caerdydd ac yn Ymgynghorydd Anrhydeddus i Wasanaeth Genomeg Meddygol Cymru Gyfan.
Rwyf wedi parhau â'm diddordeb mewn syndrom Rett, gydag ymchwil moleciwlaidd a chell yn yr amodau CDKL5 a FOXG1 sydd â chysylltiad agos â syndrom Rett. Rwyf hefyd wedi cadw diddordeb mewn dysplasia ectodermaidd ac wedi datblygu diddordebau pellach mewn sgrinio genetig, y broses cwnsela genetig a'r materion cymdeithasol a moesegol sy'n ymwneud â geneteg ddynol. Roeddwn yn cymryd rhan mewn treial clinigol o driniaeth ar gyfer dynion newydd-anedig yr effeithiwyd arnynt gan dysplasia ectodermaidd hypohidrotig cysylltiedig â rhyw (XHED) ac rwyf bellach yn paratoi ar gyfer treial triniaeth mewn utero.
Mae fy niddordeb mewn gwyddor gymdeithasol a moeseg wedi datblygu o fy mhrofiadau clncal, ac yn enwedig o dreulio cymaint o amser gyda theuluoedd sy'n cael eu heffeithio gan ddysplasia ectodermaidd. Mae hyn wedi fy arwain i ganolbwyntio ar y ffactorau 'byd bywyd' sy'n dylanwadu ar gyfathrebu teuluol am gyflyrau genetig a hefyd (yn fy mhrosiect presennol a ariennir gan ESRC) y ffactorau sy'n effeithio ar benderfyniadau cleifion. Rwyf wedi gweithio gyda theuluoedd dysplasia ectodermaidd i adrodd eu profiadau o stigmateiddio a'i effaith ar benderfyniadau atgenhedlu. Rwyf ar Grŵp Cynghori Moeseg Genomeg Lloegr ac ar Bwyllgor Polisi Cyhoeddus a Phroffesiynol Cymdeithas Ewropeaidd Geneteg Ddynol. Rwyf wedi ysgrifennu a golygu deg llyfr, gan gynnwys y rhifyn diweddaraf o 'Harper's Practical Genetic Counselling'. Sefydlais a chyfarwyddais gwrs MSc Caerdydd mewn Cwnsela Genetig rhwng 2000 a 2018 a chyfrannu at addysgu myfyrwyr MB a BSc. Rwy'n goruchwylio ac yn archwilio myfyrwyr doethurol ac rwy'n ymgynghorydd meddygol i Ectodermal Dysplasia UK, Rett UK a'r Fragile X Society.
Aelodaethau proffesiynol
Cymdeithas Meddygaeth Genetig Prydain (gan gynnwys y Gymdeithas Geneteg Glinigol)
Cymdeithas Ewropeaidd Geneteg Dynol
Coleg Brenhinol Pediatreg ac Iechyd Plant (Cymrodyr)
Coleg Brenhinol y Meddygon (Cymrodyr)
Safleoedd academaidd blaenorol
Cyflogaeth flaenorol
Jan 1987-Jan 1989 Cydymaith Ymchwil a (Anrh) Uwch Gofrestrydd yn Adrannau Geneteg Dynol ac Iechyd Plant, Prifysgol Newcastle upon Tyne, Lloegr.
Mehefin 1985-Rhagfyr 1986 Cydymaith Ymchwil yn Adran Geneteg Feddygol, Coleg Meddygaeth Prifysgol Cymru, a (Anrh) Cofrestrydd mewn Pediatreg, Ysbytai De Morgannwg
Mai 1983-Mai 1985 Cofrestrydd mewn Pediatreg Cyffredinol a Newyddenedigol, Awdurdod Iechyd De Morgannwg
Awst 1982 - Ebrill 1983 Uwch Swyddog Tai mewn Meddygaeth Newyddenedigol, Ysbyty Mamolaeth Bryste
Awst 1981-Gorffennaf 1982 Uwch Swyddog Tŷ mewn Pediatreg, Ysbytai De Manceinion
Awst 1980-Gorffennaf 1981 Uwch Swyddog Tai mewn Meddygaeth Gyffredinol Ysbyty Cyffredinol Peterborough
Awst 79-Gorffennaf 80 Swyddog Tŷ, Ysbyty John Radcliffe, Rhydychen
Pwyllgorau ac adolygu
- Aelod o Bwyllgor Polisi Cyhoeddus a Phroffesiynol Cymdeithas Ewropeaidd Geneteg Dynol (2016-2022)
- Pwyllgor Moeseg Clinigol Bwrdd Iechyd Prifysgol Caerdydd a'r Fro (Aelod o 2008, Cadeirydd o 2018)
- Aelod, Grŵp Cynghori Moeseg, Genomics Lloegr (o 2014)
- Gwaith polisi ar brofion genetig yn ystod plentyndod:
- Cadeirydd, Gweithgor y Gymdeithas Geneteg Glinigol (1991-4)
- Cyd-gadeirydd gweithgor Cymdeithas Meddygaeth Genetig Prydain (2019-21)
- Aelod o weithgorau ar yr un pwnc ar gyfer Cymdeithas Ewropeaidd Geneteg Dynol (2008-9 a 2020-) ac ar gyfer y
- Cymdeithas Geneteg Ddynol Prydain (2008-10).
- Cadeirydd, Bwrdd Meddygol, Cymdeithas Dysplasia Ectodermaidd; Prif Gynghorydd Meddygol, Rett UK; Cynghorydd: Cymdeithas X Bregus
- Aelod o'r Bwrdd, Cymdeithas Ewropeaidd Geneteg Dynol (2015-18)
- Aelod Bwrdd Golygyddol Cyfathrebu a Meddygaeth (2003-), Journal of Community Genetics (2009-), European Journal of Human Genetics (2015-)
- Cynrychiolodd Brif Swyddog Meddygol Cymru ar Gomisiwn Geneteg Dynol 2006-12 a Phwyllgor Gwyddoniaeth a Biofoeseg sy'n Dod i'r Amlwg 2012-14 yn Adran Iechyd, Llundain
- Panel Biofoeseg a Chymdeithas Ymddiriedolaeth Wellcome (2011-14)
- Aelod o'r Cyngor, Cymdeithas Meddygaeth Genetig Prydain (2011-14)
- Aelod o'r Grŵp Llywio Geneteg, Is-adran Moeseg, Cymdeithas Feddygol Prydain 1995-8
- Cadeirydd, Pwyllgor Cynghori Arbenigedd ar Eneteg Glinigol, Cydbwyllgor ar Hyfforddiant Meddygol Uwch 1996 i 2000 (Aelod o 1993, Ysgrifennydd o 1994)
Meysydd goruchwyliaeth
Cwnsela genetig
Agweddau cymdeithasol a moesegol ar eneteg ddynol a meddygol
Geneteg glinigol
Moeseg feddygol
Ymgysylltu
Yn ogystal â rolau o fewn sefydliadau proffesiynol (gweler Overview), rwy'n cyfrannu at waith sawl sefydliad cymorth i gleifion:
*fel Cadeirydd Bwrdd Cynghori Meddygol Ectodermal Dysplasia UK
* Prif Gynghorydd Meddygol Rett UK
*fel Cynghorydd Arbennig i'r Gymdeithas Fragile X
Mae rolau proffesiynol eraill dros y blynyddoedd wedi cynnwys:
- Aelod o Bwyllgor Polisi Cyhoeddus a Phroffesiynol Cymdeithas Ewropeaidd Geneteg Dynol (2016-2022)
- Pwyllgor Moeseg Clinigol Bwrdd Iechyd Prifysgol Caerdydd a'r Fro (Aelod o 2008, Cadeirydd o 2018)
- Aelod, Grŵp Cynghori Moeseg, Genomics Lloegr (o 2014)
- Gwaith polisi ar brofion genetig yn ystod plentyndod:
- Cadeirydd, Gweithgor y Gymdeithas Geneteg Glinigol ar Brofi Genetig Plant (1991-4)
- Cyd-gadeirydd gweithgor Cymdeithas Meddygaeth Genetig Prydain ar yr un pwnc (2019-21)
- Aelod o weithgorau ar yr un pwnc ar gyfer Cymdeithas Ewropeaidd Geneteg Dynol (2008-9 a 2020-) ac ar gyfer y
- Cymdeithas Geneteg Ddynol Prydain (2008-10).
- Aelod o'r Bwrdd, Cymdeithas Ewropeaidd Geneteg Dynol (2015-18)
- Aelod Bwrdd Golygyddol Cyfathrebu a Meddygaeth (2003-), Journal of Community Genetics (2009-), European Journal of Human Genetics (2015-)
- Cynrychiolodd Brif Swyddog Meddygol Cymru ar Gomisiwn Geneteg Dynol 2006-12 a Phwyllgor Gwyddoniaeth a Biofoeseg sy'n Dod i'r Amlwg 2012-14 yn yr Adran Iechyd, Llundain
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