John J. O'Sullivan

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BACKGROUND Although severe T cell immunodeficiency in DiGeorge anomaly is rare, previous studies of humoral function in these patients have found no antibody abnormalities but have not examined the response to polysaccharide antigens. Isolated cases of autoimmunity have been reported. Several patients with 22q11.2 deletion attending our immunology clinic(More)
We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 controls. A region on chromosome 12q24 was associated (P = 1.4 × 10(-7)) and replicated convincingly (P = 3.9 × 10(-5)) in 798 cases and 2931 controls [per allele odds ratio (OR) =(More)
OBJECTIVE To predict the growth in demand for long term follow up of adults with congenital heart disease. DESIGN Observed diagnoses of congenital heart disease in infancy and childhood were adjusted for observed infant survival, predicted further survival to age 16 years, underascertainment in older childhood, and predicted need for long term follow up.(More)
OBJECTIVE To assess the accuracy of parental recall of birth weight in a British population and to investigate whether social class and age of the child significantly influence the accuracy of recalled birth weight. METHODS A questionnaire was given to parents whose children were participating in a blood pressure study and the hospital records were(More)
Ambulatory blood pressure monitoring (ABPM) in adults is proving to be useful. The aim of this study was to determine if ABPM is accurate in the lower blood pressure range encountered in children and, equally important, whether it is acceptable to children. Thirty one children, between the ages of 6 and 18 years, were assessed using an ambulatory blood(More)
OBJECTIVE To define the range and variability of ambulatory blood pressure in normal schoolchildren. DESIGN Prospective study. METHODS Resting blood pressure of 1121 schoolchildren from Newcastle upon Tyne was recorded. An ambulatory blood pressure device, which uses both auscultatory (Korotkoff) and oscillometric methods of blood pressure measurement,(More)
BACKGROUND Tetralogy of Fallot (TOF) is the commonest cyanotic form of congenital heart disease. In 80% of cases, TOF behaves as a complex genetic condition exhibiting significant heritability. As yet, no common genetic variants influencing TOF risk have been robustly identified. METHODS AND RESULTS Two hundred and seven haplotype-tagging single(More)
BACKGROUND Tetralogy of Fallot (TOF) is common in individuals with hemizygous deletions of chromosome 22q11.2 that remove the cardiac transcription factor TBX1. OBJECTIVE To assess the contribution of common and rare TBX1 genetic variants to TOF. DESIGN Rare TBX1 variants were sought by resequencing coding exons and splice-site boundaries. Common TBX1(More)