P. Harper

发表

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Manish S. Shah, A. Poustka, D. Church, 1993, Cell.

Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

J. Farnham, S. Huson, P. Harper, 1992, Human molecular genetics.

Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

S. Huson, P. Harper, M. Upadhyaya, 1995, Journal of medical genetics.

Six novel mutations in the neurofibromatosis type 1 (NF1) gene

P. Harper, M. Upadhyaya, J. Maynard, 1997 .

Polycystic kidney disease re-evaluated: a population-based study.

A. Williams, P. Harper, F. Davies, 1991, The Quarterly journal of medicine.

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.

P S Harper, D Curtis, S. Folstein, 1996, American journal of human genetics.

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

M. MacDonald, R. Snell, J. Gusella, 1993, Nature Genetics.

Mapping genetic markers on human chromosome 19 using subchromosomal fragments in somatic cell hybrids.

D. Shaw, P. Harper, J. Brook, 1986, Cytogenetics and cell genetics.

Mild form of Hunter's syndrome: clinical delineation based on 31 cases.

P. Harper, I. Young, 1982, Archives of disease in childhood.

Genetic prediction and family structure in Huntington's chorea.

P. Harper, M. Sarfarazi, 1985, British medical journal.

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

David E. Housman, Russell G. Snell, Hiroyuki Aburatani, 1992, Cell.

aspects . dystrophy : mortality and long term clinical The natural history of congenital myotonic

R. Newcombe, W. Reardon, P. Harper, 2004 .

Eight years' experience of direct molecular testing for myotonic dystrophy in Wales

P. Harper, D. Ravine, S. Fokstuen, 2001, Journal of medical genetics.

Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions

J. Brookfield, P. Harper, J. Brook, 1999, Journal of medical genetics.

PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness

C. M. Wiles, P. Harper, R. Barnetson, 1998, Neuromuscular Disorders.

Thenatural history ofcongenital myotonic dystrophy: mortality andlong termclinical aspects

R. Newcombe, W. Reardon, P. Harper, 1993 .

The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects.

R. Newcombe, W. Reardon, P. Harper, 1993, Archives of disease in childhood.

Cataract and myotonic dystrophy: the role of molecular diagnosis.

W. Reardon, D. Shaw, P. Harper, 1993, The British journal of ophthalmology.

Detection of minimum mutation carriers in myotonic dystrophy

D. Shaw, P. Harper, H. Harley, 1992, The Lancet.

Molecular analysis for the myotonic dystrophy mutation in neuromuscular disorders

W. Reardon, D. Shaw, P. Harper, 1992, Neuromuscular Disorders.

Minimal expression of myotonic dystrophy: a clinical and molecular analysis.

W. Reardon, D. Shaw, P. Harper, 1992, Journal of medical genetics.

Heart disease in myotonic dystrophy

W. Reardon, P. Harper, 1992, The Lancet.

Minimalexpression ofmyotonic dystrophy: a clinical andmolecular analysis

W. Reardon, P. Harper, H. Harley, 1992 .

Editor's note

P. Harper, 1992 .

Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.

D. Shaw, P. Harper, G. Norbury, 1992, Journal of medical genetics.

CTG mutation in myotonic dystrophy . Specific molecular prenatal diagnosis for the

D. Shaw, P. Harper, G. Norbury, 2022 .

Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor.

P. Harper, P. Dyken, 1972, Lancet.

Congenital dystrophia myotonica

P. Harper, P. Dyken, 1973, Neurology.

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

David E. Housman, J. David Brook, Peter S. Harper, 1992, Nature.

Sanfilippo A disease in the fetus

R. W. Logan, M. Ferguson-Smith, K. Figura, 1974, Journal of medical genetics.

Population based study of late onset cerebellar ataxia in south east Wales

D Ravine, P S Harper, C. Wiles, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

A genetic register for Huntington's chorea in South Wales.

R. Newcombe, P. Harper, A. Tyler, 1982, Journal of medical genetics.

Single‐gene neurological disorders in south wales: An epidemiological study

P. Harper, J. MacMillan, P. Harper, 1991, Annals of neurology.

Motor neurone disease--a study of prevalence and disability.

C. M. Wiles, P. Harper, C. James, 1994, QJM : monthly journal of the Association of Physicians.

Myotonic disorders

P. Harper, 2002, Journal of the Neurological Sciences.

Implications of diagnostic delay in Duchenne muscular dystrophy.

P. Harper, J. Sibert, T. O'brien, 1983, British medical journal.

Early diagnosis and secondary prevention of Duchenne muscular dystrophy.

P. Harper, S. Wallace, J. Sibert, 1989, Archives of disease in childhood.

Screening for Duchenne muscular dystrophy.

A. Clarke, P. Harper, J. Sibert, 1989, Archives of disease in childhood.

Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales

S. Huson, P. Harper, D. Compston, 1988 .

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

S. Huson, P. Harper, D. Compston, 1989, Journal of medical genetics.

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling.

S. Huson, P. Harper, D. Compston, 1989, Journal of medical genetics.

The Frequency of Inherited Disorders Database: Prevalence of Huntington Disease

M. Krawczak, P. Harper, L. Al-Jader, 2002, Public Health Genomics.

Blood pressure and myotonic dystrophy

R. Newcombe, P. Harper, T. O'brien, 1983, Clinical genetics.

HUNTINGTON'S CHOREA

J. Edwards, P. Harper, E. Bird, 1977, The Lancet.

Fiftieth anniversary of trisomy 21: returning to a discovery

P. Harper, M. Gautier, 2009, Human Genetics.

Medical Genetic Studies of the Amish. Selected Papers

P. Harper, 1979 .

The Management of Genetic Disorders

P. Harper, 1981 .

Recombination events suggest potential sites for the Huntington's disease gene

A. Poustka, J. Haines, M. Bucan, 1989, Neuron.

Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90.

J. Haines, M. Hayden, S. Youngman, 1989, American journal of human genetics.

A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3.

S. Youngman, J. Wasmuth, D. Shaw, 1988, Nucleic acids research.

The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD).

J. Farnham, P. Harper, M. Upadhyaya, 1992, American journal of human genetics.

What do we mean by genetic testing?

P. Harper, Peter S. Harper, 1997, Journal of medical genetics.

RECURRENCE RISK IN OSTEOGENESIS IMPERFECTA CONGENITA

P. Harper, I. Young, 1980, The Lancet.

EXCLUSION TESTING FOR HUNTINGTON'S DISEASE IN PREGNANCY WITH A CLOSELY LINKED DNA MARKER

S. Youngman, P. Harper, M. Upadhyaya, 1987, The Lancet.

Genetic Variation in the 3′ Untranslated Region of the Neurofibromatosis 1 Gene: Application to Unequal Allelic Expression

J. Gusella, B. Korf, G. Cowley, 1998, Somatic cell and molecular genetics.

Amplification of the total coding sequence of the NF1 gene from peripheral blood lymphocyte RNA.

P. Harper, M. Upadhyaya, M. Shen, 1995, PCR methods and applications.

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

J. Allanson, P. Harper, M. Upadhyaya, 1991, Journal of medical genetics.

Chapter 12 – Central nervous system and psychiatric disorders

P. Harper, 1988 .

Introduction to Glutamine repeats and neurodegenerative diseases: molecular aspects. A Discussion Meeting held at the Royal Society on 7 and 8 October 1998

M. Perutz, M. Ferguson-Smith, P. Harper, 1999 .

Genetic testing for Huntington's disease.

P. Harper, M. Morris, A. Tyler, 1990, BMJ.

Genetic counselling: an introduction

P. Harper, 1988 .

Family Break-Down and Stress in Huntington's Chorea

P. Harper, A. Tyler, K. Davies, 1983, Journal of Biosocial Science.

A genetic marker for Huntington's chorea.

P. Harper, 1983, British medical journal.

Huntingtin interacts with cystathionine beta-synthase.

J. M. Boutell, P. Harper, J. Wood, 1998, Human molecular genetics.

Hereditary distal spinal muscular atrophy with vocal cord paralysis.

P. Harper, I. Young, 1980, Journal of neurology, neurosurgery, and psychiatry.

Advances in myotonic dystrophy: a clinical and genetic perspective.

W. Reardon, P. Harper, 1992, Current opinion in neurology and neurosurgery.

HUNTINGTON'S CHOREA

J. Edwards, P. Harper, E. Bird, 1977, The Lancet.

POSTOPERATIVE COMPLICATIONS IN MYOTONIC DYSTROPHY

P. Harper, 1989, The Lancet.

Gene mapping and chromosome 19.

D. Shaw, P. Harper, M. Sarfarazi, 1986, Journal of medical genetics.

Congenital hypothyroidism, spiky hair, and cleft palate.

P. Harper, I. Hughes, J. Bamforth, 1989, Journal of medical genetics.

Genatlas

P. Harper, 1992 .

Genetic testing for familial hypertrophic cardiomyopathy in newborn infants.

P. Nihoyannopoulos, A. Clarke, P. Harper, 1995, BMJ.

Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.

R. Winter, A. Wilkie, P. Harper, 2001, The Journal of clinical endocrinology and metabolism.

Huntington's Chorea in South Wales A genetic and epidemiological study

D. A. Walker, R. Newcombe, P. Harper, 1981, Clinical genetics.

Population studies of Huntington's disease in Wales

P. Harper, O. Quarrell, M. P. Jones, 1988, Clinical genetics.

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

N. Rahman, P. Futreal, N. Norton, 2001, American journal of human genetics.

Benign hereditary chorea Clinical and genetic aspects

P. Harper, 1978, Clinical genetics.

Sequence variation at the phenylalanine hydroxylase gene in the British Isles.

P. Harper, D. Pilz, J. Bidwell, 1997, American journal of human genetics.

CARCINOMA OF THE OESOPHAGUS WITH TYLOSIS1

P. Harper, A. Howel-Evans, R. Harper, 1970 .

Carcinoma of the oesophagus with tylosis.

P. Harper, A. Howel-Evans, R. Harper, 1970, The Quarterly journal of medicine.

Huntington disease and the abuse of genetics.

P. Harper, Peter S. Harper, 1992, American journal of human genetics.

Segregation of linked probes to myotonic dystrophy in a family demonstrating that 152 and APOC2 are on the same side of DM on 19q

R. Bartlett, A. Roses, E. Nimmo, 1988, Human Genetics.

Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and Lutheran blood group loci.

V. McKusick, P. Harper, W. Bias, 1972, American journal of human genetics.

Carrier detection in Duchenne muscular dystrophy. Evidence from a study of obligatory carriers and mothers of isolated cases.

R. Newcombe, P. Harper, J. Sibert, 1979, Archives of disease in childhood.

The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy.

K. Davies, R. Williamson, P. Harper, 1983, Journal of medical genetics.

Familial motor neurone disease with dementia: phenotypic variation and cerebellar pathology

P. Harper, J. Neal, T. Polvikoski, 2003, Journal of neurology, neurosurgery, and psychiatry.

Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome.

K. Davies, R. Williamson, P. Harper, 1983, Nucleic acids research.

Mendelian Inheritance in Man

P. Harper, 1987 .

Recombinant DNA studies on stored necropsy brain samples from patients with Huntington's chorea.

G. Reynolds, P. Harper, M. Upadhyaya, 1985, Journal of clinical pathology.

DNA and enzyme studies on chorionic villi for use in antenatal diagnosis.

D. Shaw, P. Harper, B. Jasani, 1984, Clinica chimica acta; international journal of clinical chemistry.

DNA markers and Duchenne muscular dystrophy.

P. Harper, 1984, Archives of disease in childhood.

LOCALISATION OF GENE FOR BECKER MUSCULAR DYSTROPHY

K. Davies, P. Harper, P. Pearson, 1983, The Lancet.

FIRST TRIMESTER FETAL SEXING IN PREGNANCY AT RISK FOR DUCHENNE MUSCULAR DYSTROPHY

P. Harper, J. Gosden, N. Thomas, 1983, The Lancet.

Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences.

K. Davies, R. Williamson, P. Harper, 1983, Journal of medical genetics.

Clinical Genetics Services into the 21st Century

P. Harper, J. Raeburn, H. Hughes, 1996, Journal of the Royal College of Physicians of London.

Close flanking markers for neurofibromatosis type I (NF1).

P. Harper, M. Upadhyaya, A. Fryer, 1989, American journal of human genetics.

Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.

P. Harper, M. Upadhyaya, J. MacMillan, 1992, Journal of medical genetics.

Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness

N. Rahman, M. Dunstan, P. Harper, 2002, Journal of neurology, neurosurgery, and psychiatry.

Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD)

P. Harper, M. Upadhyaya, J. Maynard, 1995, Muscle & nerve. Supplement.

DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease

P. Harper, M. Upadhyaya, M. Owen, 1990, The Lancet.

A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales

P. Harper, A. Norman, 1989, Clinical genetics.

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

P. Harper, M. Koch, M. Upadhyaya, 1995, Human molecular genetics.

Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.

A. Clarke, P. Harper, D. Phillips, 1987, Archives of disease in childhood.

Linkage relationships of the insulin receptor gene with the complement component 3, LDL receptor, apolipoprotein C2 and myotonic dystrophy loci on chromosome 19

D. Shaw, P. Harper, G. Bell, 1986, Human Genetics.

Genetic risks for children of women with myotonic dystrophy.

P. Harper, M. Koch, T. Grimm, 1991, American journal of human genetics.

Congenital myotonic dystrophy in Britain. II. Genetic basis.

P. Harper, 1975, Archives of disease in childhood.

Congenital myotonic dystrophy in Britain. I. Clinical aspects.

P. Harper, Cardiff Harper, 1975, Archives of disease in childhood.

Congenital myotonic dystrophy inBritain

P. Harper, 1975 .

Huntington's chorea in South Wales: mutation, fertility, and genetic fitness.

D. A. Walker, R. Newcombe, P. Harper, 1983, Journal of medical genetics.

Presymptomatic testing for late‐onset genetic disorders: lessons from Huntington's disease

P. Harper, D. Ball, 1992, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Exclusion testing in pregnancy for Huntington's disease.

P. Harper, O. Quarrell, L. Lazarou, 1990, Journal of medical genetics.

Clinical consequences of isolating the gene for Huntington's disease.

P. Harper, 1993, BMJ.

Neurogenetics: Genetic counseling and genetic testing for neurogenetic disorders

D. Craufurd, P. Harper, 2012 .

Chapter 8 – Prenatal diagnosis

P. Harper, 1988 .

Audiological investigations in patients with late onset facioscapulohumeral muscular dystrophy (FSHD)

D. Stephens, P. Harper, M. Rogers, 2004 .

Should we test children for "adult" genetic diseases?

A. Clarke, P. Harper, Peter S. Harper, 1990, The Lancet.

The Charcot‐Marie‐Tooth syndrome: clinical aspects from a population study in South Wales, UK

P. Harper, J. MacMillan, 1994, Clinical genetics.

The Charcot‐Marie‐Tooth syndrome: perceptions of disability and projected use of DNA diagnostic tests

P. Harper, J. MacMillan, 1992, Clinical genetics.

Screening for hypertrophic cardiomyopathy.

A. Clarke, P. Harper, 1993, BMJ.

Family Screening for Genetic Disorders: Lessons from Huntington’s Disease

P. Harper, M. Morris, 1991 .

Genetic analysis of treated and untreated phenylketonuria in one family.

P. Harper, M. Osborn, L. Tyfield, 1990, Journal of medical genetics.

Identification of the haplotype pattern associated with the mutant PKU allele in the Gypsy population of Wales.

P. Harper, M. Osborn, L. Tyfield, 1989, Journal of medical genetics.

one family . untreated phenylketonuria in Genetic analysis of treated and

P. Harper, M. Osborn, L. Tyfield, 2022 .

Attitudes of mothers to neonatal screening for Duchenne muscular dystrophy.

D. K. Williams, P. Harper, J. Sibert, 1990, BMJ.

Screening for Duchenne muscular dystrophy.

P. Harper, M. Rogers, J. Sibert, 1989, Archives of disease in childhood.

Chapter 11 – Neuromuscular disease

P. Harper, 1988 .

Landmarks in medical Genetics :classic papers with commentaries

P. Harper, 2004 .

Late-onset Huntington's disease: a clinical and molecular study.

R. Snell, P. Harper, J. Cheadle, 1994, Age and ageing.

Age at onset and life table risks in genetic counselling for Huntington's disease.

R. Newcombe, P. Harper, 1992, Journal of medical genetics.

Leukaemia mortality among relatives of cystic fibrosis patients.

R. West, P. Harper, J. Holmes, 1991, Archives of Disease in Childhood.

Attitudes of parents of cystic fibrosis children towards neonatal screening and antenatal diagnosis

P. Harper, P. Harper, H. Ryley, 1990, Advances in experimental medicine and biology.

Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales The South Wales Cystic Fibrosis Carrier Screening Research Team

A. Clarke, P. Harper, J. Cheadle, 1997, Clinical genetics.

Attitudes of parents of cystic fibrosis children towards neonatal screening and antenatal diagnosis.

P. Harper, H. Ryley, L. Al-Jader, 1990, Clinical genetics.

Prenatal Testing for Late-onset Neurogenetic Diseases

P. Harper, G. Evers‐Kiebooms, M. Zoeteweij, 2002 .

Chapter 18 – Cardiovascular diseases

P. Harper, 1988 .

Genetics, Society and Clinical Practice

A. Clarke, P. Harper, 1997, Nature Medicine.

Multiple forms of iduronate 2-sulphate sulphatase in human tissues and body fluids.

P. Harper, F. Wusteman, I. Archer, 1982, Biochimica et biophysica acta.

Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1.

P. Harper, M. Upadhyaya, A. Fryer, 1992, Journal of medical genetics.

Molecular genetics in clinical practice: evolution of a DNA diagnostic service.

P. Harper, M. Upadhyaya, A. Meredith, 1988, BMJ.

Genetic testing for hypertrophic cardiomyopathy.

A. Clarke, P. Harper, 1992, The New England journal of medicine.

Julia Bell and the Treasury of Human Inheritance

P. Harper, 2005, Human Genetics.

DNA markers . dystrophy by means of linked prenatal diagnosis for myotonic Presymptomatic detection and

P. Harper, A. Meredith, A. Norman, 2022 .

Localisation of genetic markers and orientation of the linkage group on chromosome 19

G. Bruns, D. Shaw, P. Harper, 2004, Human Genetics.

Abstracts of workshop presentations pp. 1106-1116

R. L. Miller, D. Cox, D. Ledbetter, 1989 .

EARLY DEVELOPMENT OF BOYS WITH DUCHENNE MUSCULAR DYSTROPHY

P. Harper, J. Sibert, J. Sibert, 1990, Developmental medicine and child neurology.

Cerebellar haemangioblastoma and von Hippel-Lindau disease.

R. Weeks, S. Huson, P. Harper, 1986, Brain : a journal of neurology.

The New Genetics and Clinical Practice

P. Harper, 1992 .

Intragenic deletions in 164 boys with Duchenne muscular dystrophy (DMD) studied with dystrophin cDNA

P. Harper, M. Upadhyaya, N. Thomas, 1990, Clinical genetics.

Genetic heterogeneity in X-linked amelogenesis imperfecta.

P. Harper, I. Fenton, N. Thomas, 1992, Genomics.

Research samples from families with genetic diseases: a proposed code of conduct.

P. Harper, 1993, BMJ.

A life of Sir Francis Galton. From African exploration to the birth of eugenics

Peter S. Harper, P. Harper, 2002, Human Genetics.

The woman who walked into the sea: Huntington’s and the making of a genetic disease

P. Harper, 2008, Human Genetics.

The epidemiology of Huntington's disease

P. Harper, 1992, Human Genetics.

A Short History Of Medical Genetics

P. Harper, 2008 .

Localization of rabbit huntingtin using a new panel of monoclonal antibodies.

P. Harper, S. Manilal, J. Neal, 1999, Brain research. Molecular brain research.

Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus.

C. L. Jackson, P. Harper, T. Glaser, 1988, Genomics.

C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (eds.), B. Childs, K.W. Kinzler, B. Vogelstein (associate eds.): Molecular and metabolic bases of inherited disease, 8th edition

P. Harper, 2002, Human Genetics.

Calcifying epithelioma of Malherbe. Association with myotonic muscular dystrophy.

P. Harper, 1972, Archives of dermatology.

Mendelian inheritance or transmissible agent? The lesson Kuru and the Australia antigen.

P. Harper, Peter S. Harper, Heath Park, 1977, Journal of medical genetics.

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

W. Reardon, D. Shaw, P. Harper, 1993, American journal of human genetics.

Ectro dactyly ectodermal dysplasia and cleft lip and palate syndrome

O. P. Gray, P. Harper, J. Swallow, 1973 .

George Otto Gey. (1899-1970). The HeLa cell and a reappraisal of its origin.

P. Harper, H. Jones, V. A. McKusick, 1971, Obstetrics and gynecology.

In vitro studies on calcium activated phosphatidylinositol phosphodiesterase of erythrocyte ghosts from normal individuals and those with myotonic muscular dystrophy.

P. Harper, A. Meredith, D. M. Bradley, 1982, Clinica chimica acta; international journal of clinical chemistry.

PRENATAL PREDICTION OF MYOTONIC DYSTROPHY

P. Harper, G. Pearce, J. Insley, 1976, The Lancet.

ABH secretor status of the fetus: a genetic marker identifiable by amniocentesis.

V. McKusick, P. Harper, W. Bias, 1971, Journal of medical genetics.

Clinical genetics in Britain: origins and development

P. Harper, H. Skirton, Julie Dee Bell, 2010 .

Paul Polani and the development of medical genetics

P. Harper, 2006, Human Genetics.

Orocraniodigital (Juberg-Hayward) syndrome with growth hormone deficiency

P. Harper, H. Kingston, I. Hughes, 1982, Archives of disease in childhood.

Chapter 24 – Genetic risks in cancer

P. Harper, 1988 .

Molecular analysis and clinical correlations of the Huntington's disease mutation

R. Snell, P. Harper, J. Cheadle, 1993, The Lancet.

Huntington disease: no evidence for locus heterogeneity.

S. Folstein, J. Haines, R. Tanzi, 1989, Genomics.

The problem of isolated cases of Huntington's disease in South Wales 1974–1984

P. Harper, O. Quarrell, P. Harper, 1986, Clinical genetics.

Incidence of Hunter's syndrome

P. Harper, I. Young, 2004, Human Genetics.

A clinical and genetic study of Hunter's syndrome. 2 Differences between the mild and severe forms

R. Newcombe, P. Harper, I. Young, 1982, Journal of medical genetics.

The discovery of the human chromosome number in Lund, 1955–1956

P. Harper, 2006, Human Genetics.

HISTORICAL & PERSONAL PERSPECTIVES

P. Harper, J. Bell, 2005 .

Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.

P. Harper, J. Yates, D. Baguley, 2000, American journal of human genetics.

Molecular genetics of neurofibromatosis type 1 (NF1).

P S Harper, P. Harper, M. Upadhyaya, 1996, Journal of medical genetics.

Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.

A. Clarke, P. Harper, N. Thomas, 1986, Journal of medical genetics.

Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis.

K. Marymee, A. Clarke, P. Harper, 1989, The Journal of pediatrics.

History of medical genetics

V. McKusick, P. Harper, 2013 .

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.

M. W. Thompson, M. Bobrow, P. Harper, 1988, Science.

Genetic testing, common diseases, and health service provision

P. Harper, PeterS. Harper, 1995, The Lancet.

Adult polycystic kidney disease and linked RFLPs at the alpha globin locus: a genetic study in the South Wales population.

P. Harper, F. Davies, G. Coles, 1987, Journal of medical genetics.

Isolating the gene for Duchenne muscular dystrophy.

P. Harper, 1986, British medical journal.

Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome.

P. Harper, P. Pearson, H. Kingston, 1983, Journal of medical genetics.

Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene

D. Shaw, P. Harper, M. Upadhyaya, 1994, Human mutation.

Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.

P. Harper, M. Upadhyaya, J. Maynard, 1996, American journal of medical genetics.

Molecular genetics and muscular dystrophy

P. Harper, 1988 .

Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy

K. Davies, R. Williamson, P. Harper, 1982, Nature.

Mutations in TITF-1 are associated with benign hereditary chorea.

B. D. de Vries, M. MacDonald, W. Arts, 2002, Human molecular genetics.

A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q.

M. Owen, P. Harper, M. Upadhyaya, 1991, Journal of medical genetics.

Genetic counselling in facioscapulohumeral muscular dystrophy.

P. Harper, P. Harper, P. Lunt, 1991, Journal of medical genetics.

Recorded interviews with human and medical geneticists

P. Harper, 2016, Human Genetics.

Spondylo-epiphyseal dysplasia tarda: a report of four cases in two families.

P. Harper, K. Laurence, P. Jenkins, 1973, The British journal of radiology.

Genetic testing and Huntington's disease: issues of employment

Y. Bombard, M. Hayden, P. Harper, 2004, The Lancet Neurology.

Presymptomatic testing in myotonic dystrophy: genetic counselling approaches

P. Harper, C. Evans, S. Fokstuen, 2001, Journal of medical genetics.

EFFECTIVE STRATEGY FOR PRENATAL PREDICTION OF DUCHENNE AND BECKER MUSCULAR DYSTROPHY

K. Davies, A. Read, P. Harper, 1987, The Lancet.

Molecular genetics as a diagnostic service.

P. Harper, 1989, Journal of medical genetics.

Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels.

P. Harper, M. Upadhyaya, M. Shen, 1993, Human molecular genetics.

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

F. Wright, M. Shriver, R. Moxley, 2003, American journal of human genetics.

Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.

R. Snell, D. Shaw, P. Harper, 1991, Journal of medical genetics.

Factors influencing age at onset and duration of survival in Huntington's chorea

D. A. Walker, R. Newcombe, P. Harper, 1981, Annals of human genetics.

Genetic Counselling: A Psychological Conversation

P. Harper, C. Evans, 2006 .

Cardiac disease in myotonic dystrophy.

P. Harper, M. F. Phillips, 1997, Cardiovascular research.

Huntington's disease

Peter S. Harper, P. Harper, 1991 .

TREATMENT OF FRIGIDITY

P. Harper, J. Glynn, 1961 .

Gene mapping and medical genetics.

P. Harper, 1985, Journal of medical genetics.

In the Name of Eugenics

P. Harper, 1987 .

Anal abnormalities in childhood myotonic dystrophy--a possible source of confusion in child sexual abuse.

W. Reardon, P. Harper, S. Green, 1992, Archives of disease in childhood.

An unusual form of familial acrocephalosyndactyly.

P. Harper, I. Young, 1982, Journal of medical genetics.

Promoting safe and effective genetic testing in the United States: Final Report of the Task Force on Genetic Testing.

P. Harper, Peter S Harper, 1998, Community genetics.

Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium

D. Craufurd, P. Harper, C. Lim, 2000, Journal of medical genetics.

Myotonic dystrophy: developments in molecular genetics.

D. Shaw, P. Harper, 1989, British medical bulletin.

Application of a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy.

D. Shaw, P. Harper, M. Sarfarazi, 1986, British medical journal.

FIRST-TRIMESTER PREDICTION IN FETUS AT RISK FOR MYOTONIC DYSTROPHY

P. Harper, A. Meredith, P. Lunt, 1986, The Lancet.

The genetic revolution and medicine in the 21st century

K. Davies, A. Clarke, P. Harper, 1997, European Review.

Predictive testing for Huntington's disease: II. Qualitative findings from a study of uptake in South Wales

P. Harper, J. Soldán, J. Binedell, 1998, Clinical genetics.

Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome.

P. Harper, L. Elsas, M. Sarfarazi, 1986, Journal of medical genetics.

Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.

S. Warren, S. Knight, M. Johnson, 1991, American journal of human genetics.

Five years experience of predictive testing for myotonic dystrophy using linked DNA markers.

W. Reardon, P. Harper, L. Lazarou, 1992, American journal of medical genetics.

Outlook for a clinically normal child in a sibship with congenital myotonic dystrophy.

R. Newcombe, P. Harper, T. O'brien, 1983, The Journal of pediatrics.

Reproductive problems and neonatal loss in women with myotonic dystrophy

P. Harper, T. O'brien, 1984 .

Morquio-Brailsford disease. A report of four affected sisters with absence of excessive keratan sulphate in the urine.

P. Harper, P. Jenkins, G. R. Davies, 1973, The British journal of radiology.

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

P. Harper, M. Rogers, J. Brook, 2002, Human molecular genetics.

Ethical and social issues in presymptomatic testing for Huntington's disease: a European Community collaborative study. European Community Huntington's Disease Collaborative Study Group.

P. Harper, M. Frontali, G. Evers‐Kiebooms, 1993, Journal of medical genetics.

99th ENMC international workshop: myotonic dystrophy: present management, future therapy 9–11 November 2001, Naarden, The Netherlands

B. Engelen, P. Harper, B. Eymard, 2002, Neuromuscular Disorders.

Congenital Defects Associated with Congenital Hypothyroidism

P. Harper, I. Hughes, J. Lazarus, 1989 .

DECLINE IN THE PREDICTED INCIDENCE OF HUNTINGTON'S CHOREA ASSOCIATED WITH SYSTEMATIC GENETIC COUNSELLING AND FAMILY SUPPORT

R. Newcombe, P. Harper, A. Tyler, 1981, The Lancet.

Practical genetic counselling

Peter S. Harper, P. Harper, 1981 .

Carrier detection in Hunter syndrome.

P. Harper, I. Young, F. Wusteman, 1983, American journal of medical genetics.

An improved assay for iduronate 2-sulphate sulphatase in serum and its use in the detection of carriers of the Hunter syndrome.

P. Harper, F. Wusteman, I. Archer, 1981, Clinica chimica acta; international journal of clinical chemistry.

Calcifying epithelioma of Malherbe and myotonic dystrophy in sisters.

P. Harper, 1971, Birth defects original article series.

Chapter 13 – Disorders of bone and connective tissue

P. Harper, 1988 .

A new DNA marker tightly linked to the fragile X locus (FRAXA).

K. Davies, P. Harper, D. Callen, 1989, Science.

Towards the finer mapping of facioscapulohumeral muscular dystrophy at 4q35: construction of a laser microdissection library.

P. Harper, M. Upadhyaya, J. Maynard, 1995, American journal of medical genetics.

Localisation of the gene for Hunter syndrome on the long arm of X chromosome

P. Harper, M. Upadhyaya, M. Sarfarazi, 1986, Human Genetics.

Chapter 7 – Carrier detection

P. Harper, 1988 .

CHORION BIOPSY FOR PRENATAL TESTING IN HUNTER'S SYNDROME

P. Harper, M. Upadhyaya, S. Bamforth, 1984, The Lancet.

Prenatal diagnosis of hunter syndrome

P. Harper, H. Kingston, I. Archer, 1984, Prenatal diagnosis.

A clinical and genetic study of Hunter's syndrome. 1 Heterogeneity

R. Newcombe, P. Harper, I. Young, 1982, Journal of medical genetics.

Detection of female carriers of hunter's syndrome: Comparison of serum and hair-root analysis

P. Harper, F. Wusteman, I. Archer, 1982, Journal of Inherited Metabolic Disease.

Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm.

P. Harper, M. Upadhyaya, M. Sarfarazi, 1989, Journal of medical genetics.

Some pioneers of European human genetics.

P. Harper, 2017, European journal of human genetics : EJHG.

Huntington's disease: prediction and prevention.

S. Youngman, P. Harper, O. Quarrell, 1988, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

Chapter 26 – Genetic counselling and society

P. Harper, 1988 .

Attitudes of subjects at risk and their relatives towards genetic counselling in Huntington's chorea.

P. Harper, A. Tyler, 1983, Journal of medical genetics.

The socioeconomic burden of Huntington's chorea in South Wales

D. A. Walker, R. Newcombe, P. Harper, 1982, Journal of Biosocial Science.

A genetic register forHuntington's chorea inSouth Wales

R. Newcombe, P. Harper, A. Tyler, 1982 .

HUNTINGTON'S CHOREA The Basis for Long-Term Prevention

D. A. Walker, R. Newcombe, P. Harper, 1979, The Lancet.

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

D. Shaw, P. Harper, J. Brook, 1991, American journal of human genetics.

Selection for presymptomatic testing for Huntington's disease: who decides?

P. Harper, J. Soldán, J. Binedell, 1996, Journal of medical genetics.

Psychological Model for Presymptomatic Test Interviews: Lessons Learned from Huntington Disease

P. Harper, E. Street, J. Gray, 2000, Journal of Genetic Counseling.

Linkage disequilibrium in Huntington's disease: an improved localisation for the gene.

R. Snell, S. Youngman, D. Shaw, 1989, Journal of medical genetics.

Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene.

P. Harper, A. Børresen, K. Berg, 1986, Clinical genetics.

CHAPTER 2 – Myotonic Dystrophies: An Overview

T. Ashizawa, P. Harper, 2006 .

New Genes for Old Diseases: The Molecular Basis of Myotonic Dystrophy and Huntington's Disease

P. Harper, 1996, Journal of the Royal College of Physicians of London.

Anticipation in myotonic dystrophy: new light on an old problem.

W. Reardon, D. Shaw, P. Harper, 1992, American journal of human genetics.

Mary Lyon and the hypothesis of random X chromosome inactivation

P. Harper, 2011, Human Genetics.

Unstable DNA sequence in myotonic dystrophy

W. Reardon, D. Shaw, P. Harper, 1992, The Lancet.

Special Problems of Genetic Counseling in Adult-Onset Diseases

P. Harper, J. Gray, J. Soldán, 1996 .

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.

P. Harper, M. Upadhyaya, J. Maynard, 1997, Journal of medical genetics.

A molecular approach to genetic counseling in the X-linked muscular dystrophies.

P. Harper, N. Thomas, 1986, American journal of medical genetics.

Molecular deletion analysis in Duchenne muscular dystrophy.

P. Harper, P. Ray, R. Worton, 1986, Journal of medical genetics.

Linkage relationships of the apolipoprotein C1 gene and a cytochrome P450 gene (CYP2A) to myotonic dystrophy

D. Shaw, P. Harper, M. Sarfarazi, 1990, Human Genetics.

Genetic linkage relationships between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy

K. Davies, R. Williamson, P. Harper, 2004, Human Genetics.

Genetic and Population Studies in Wales

E. Sunderland, P. Harper, R. Harvey, 1986 .

Chapter 21 – Endocrine disorders

P. Harper, 1988 .

Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe.

K. Davies, R. Williamson, P. Harper, 1983, Journal of medical genetics.

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17

E. Hoffman, P. Harper, F. Lehmann-Horn, 1991, Human Genetics.

Recessively inherited myotonia congenita.

P. Harper, D. M. Johnston, 1972, Journal of medical genetics.

The mendelian inheritance of a human X chromosome-specific DNA sequence polymorphism and its use in linkage studies of genetic disease

K. Davies, R. Williamson, P. Harper, 2004, Human Genetics.

The Evolution of Medical Genetics

P. Harper, 2019 .

Chapter 25 – Environmental hazards

P. Harper, 1988 .

PROPRANOLOL IN SCHIZOPHRENIA

P. Harper, A. P. Ridges, K. Lawton, 1977, The Lancet.

Huntington's disease: predictive testing and the molecular genetics laboratory

P. Harper, L. Lazarou, A. Meredith, 1993, Clinical genetics.

William Bateson, human genetics and medicine

P. Harper, 2005, Human Genetics.

A clinical andgenetic study ofHunter's syndrome. 1Heterogeneity

R. Newcombe, P. Harper, I. Young, 1982 .

Psychosocial problems in Hunter's syndrome.

P. Harper, I. Young, 1981, Child: care, health and development.

Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin.

J. M. Boutell, J. Duce, P. Harper, 1999, Human molecular genetics.

Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis.

P. Harper, M. Upadhyaya, J. Zonana, 1990, American journal of medical genetics.

Gene mapping and neurogenetics.

P. Harper, 1987, Journal of medical genetics.

Molecular structure of the number 21 chromosome and down syndrome (Ann. NY Acad. Sci. 450): edited by George F. Smith, New York Academy of Sciences, 1985. $55.00 (vii + 250 pages) ISBN 0 89766 295 4

P. Harper, 1986 .

Myotonic dystrophy: studies on the lipid composition and metabolism of erythrocytes and skin fibroblasts.

P. Harper, N. Thomas, 1978, Clinica chimica acta; international journal of clinical chemistry.

19 – Prediction and prevention in Huntington's disease

P. Harper, M. Morris, 1991 .

Severe hypercalcaemia from hyperthyroidism with unusual features.

P. Harper, R. Hughes, 1970, British medical journal.

Genetic linkage studies in Huntington's chorea

P. Harper, L. Went, A. Caro, 1980, Annals of human genetics.

X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization

A. Clarke, P. Harper, M. Sarfarazi, 1987, Human Genetics.

Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation.

P. Harper, J. Zonana, N. Thomas, 1988, Journal of medical genetics.

Huntington's disease: Psychiatric practice in molecular genetic prediction and diagnosis

P. Harper, J. Gray, J. Scourfield, 1997, British Journal of Psychiatry.

Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.

R. Snell, D. Shaw, P. Harper, 1993, Journal of medical genetics.

Studies of a DNA marker (G8) genetically linked to Huntington disease in British families

R. Tanzi, J. Gusella, S. Youngman, 1986, Human Genetics.

Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy

L. Kunkel, K. Davies, D. Shaw, 2004, Human Genetics.

Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences

P. Harper, H. Kingston, M. Sarfarazi, 2004, Human Genetics.

X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis.

K. Marymee, A. Clarke, P. Harper, 1988, American journal of human genetics.

Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families.

S. Youngman, D. Shaw, P. Harper, 1985, Journal of medical genetics.

Linkage analysis of a DNA polymorphism proximal to the Duchenne and Becker muscular dystrophy loci on the short arm of the X chromosome.

D. Shaw, P. Harper, P. Pearson, 1985, Journal of medical genetics.

DNA Polymorphisms and Fetal Sexing for X-Linked Disorders with Chorionic Biopsy

P. Harper, M. Upadhyaya, A. Roberts, 1985 .

Chapter 3 – Genetic counselling in non-mendelian disorders

P. Harper, 1988 .

A report on genetic registers. Based on the report of the Clinical Genetics Society Working Party.

P. Harper, A. Emery, R. Harris, 1978, Journal of medical genetics.

Mendelian inheritance or transmissible ag4 lesson of Kuru and the Australia antigen

P. Harper, 2022 .

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.

P. Harper, M. Upadhyaya, A. Fryer, 1990, Journal of medical genetics.

Neuropathological diagnosis and CAG repeat expansion in Huntington's disease.

R. Snell, J. Xuereb, P. Harper, 1996, Journal of neurology, neurosurgery, and psychiatry.

Genetic risks in Perthes' disease

P. Harper, D. Cochlin, Brian James Brotherton, 1976, Clinical genetics.

DNA markers associated with high versus low IQ: Ethical considerations

P. Harper, 1995, Behavior genetics.

Daytime somnolence in myotonic dystrophy

C. M. Wiles, P. Harper, M. F. Phillips, 1999, Journal of Neurology.

Becker muscular dystrophy: correlation of deletion type with clinical severity.

P. Harper, H. Kingston, N. Thomas, 1990, Journal of medical genetics.

Identification of new DNA markers close to the myotonic dystrophy locus.

D. Shaw, P. Harper, M. Siciliano, 1991, Journal of medical genetics.

Assessment of locomotor function in young boys with duchenne muscular dystrophy

R. Newcombe, P. Harper, J. Sibert, 1991 .

Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias.

P. Harper, D. Compston, P. Lunt, 1989, Journal of medical genetics.

A scapular onset muscular dystrophy without facial involvement: Possible allelism with facioscapulohumeral muscular dystrophy

P. Harper, M. Upadhyaya, J. Maynard, 1994, Neuromuscular Disorders.

Cloning of the α–adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification

D. Church, D. Housman, R. Snell, 1992, Nature Genetics.

DISTINCTION OF BECKER FROM LIMB-GIRDLE MUSCULAR DYSTROPHY BY MEANS OF DYSTROPHIN cDNA PROBES

P. Harper, J. Coakley, N. Thomas, 1989, The Lancet.

Clinical genetics in neurological disease.

P. Harper, C. Macmillan, J. MacMillan, 1994, Journal of neurology, neurosurgery, and psychiatry.

GENETIC DISORDERS IN GYPSIES

P. Harper, E. Williams, 1975, The Lancet.

Chapter 20 – Renal disease

P. Harper, 1988 .

Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.

E. Hoffman, P. Harper, F. Lehmann-Horn, 1991, Journal of medical genetics.

Partial characterisation of murine huntingtin and apparent variations in the subcellular localisation of huntingtin in human, mouse and rat brain.

P S Harper, P. Harper, P. Lowenstein, 1996, Human molecular genetics.

Huntingtin Interacts with Cystathionine β-Synthase

J. M. Boutell, P. Harper, J. Wood, 1998 .

Predictive testing for Huntington's disease: I. Predictors of uptake in South Wales

P. Harper, J. Soldán, J. Binedell, 1998, Clinical genetics.

Genomic organization and transcriptional units at the myotonic dystrophy locus.

A. Buckler, D. Shaw, P. Harper, 1993, Genomics.

Localisation of the myotonic dystrophy locus to 19q13.2–19q13.3 and its relationship to twelve polymorphic loci on 19q

D. Shaw, P. Harper, M. Koch, 2005, Human Genetics.

A study of DNA methylation in myotonic dystrophy.

D. Shaw, P. Harper, J. Brook, 1993, Journal of medical genetics.

Report of the delegation of clinical geneticists to China, Spring 1986.

P. Harper, R. Harris, N. Nevin, 1987, Biology and society : the journal of the Eugenics Society.

Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length

M. Owen, M. Krawczak, P. Kehoe, 1999, Journal of medical genetics.

Genetic markers in Welsh gypsies.

E. Sunderland, P. Harper, E. Williams, 1977, Journal of medical genetics.

Genetic Variation in Wales

P. Harper, 1976, Journal of the Royal College of Physicians of London.

ADOPTION AND GENETIC PREDICTION FOR HUNTINGTON'S DISEASE

P. Harper, M. Morris, A. Tyler, 1988, The Lancet.

Covariate-dependent age-at-onset distributions for Huntington disease.

M. Krawczak, P. Harper, I. Fenton, 1991, American journal of human genetics.

Human genetics in troubled times and places

P. Harper, 2017, Hereditas.

Absence of hearing impairment in adult onset facioscapulohumeral muscular dystrophy

Mark T Rogers, Dafydd Stephens, D. Stephens, 2002, Neuromuscular Disorders.

De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).

P. Harper, M. Koch, M. Upadhyaya, 1994, Archives of disease in childhood.

Phenotypic–genotypic correlation will assist genetic counseling in 4q35‐facioscapulohumeral muscular dystrophy

P. Harper, M. Upadhyaya, J. Maynard, 1995, Muscle & nerve. Supplement.

Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements.

C. Wijmenga, J. Farnham, P. Harper, 1993, Human molecular genetics.

A genetic linkage study of a kindred with X-linked retinitis pigmentosa.

M. Jay, A. Wright, S. Bhattacharya, 1985, The British journal of ophthalmology.

Genetic Heterogeneity in the Ichthyoses

P. Harper, 1978 .

Predictive DNA-testing for Huntington's disease and reproductive decision making: a European collaborative study

A. Dürr, P. Harper, C. Yapijakis, 2002, European Journal of Human Genetics.

Hypermobility of joints

Peter S. Harper, P. Harper, 1984 .

Myotonic dystrophy : present management, future therapy

P. Harper, 2004 .

A genetic linkage study of facioscapulohumeral (Landouzy-Déjérine) disease with 24 polymorphic DNA probes.

P. Harper, M. Upadhyaya, M. Sarfarazi, 1989, Journal of medical genetics.

Prenatal testing for Huntington's disease: a European collaborative study

A. Dürr, P. Harper, C. Yapijakis, 2002, European Journal of Human Genetics.

Genetic testing, life insurance, and adverse selection.

P. Harper, 1997, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

Melanism in the moth Gonodontis bidentata: A cline within the Merseyside conurbation

P. Harper, J. Bishop, 1970, Heredity.

Lack of sampling site variation in chorion villus biopsy as assessed by DNA, enzymatic, morphological and cytogenetical analyses

P. Harper, B. Jasani, M. Upadhyaya, 1987, Prenatal diagnosis.

Chorion villus sampling in X-linked genetic disorders

P. Harper, M. Upadhyaya, A. Roberts, 1987 .

Mustard gas casualties

D. Mitchell, P. Harper, J. Rees, 1991, The Lancet.

Huntington's disease predictive testing: the case for an assessment approach to requests from adolescents.

P. Harper, J. Scourfield, J. Soldán, 1996, Journal of medical genetics.

Evidence against location of the gene for facioscapulohumeral muscular dystrophy on the distal long arm of chromosome 14

P. Harper, M. Upadhyaya, M. Sarfarazi, 1988, Journal of the Neurological Sciences.

Naming of syndromes and unethical activities: the case of Hallervorden and Spatz

P. Harper, 1996, The Lancet.

Linkage analysis oftwodonedDNA sequences flanking theDuchenne muscular dystrophy locus on theshort armofthehumanX chromosome

K. Davies, R. Williamson, P. Harper, 1983 .

Huntington's disease: a clinical, genetic and molecular model for polyglutamine repeat disorders.

P. Harper, 1999, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

Letter: Prenatal prediction of myotonic dystrophy.

P. Harper, G. Bird, G. Pearce, 1976, Lancet.

Mixed Blessings from a Cambridge Union, Elizabeth N Anionwu

P. Harper, 2018, Human Genetics.

Chapter 2 – Genetic counselling in mendelian disorders

P. Harper, 1988 .

Translocation 5;21 and interstitial deletion of chromosome 7 in a case of chronic myelomonocytic leukemia.

P. Harper, P. Sherrington, E. Nacheva, 1988, Cancer genetics and cytogenetics.

The case against

P. Harper, PETER S. HARPER, 1991, Nature.

Huntington disease: Advances in molecular and cell biology

P. Harper, J. Wood, A. L. Jones, 1997, Journal of Inherited Metabolic Disease.

Prenatal testing for Huntington's disease: experience within the UK 1994-1998

P. Harper, S. Simpson, 2001, Journal of medical genetics.

Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.

D. Shaw, P. Harper, M. Sarfarazi, 1986, Journal of medical genetics.

Genetics and public health.

P. Harper, 1992, BMJ.

PRENATAL DIAGNOSIS OF DUCHENNE DYSTROPHY

HywelC. Williams, P. Harper, M. Sarfarazi, 1985, The Lancet.

Chromosome 17 markers and von Recklinghausen neurofibromatosis: a genetic linkage study in a British population.

P. Harper, M. Upadhyaya, K. Stephens, 1987, Genomics.

Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.

P. Harper, P. Dykes, R. Marks, 1980, Journal of medical genetics.

An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation.

P. Harper, H. Kingston, P. Jones, 1982, Journal of medical genetics.

The human genome project and medical genetics.

P. Harper, 1992, Journal of medical genetics.

The Genetic Basis of Common Diseases

P. Harper, 1994 .

A specific mutation for Huntington's disease.

P. Harper, 1993, Journal of medical genetics.

Further exclusion data for the Von Recklinghausen neurofibromatosis gene: a genetic linkage study of 19 polymorphic markers.

P. Harper, M. Upadhyaya, M. Sarfarazi, 1987, Journal of medical genetics.

Predictive testing for Huntington's disease.

P. Harper, M. Morris, 1989, BMJ.

Duchenne muscular dystrophy in Wales: impact of DNA linkage analysis and cDNA deletion screening.

P. Harper, M. Upadhyaya, N. Thomas, 1989, Journal of medical genetics.

The use of flanking markers in prediction for Duchenne muscular dystrophy.

P. Harper, M. Sarfarazi, N. Thomas, 1986, Archives of disease in childhood.

Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait.

M. Dubé, G. Ebers, M. Farlow, 1997, American journal of human genetics.

Genetic Testing Considerations in Breast Cancer Patients

G. Elwyn, A. Clarke, P. Harper, 1999, Journal of Genetic Counseling.

Presymptomatic testing for Huntington's disease: a world wide survey. The World Federation of Neurology Research Group on Huntington's Disease.

P. Harper, 1993, Journal of medical genetics.

(Mis)alignments in Counseling for Huntington’s Disease Predictive Testing: Clients’ Responses to Reflective Frames

A. Clarke, P. Harper, S. Sarangi, 2005, Journal of Genetic Counseling.

Initiation of Reflective Frames in Counseling for Huntingtons Disease Predictive Testing

A. Clarke, P. Harper, S. Sarangi, 2004, Journal of Genetic Counseling.

Bayes’ rule, medical genetics and the wider world. A review of: the theory that would not die. How Bayes’ rule cracked the Enigma code, hunted down Russian submarines, and emerged triumphant from two centuries of controversy: by Sharon Bertsch McGrayne

P. Harper, 2013, Human Genetics.

Pre‐symptomatic detection and genetic counselling in myotonic dystrophy

P. Harper, 1973, Clinical genetics.

A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?

D. Evans, P. Harper, J. Neal, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

Principles and Practice of Medical Genetics

P. Harper, 1985 .

Human Molecular Genetics and the Human Genome Project

Peter S. Harper, P. Harper, 2008 .

Trinucleotide repeat disorders

P. Harper, 1997, Journal of Inherited Metabolic Disease.

Reply to Poulton

P. Harper, H. Harley, M. Koch, 1992 .

DNA Probes

P. Harper, M. Upadhyaya, M. Sarfarazi, 2020, Definitions.

The Frequency of Inherited Disorders Database

D. Cooper, M. Krawczak, P. Harper, 2000, Human Genetics.

Abstracts of workshop presentations pp. 1075-1091

R. L. Miller, D. Cox, D. Ledbetter, 1989 .

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy.

C. Junien, H. Brunner, T. Ashizawa, 1994, American journal of human genetics.

Report of the committee on clinical disorders and chromosomal deletion syndromes.

M. Ferguson-Smith, P. Harper, J. Frézal, 1988, Cytogenetics and cell genetics.

Chapter 19 – The gastrointestinal tract

P. Harper, 1988 .

Mortality from leukaemia among relatives of patients with cystic fibrosis.

R. West, P. Harper, L. Al-Jader, 1989, BMJ.

Books also Received

P. Harper, J. Bettinger, M. Guay, 1976, Medicina e historia.

Human genetics in troubled times and places

P. Harper, 2017, Hereditas.

The delivery of genetic counseling services in Europe

I. Emerit, F. Vogel, A. Czeizel, 2004, Human Genetics.

Lysenko and Russian genetics: Reply to Wang & Liu

P. Harper, 2017, European Journal of Human Genetics.

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

M. Pericak-Vance, M. Spence, R. Martuza, 1987, Cell.

A regional register for inherited cancers.

P. Harper, M. Littler, 1989, BMJ.

History of Human Genetics

P. Harper, H. Petermann, Susanne Doetz, 2017 .

An overview of prenatal testing for Huntington’s disease in six European countries

A. Durr, P. Harper, C. Yapijakis, 2002 .

A randomized trial of specialist genetic assessment: psychological impact on women at different levels of familial breast cancer risk

R. Mansel, P. Harper, P. Norman, 2002, British Journal of Cancer.

Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium.

M. Pericak-Vance, C. Wijmenga, K. Mathews, 1992, American journal of human genetics.

Presymptomatic testing in myotonic dystrophy: genetic counselling approaches

P. Harper, C. Evans, S. Fokstuen, 2001 .

Abstracts of workshop presentations pp. 1057-1074

R. L. Miller, D. Cox, D. Ledbetter, 1989 .

PROBLEMS IN GENETIC PREDICTION FOR HUNTINGTON'S DISEASE

P. Harper, L. Lazarou, M. Morris, 1989, The Lancet.

DNA prediction in cystic fibrosis.

P. Harper, 1986, Journal of Medical Genetics.

Abstracts of workshop presentations pp. 1023-1039

R. L. Miller, D. Cox, D. Ledbetter, 1989 .

Severity of chest disease in cystic fibrosis patients in relation to their genotypes.

G. Owen, P. Harper, J. Cheadle, 1992, Journal of medical genetics.

Molecular diagnostic analysis for Huntington's disease: a prospective evaluation.

P. Harper, J. MacMillan, P. Davies, 1995, Journal of neurology, neurosurgery, and psychiatry.

Direct marketing of cystic fibrosis carrier screening: commercial push or population need?

P. Harper, 1995, Journal of medical genetics.

peripheral blood lymphocyte RNA. Amplification of the total coding sequence of the NF1 gene from

P. Harper, M. Upadhyaya, M. Shen, 2012 .

Victor McKusick and the History of Medical Genetics

P. Harper, 2012 .

Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12

J. Farnham, A. Clarke, P. Harper, 1993, Human Genetics.

Human Gene Mapping 11. The Eleventh International Workshop on Human Gene Mapping

P. Harper, 1993 .

Chapter 9 – Special problems in genetic counselling

P. Harper, 1988 .

Aetiology of peripheral atherosclerosis.

F. Fowkes, P. Harper, 1989, BMJ.

Evidence fromastudy ofobligatory carriers andmothers ofisolated cases

R. Newcombe, P. Harper, J. Sibert, 2011 .

Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.

P. Harper, D. Phillips, A. Clarke, 1987, Archives of disease in childhood.

Assessment of locomotor function in young boys with Duchenne muscular dystrophy.

R. Newcombe, P. Harper, J. Sibert, 1991, Muscle & nerve.

Genetic linkage between the loci for myotonic dystrophy and peptidase D

P. Harper, M. Sarfarazi, T. O'brien, 1983, Annals of human genetics.

Insurance and genetic testing

P. Harper, 1993, The Lancet.

BEHAVIOUR THERAPY IN TRANSVESTISM

P. Harper, J. Glynn, L. Shirlaw, 1961 .

Olby, Robert (2009): Francis Crick. Hunter of Life’s Secrets

P. Harper, 2010, Human Genetics.

ABH secretor status of the fetus: a genetic marker identifiable by amniocentesis.

V. McKusick, P. Harper, W. Bias, 1971, Journal of medical genetics.

Familial gonadal tumours.

P. Harper, D. Pilz, M. Tischkowitz, 1998, Journal of medical genetics.

Wagner-Stickler syndrome. gene in a family with Exclusion of COL2A1 as a candidate

P. Harper, M. Upadhyaya, A. Fryer, 2009 .

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

J. Allanson, P. Harper, M. Upadhyaya, 1991, Journal of medical genetics.

Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.

D. Shaw, P. Harper, M. Sarfarazi, 1986, Journal of medical genetics.

Mild form of Hunter's syndrome: clinical delineation based on 31 cases.

P. Harper, I. Young, 1982, Archives of disease in childhood.

Presymptomatic testing for Huntington's disease: a world wide survey. The World Federation of Neurology Research Group on Huntington's Disease.

P. Harper, 1993, Journal of medical genetics.