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Idiopathic generalized epilepsy (IGE) is a complex disease with high heritability, but little is known about its genetic architecture. Rare copy-number variants have been found to explain nearly 3% of individuals with IGE; however, it remains unclear whether variants with moderate effect size and frequencies below what are reliably detected with genome-wide(More)
BACKGROUND Carbamazepine causes various forms of hypersensitivity reactions, ranging from maculopapular exanthema to severe blistering reactions. The HLA-B*1502 allele has been shown to be strongly correlated with carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) in the Han Chinese and other Asian populations but not in(More)
Keynote address: 'Old men and selfish spermatogonia: how much do they contribute to the mutation burden?' We present a study on a non-consanguineous Irish family that includes two siblings (male and female) with dilated cardiomyopathy (DCM) and chorioretinopathy. The children have been extensively investigated by the cardiac, metabolic and genetic teams but(More)
Topoisomerase II (TOP2) removes torsional stress from DNA and facilitates gene transcription by introducing transient DNA double-strand breaks (DSBs). Such DSBs are normally rejoined by TOP2 but on occasion can become abortive and remain unsealed. Here we identify homozygous mutations in the TDP2 gene encoding tyrosyl DNA phosphodiesterase-2, an enzyme that(More)
Tibetan natives have lived on the Tibetan plateau (altitude ∼ 4,000 m) for at least 25,000 years, and as such they are adapted to life and reproduction in a hypoxic environment. Recent studies have identified two genetic loci, EGLN1 and EPAS1, that have undergone natural selection in Tibetans, and further demonstrated an association of EGLN1/EPAS1 genotype(More)
This exploratory study assessed physiological, behavioral, and self-report measures of sexual and romantic indicators of sexual orientation identities among young men (mean age = 21.9 years) with predominant same-sex sexual and romantic interests: those who described themselves as bisexual leaning gay (n = 11), mostly gay (n = 17), and gay (n = 47).(More)
The Ulster Medical Society grants to all users on the basis of a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Licence the right to alter or build upon the work non-commercially, as long as the author is credited and the new creation is licensed under identical terms. Behcet's disease (BD) is a complex, multifactorial rare disease,(More)
BACKGROUND Trastuzumab treatment for women with HER2-positive breast cancer (BC) resulted in the significant improvement of both relapse free survival (RFS) and overall survival (OS). However, many women who are classified as HER2-positive do not respond. Many studies have focused on the role of somatic mutations rather than germline polymorphisms in(More)
Keynote address: " Clinical Implications of 2-day whole genome sequencing of acutely ill infants " Prof. Comparative Genomic Hybridisation (CGH) Microarray has been available in Ireland to Paediatricians from the year 2011. Guidelines for investigation of infants and children with features of developmental delay, dysmorphic features and some cases of(More)