Published in J Med Genet on August 01, 2001
Disclosure of APOE genotype for risk of Alzheimer's disease. N Engl J Med (2009) 6.43
All in the family: disclosure of "unwanted" information to an adolescent to benefit a relative. Am J Med Genet A (2008) 1.44
Characterizing Participants in the ClinSeq Genome Sequencing Cohort as Early Adopters of a New Health Technology. PLoS One (2015) 1.23
From genetic counseling to "genomic counseling". Mol Genet Genomic Med (2013) 1.19
Living with genetic risk: effect on adolescent self-concept. Am J Med Genet C Semin Med Genet (2008) 1.04
Predictive genetic testing: high risk expectations in the face of low risk information. J Behav Med (2002) 1.04
Hopefulness predicts resilience after hereditary colorectal cancer genetic testing: a prospective outcome trajectories study. BMC Cancer (2010) 1.03
Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group. Genet Med (2014) 1.01
Comparing test-specific distress of susceptibility versus deterministic genetic testing for Alzheimer's disease. Alzheimers Dement (2008) 1.00
Translating personalized medicine using new genetic technologies in clinical practice: the ethical issues. Per Med (2014) 0.98
The PPAR alpha gene is associated with triglyceride, low-density cholesterol and inflammation marker response to fenofibrate intervention: the GOLDN study. Pharmacogenomics J (2012) 0.91
Experience, knowledge, and opinions about childhood genetic testing in Batten disease. Mol Genet Metab (2013) 0.87
The psychological impact of genetic information on children: a systematic review. Genet Med (2016) 0.84
The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis. Fam Cancer (2009) 0.84
Childhood predictive genetic testing for Li-Fraumeni syndrome. Fam Cancer (2009) 0.81
A qualitative study exploring genetic counsellors' experiences of counselling children. Eur J Hum Genet (2010) 0.81
Research issues in genetic testing of adolescents for obesity. Nutr Rev (2004) 0.81
Parental attitudes, beliefs, and perceptions about genetic testing for FAP and colorectal cancer surveillance in minors. J Genet Couns (2010) 0.81
Health behaviors in patients and families with hereditary colorectal cancer. Clin Colon Rectal Surg (2012) 0.80
The FAP self-concept scale (adult form). Fam Cancer (2008) 0.80
Predictive genetic testing in children: where are we now? An overview and a UK perspective. Fam Cancer (2010) 0.77
Medical ethics for the genome world: a paper from the 2007 William Beaumont hospital symposium on molecular pathology. J Mol Diagn (2008) 0.77
Could triaging family history of cancer during palliative care enable earlier genetic counseling intervention? J Palliat Med (2013) 0.77
Methodology in longitudinal studies on psychological effects of predictive DNA testing: a review. J Med Genet (2004) 0.75
Exploring psychological responses to genetic testing for Lynch Syndrome within the family context. Psychooncology (2014) 0.75
Cancers related to genetic mutations: important psychosocial issues for Canadian family physicians. Can Fam Physician (2006) 0.75
How harmful is genetic testing for familial adenomatous polyposis (FAP) in young children; the parents' experience. Fam Cancer (2014) 0.75
Familial adenomatous polyposis in pediatrics: natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing debate. Fam Cancer (2016) 0.75
Genetic testing of children for familial cancers: a comparative legal perspective on consent, communication of information and confidentiality. Fam Cancer (2009) 0.75
The hospital anxiety and depression scale. Acta Psychiatr Scand (1983) 121.58
Impact of Event Scale: a measure of subjective stress. Psychosom Med (1979) 21.82
The development of a six-item short-form of the state scale of the Spielberger State-Trait Anxiety Inventory (STAI). Br J Clin Psychol (1992) 10.83
Optimism, coping, and health: assessment and implications of generalized outcome expectancies. Health Psychol (1985) 9.79
Genetic testing for children and adolescents. Who decides? JAMA (1994) 4.64
The new genetics. Psychological responses to genetic testing. BMJ (1998) 2.71
Unrealistic optimism about susceptibility to health problems. J Behav Med (1982) 2.47
Psychological consequences of predictive genetic testing: a systematic review. Eur J Hum Genet (2000) 2.18
Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. J Med Genet (1996) 1.84
Parents' responses to predictive genetic testing in their children: report of a single case study. J Med Genet (1996) 1.83
Risk-perception: differences between adolescents and adults. Health Psychol (1995) 1.76
Psychological responses to BRCA1 mutation testing: preliminary findings. Health Psychol (1997) 1.46
Adolescent (in)vulnerability. Am Psychol (1993) 1.44
The Health Orientation Scale: a measure of feelings about sickle cell trait. Soc Biol (1989) 1.21
Can children and young people consent to be tested for adult onset genetic disorders? BMJ (1999) 1.19
Psychological minimization of cholesterol test results: moderators of appraisal in college students and community residents. Health Psychol (1993) 1.15
Genetic testing for cancer in children. Short-term psychological effect. Arch Pediatr Adolesc Med (1996) 0.98
Effects of reviewing risk-relevant behavior on perceived vulnerability among women marines. Health Psychol (1991) 0.90
Laboratory policies and practices for the genetic testing of children: a survey of the Helix network. Am J Hum Genet (1997) 0.89
Commentary: weighing burdens and benefits rather than competence. BMJ (1999) 0.81
The Multicentre Aneurysm Screening Study (MASS) into the effect of abdominal aortic aneurysm screening on mortality in men: a randomised controlled trial. Lancet (2002) 10.52
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature (1993) 7.39
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet (2004) 5.76
Will genetics revolutionize medicine? N Engl J Med (2000) 5.41
Inability of trained nurses to perform basic life support. Br Med J (Clin Res Ed) (1987) 5.08
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Down's syndrome births and pregnancy terminations in 1989 to 1993: preliminary findings. Br J Obstet Gynaecol (1995) 3.93
Technique for identifying Y chromosomes in human interphase nuclei. Nature (1970) 3.64
Uptake of cystic fibrosis testing in primary care: supply push or demand pull? BMJ (1993) 3.47
A deletion hot spot in the Duchenne muscular dystrophy gene. Genomics (1988) 3.18
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. J Med Genet (2004) 2.83
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science (1988) 2.82
Informed consent to undergo serum screening for Down's syndrome: the gap between policy and practice. BMJ (1994) 2.65
Psychological impact of predicting individuals' risks of illness: a systematic review. Soc Sci Med (1999) 2.63
Amniotic-fluid acetylcholinesterase as a possible diagnostic test for neural-tube defects in early pregnancy. Lancet (1979) 2.42
The new genetics. Implications for clinical services in Britain and the United States. BMJ (1998) 2.30
The beta2-microglobulin gene is on chromosome 15 and not in the HL-A region. Nature (1975) 2.29
Differential staining of human and mouse chromosomes in interspecific cell hybrids. Nature (1974) 2.28
Analysis of national register of Down's syndrome in England and Wales: trends in prenatal diagnosis, 1989-91. BMJ (1993) 2.21
Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome. Lancet (1993) 2.20
Results of first year (1989) of a national register of Down's syndrome in England and Wales. BMJ (1991) 2.07
Antenatal screening in Oxford for fetal neural tube defects. Br J Obstet Gynaecol (1979) 2.06
Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening. BMJ (1995) 2.06
Two cases of X/autosome translocation in females with incontinentia pigmenti. Hum Genet (1985) 2.05
Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease. J Med Genet (2007) 1.97
Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9. Nat New Biol (1972) 1.91
Psychological consequences of screening for Down's syndrome. BMJ (1993) 1.87
Will genetic testing for predisposition for disease result in fatalism? A qualitative study of parents responses to neonatal screening for familial hypercholesterolaemia. Soc Sci Med (1999) 1.83
Parents' responses to predictive genetic testing in their children: report of a single case study. J Med Genet (1996) 1.83
Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring. J Med Genet (1975) 1.81
Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. UK Cystic Fibrosis Follow-Up Study Group. Lancet (1996) 1.79
Definitive evidence for the short arm of the Y chromosome associating with the X chromosome during miosis in the human male. Nature (1970) 1.78
Is recruitment more difficult with a placebo arm in randomised controlled trials? A quasirandomised, interview based study. BMJ (1999) 1.76
Genetics of classic Alport's syndrome. Lancet (1988) 1.73
Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J Med Genet (2005) 1.63
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet (1996) 1.55
Prenatal testing for Duchenne and Becker muscular dystrophy. Lancet (1988) 1.54
Screening for Down's syndrome. BMJ (1988) 1.48
A method for generating hybrids containing nonselected fragments of human chromosomes. Genomics (1989) 1.47
Point mutations in the dystrophin gene. Proc Natl Acad Sci U S A (1992) 1.46
Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13. Ann Hum Genet (1975) 1.45
Exon structure of the human dystrophin gene. Genomics (1993) 1.45
Human gene mapping using an X/autosome translocation. Somatic Cell Genet (1976) 1.44
Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA. Lancet (1991) 1.44
The GRAIDS Trial: a cluster randomised controlled trial of computer decision support for the management of familial cancer risk in primary care. Br J Cancer (2007) 1.43
Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet (1991) 1.41
The genetic testing of children. J Med Genet (1994) 1.41
Abnormal chromosome complement after normal amniocentesis result. Lancet (1992) 1.40
Objectives of genetic counselling: differing views of purchasers, providers and users. J Public Health Med (1998) 1.38
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum Mutat (1994) 1.36
Effect of purified luteinizing hormone releasing factor on normal and hypogonadotrophic anosmic men. Nature (1971) 1.36
Detection of novel genetic markers by mismatch analysis. Nucleic Acids Res (1989) 1.36
Lack of knowledge in health professionals: a barrier to providing information to patients? Qual Health Care (1994) 1.35
Genetic counselling: the psychological impact of meeting patients' expectations. J Med Genet (1997) 1.33
Nondirectiveness in genetic counseling: an empirical study. Am J Hum Genet (1997) 1.32
Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene. Genomics (1990) 1.31
Generation of novel sequence tagged sites (STSs) from discrete chromosomal regions using Alu-PCR. Genomics (1991) 1.31
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. J Med Genet (1989) 1.30
The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE. Hum Mol Genet (1993) 1.29
The impact of learning of a genetic predisposition to nicotine dependence: an analogue study. Tob Control (2003) 1.29
Evidence for the assignment of the loci AK1, AK3 and ACONs to chromosome 9 in man. Ann Hum Genet (1976) 1.29
The impact of population based screening for carriers of cystic fibrosis. J Med Genet (1994) 1.27
Numbers or words? A randomized controlled trial of presenting screen negative results to pregnant women. Prenat Diagn (2000) 1.26
Assignment of the human locus determining phosphoglycolate phosphatase (PGP) to chromosome 16. Ann Hum Genet (1980) 1.26
Antenatal screening for haemoglobinopathies in primary care: a cohort study and cluster randomised trial to inform a simulation model. The Screening for Haemoglobinopathies in First Trimester (SHIFT) trial. Health Technol Assess (2010) 1.26
The psychological impact of human papillomavirus testing in women with borderline or mildly dyskaryotic cervical smear test results: 6-month follow-up. Br J Cancer (2005) 1.26
A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods. J Med Genet (1991) 1.23
Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion. Hum Genet (1987) 1.23
A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. Am J Med Genet (1986) 1.22
What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study. BMJ (2001) 1.21
Screening, ethics and the law. BMJ (1992) 1.21
Duplication-deficiency product of a pericentric inversion in man: a cause of D 1 trisomy syndrome. J Pediatr (1973) 1.20
Counselling following diagnosis of a fetal abnormality: the differing approaches of obstetricians, clinical geneticists, and genetic nurses. J Med Genet (1994) 1.20
Fertility in a male with trisomy 21. J Med Genet (1989) 1.20
Sister chromatid exchanges--a sensitive assay of agents damaging human chromosomes. Mutat Res (1975) 1.18
Psychological costs of inadequate cervical smear test results. Br J Cancer (2004) 1.15
Psychological consequences for parents of false negative results on prenatal screening for Down's syndrome: retrospective interview study. BMJ (2000) 1.15
Monitoring trends in prenatal diagnosis of Down's syndrome in England and Wales, 1989-92. J Med Screen (1994) 1.15
Impact of genetic testing on causal models of heart disease and arthritis: An analogue study. Psychol Health (2000) 1.15
DNA deletions in mild and severe Becker muscular dystrophy. Hum Genet (1987) 1.14
Prenatal diagnosis by array-CGH. Eur J Med Genet (2005) 1.11
A multiple injection regimen using an insulin injection pen and pre-filled cartridged soluble human insulin in adolescents with diabetes. Diabet Med (1985) 1.11
The search for a human equivalent of the mouse T-locus - negative results from a study of HL-A types in spina bifida. Tissue Antigens (1975) 1.10
Structural variation in chromosome No 9. Ann Genet (1974) 1.10
Confirmation and further regional assignment of aminoacylase 1 (acy-1) on human chromosome 3 using a simplified detection method. Ann Hum Genet (1980) 1.10
Interventions to increase self-efficacy in the context of addiction behaviours: a systematic literature review. J Health Psychol (2008) 1.09
The future of genetic counselling: an international perspective. Nat Genet (1999) 1.09
The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter. Hum Mol Genet (1994) 1.09
A complex chromosomal rearrangement with formation of a ring 4. J Med Genet (1971) 1.08
Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR. Genomics (1992) 1.08
Ring-1 chromosome, microcephalic dwarfism, and acute myeloid leukemia. Am J Dis Child (1973) 1.08
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy. Br Med Bull (1989) 1.06
Breast screening: GPs' beliefs, attitudes and practices. Fam Pract (1999) 1.05
Localization of the gene for classic Alport syndrome. Genomics (1989) 1.05