Published in Eur J Hum Genet on May 26, 2010
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The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing. Genet Med (2007) 1.74
Predicting language outcomes at 4 years of age: findings from Early Language in Victoria Study. Pediatrics (2010) 1.69
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Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet (2010) 1.50
Screening couples for cystic fibrosis carrier status: why are we waiting? Med J Aust (2005) 1.49
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Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biol (2011) 1.38
Carrier screening for beta-thalassaemia: a review of international practice. Eur J Hum Genet (2010) 1.35
Adverse associations of sleep problems in Australian preschoolers: national population study. Pediatrics (2007) 1.35
4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet (2009) 1.30
Availability and structure of primary medical care services and population health and health care indicators in England. BMC Health Serv Res (2004) 1.30
A parent-focused intervention to reduce infant obesity risk behaviors: a randomized trial. Pediatrics (2013) 1.26
Disclosing genetic research results after death of pediatric patients. JAMA (2008) 1.26
Bullying among doctors in training: cross sectional questionnaire survey. BMJ (2004) 1.26
Predicting language at 2 years of age: a prospective community study. Pediatrics (2007) 1.25
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet (2014) 1.25
Educating genetic counselors in Australia: developing an international perspective. J Genet Couns (2005) 1.18
Adverse obstetric and perinatal outcomes in subfertile women conceiving without assisted reproductive technologies. Fertil Steril (2010) 1.18
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Slight/mild sensorineural hearing loss in children. Pediatrics (2006) 1.17
An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice. Eur J Hum Genet (2012) 1.17
Promoting patient participation in consultations: a randomised controlled trial to evaluate the effectiveness of three patient-focused interventions. Patient Educ Couns (2004) 1.16
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Decline in physical fitness from childhood to adulthood associated with increased obesity and insulin resistance in adults. Diabetes Care (2008) 1.13
Patients' attitudes to medicines and expectations for prescriptions. Health Expect (2002) 1.13
Outcomes of a universal shared reading intervention by 2 years of age: the Let's Read trial. Pediatrics (2011) 1.11
Relationship between symptoms of attention-deficit/hyperactivity disorder and family functioning: a community-based study. Eur J Pediatr (2011) 1.11
Prevalence of parent-reported ASD and ADHD in the UK: findings from the Millennium Cohort Study. J Autism Dev Disord (2014) 1.11
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat (2013) 1.09
Chromosome size and origin as determinants of the level of CENP-A incorporation into human centromeres. Chromosome Res (2004) 1.09
Using a competence framework to select future medical specialists. Hosp Med (2002) 1.08
Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat Genet (2011) 1.07
Risk factors for childhood mental health symptoms: national longitudinal study of Australian children. Pediatrics (2011) 1.07
Smoking is associated with progressive disease course and increased progression in clinical disability in a prospective cohort of people with multiple sclerosis. J Neurol (2009) 1.04
Factors affecting the stability of blood lipid and lipoprotein levels from youth to adulthood: evidence from the Childhood Determinants of Adult Health Study. Arch Pediatr Adolesc Med (2011) 1.01
Multimedia messages in genetics: design, development, and evaluation of a computer-based instructional resource for secondary school students in a Tay Sachs disease carrier screening program. Genet Med (2004) 1.00
Growth of infant communication between 8 and 12 months: a population study. J Paediatr Child Health (2006) 1.00
Effectiveness of the Mindfulness in Schools Programme: non-randomised controlled feasibility study. Br J Psychiatry (2013) 0.99
Sixty-five years since the New York heat wave: advances in sweat testing for cystic fibrosis. Pediatr Pulmonol (2013) 0.99
Recurrence risk in Autism Spectrum Disorder: a study of parental knowledge. J Paediatr Child Health (2007) 0.99
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. Hum Mutat (2011) 0.99
A model for the development of genetics education programs for health professionals. Genet Med (2007) 0.98
Predicting stuttering onset by the age of 3 years: a prospective, community cohort study. Pediatrics (2009) 0.97
Prevalence, associated factors, and comorbid conditions for Ménière's disease. Ear Hear (2014) 0.96
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. PLoS One (2010) 0.95
Uptake of prenatal diagnostic testing and the effectiveness of prenatal screening for Down syndrome. Prenat Diagn (2010) 0.95
Tay Sachs disease carrier screening in schools: educational alternatives and cheekbrush sampling. Genet Med (2005) 0.95
FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles. J Mol Diagn (2011) 0.94
Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome? Am J Med Genet A (2007) 0.94
Phenotypic variability of distal 22q11.2 copy number abnormalities. Am J Med Genet A (2011) 0.93
Objectively measured physical activity, cardiorespiratory fitness and cardiometabolic risk factors in the Health Survey for England. Prev Med (2013) 0.91
'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening. Eur J Hum Genet (2007) 0.91
Further clinical and molecular delineation of the 15q24 microdeletion syndrome. J Med Genet (2011) 0.91
The Children's Attention Project: a community-based longitudinal study of children with ADHD and non-ADHD controls. BMC Psychiatry (2013) 0.90
Health first, genetics second: exploring families' experiences of communicating genetic information. Eur J Hum Genet (2008) 0.90
Ethical considerations in choosing a model for population-based cystic fibrosis carrier screening. Med J Aust (2010) 0.90
Questionable pathogenicity of FOXG1 duplication. Eur J Hum Genet (2012) 0.90
Increased risk of blastogenesis birth defects, arising in the first 4 weeks of pregnancy, after assisted reproductive technologies. Hum Reprod (2009) 0.90
Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study. Clin Chem (2012) 0.90
Effectiveness of mealtime interventions on nutritional outcomes for the elderly living in residential care: a systematic review and meta-analysis. Ageing Res Rev (2013) 0.89
The impact of school tobacco policies on student smoking in Washington State, United States and Victoria, Australia. Int J Environ Res Public Health (2010) 0.89
Using simulated patients to develop doctors' skills in facilitating behaviour change: addressing childhood obesity. Med Educ (2010) 0.89
"It's something I need to consider": decisions about carrier screening for fragile X syndrome in a population of non-pregnant women. Am J Med Genet A (2009) 0.88
New directions in childhood obesity research: how a comprehensive biorepository will allow better prediction of outcomes. BMC Med Res Methodol (2010) 0.88
Does an intervention that improves infant sleep also improve overweight at age 6? Follow-up of a randomised trial. Arch Dis Child (2011) 0.88
Genetic health professionals and the communication of genetic information in families: Practice during and after a genetic consultation. Am J Med Genet A (2010) 0.88
Medical students' views about Modernising Medical Careers: a questionnaire survey of London students. Hosp Med (2004) 0.88
Trainees' attitudes to shift work depend on grade and specialty. BMJ (2003) 0.88
"It's about having the choice": stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome. Am J Med Genet A (2012) 0.87
Multiple component interventions for preventing falls and fall-related injuries among older people: systematic review and meta-analysis. BMC Geriatr (2014) 0.87
Translational research to prevent internalizing problems early in childhood. Depress Anxiety (2011) 0.87
An audit of clinical service examining the uptake of genetic testing by at-risk family members. Genet Med (2012) 0.87
Supporting teachers and children in schools: the effectiveness and cost-effectiveness of the Incredible Years teacher classroom management programme in primary school children: a cluster randomised controlled trial, with parallel economic and process evaluations. BMC Public Health (2012) 0.86
The Devon Active Villages Evaluation (DAVE) trial: study protocol of a stepped wedge cluster randomised trial of a community-level physical activity intervention in rural southwest England. BMC Public Health (2012) 0.86
Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers. Am J Med Genet B Neuropsychiatr Genet (2013) 0.86
Physical activity and 3-year BMI change in overweight and obese children. Pediatrics (2013) 0.86
Ethnic inequalities in time to diagnosis of cancer: a systematic review. BMC Fam Pract (2013) 0.86