Yr Athro Peter Harper

2018

• Harper, P. S. 2018. Activities and initiatives of the renewed European Society of Human Genetics (ESHG) (1992-2017). European Journal of Human Genetics 25, pp. S2-S5. (10.1038/ejhg.2017.141)

2017

• Harper, P. 2017. The European Society of Human Genetics: beginnings, early history and development over its first 25 years. European Journal of Human Genetics (10.1038/ejhg.2017.34)
• Harper, P. 2017. Some pioneers of European human genetics. European Journal of Human Genetics (10.1038/ejhg.2017.47)
• Harper, P. S. 2017. Human genetics in troubled times and places. Hereditas 155, article number: 7. (10.1186/s41065-017-0042-4)
• Harper, P. 2017. Lysenko and Russian genetics: Reply to Wang & Liu. European Journal of Human Genetics 25(10), article number: 1098. (10.1038/ejhg.2017.118)
• Harper, P. 2017. Recorded interviews with human and medical geneticists. Human Genetics 136(2), pp. 149-164. (10.1007/s00439-016-1744-9)

2013

• McKusick, V. A. and Harper, P. S. 2013. History of medical genetics. In: Rimoin, D. L., Pyeritz, R. E. and Korf, B. eds. Emery and Rimoin's Principles and Practice of Medical Genetics. Elsevier, pp. 1-39., (10.1016/B978-0-12-383834-6.00001-X)

2008

• 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)

2004

• 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)

2002

• McEntagart, M. et al. 2002. Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness. Journal of Neurology, Neurosurgery & Psychiatry 73(6), pp. 762. (10.1136/jnnp.73.6.762)
• Brain, K. E., Norman, P., Gray, J., Rogers, C., Mansel, R. E. and Harper, P. 2002. A randomized trial of specialist genetic assessment: psychological impact on women at different levels of familial breast cancer risk. British Journal of Cancer 86(2), pp. 233-238. (10.1038/sj.bjc.6600051)

2001

• Harper, P., Evans, R., Elliston, L., Ironside, J. W., Jones, L. and Lazarou, L. 2001. Huntington's disease intermediate allele and new variant CJD. American Journal of Human Genetics 69(4), pp. 547-547.
• Jones, L., Duce, J., Elliston, L. and Harper, P. 2001. The involvement of transcriptional repressor proteins in Huntington's disease. Journal of Medical Genetics 38(Suppl1), pp. S65-S65.
• 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

• Brain, K. E. et al. 2000. Randomized trial of a specialist genetic assessment service for familial breast cancer. Journal of the National Cancer Institute 92(16), pp. 1345-1351. (10.1093/jnci/92.16.1345)
• 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)

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.
• 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.

1997

• Harper, P. S. and Clarke, A. J. 1997. Genetics, society and clinical practice. Garland Science.
• Scourfield, J., Soldan, J., Gray, J., Houlihan, G. and Harper, P. S. 1997. Huntington's disease: psychiatric practice in molecular genetic prediction and diagnosis. British Journal of Psychiatry 170(2), pp. 146-149. (10.1192/bjp.170.2.146)

1996

• Gray, J. R., Soldan, J. R. and Harper, P. S. 1996. Special problems of genetic counseling in adult-onset diseases: Huntington’s disease as a model. In: Baker, H. F. and Ridley, R. M. eds. Prion Diseases. Methods in Molecular Medicine Vol. 3. Humana Press, pp. 199-210., (10.1385/0-89603-342-2:199)

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)

1994

• James, C., Houlihan, G. D., Snell, R. G., Cheadle, J. P. and Harper, P. S. 1994. Late-onset Huntington's Disease: a clinical and molecular study. Age and Ageing 23(6), pp. 445-448. (10.1093/ageing/23.6.445)
• 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)

1993

• 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)
• 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)
• MacMillan, J. C. et al. 1993. Molecular analysis and clinical correlations of the Huntington's disease mutation. The Lancet 342(8877), pp. 954-958. (10.1016/0140-6736(93)92002-B)
• Snell, R. G. et al. 1993. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genetics 4(4), pp. 393-397. (10.1038/ng0893-393)

1992

• al-Jader, L. N. et al. 1992. Severity of chest disease in cystic fibrosis patients in relation to their genotypes. Journal of Medical Genetics 29(12), pp. 883-887. (10.1136/jmg.29.12.883)
• 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)

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.
• 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.

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)

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)

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)
• 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)

1986

• 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)