Publications by authors named "Eammon Sheridan"
Article Synopsis
- The study investigates the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders in patients recruited from 14 international centers.
- Researchers found pathogenic variants in 17 different genes across 140 patients, with the majority exhibiting generalized hyperkinetic movements and various associated motor symptoms.
- The findings suggest that those with generalized hyperkinetic movements tend to have an earlier disease onset, and highlight the need for disease-specific treatments tailored to individual genetic conditions.
Leukodystrophies are a heterogenous group of genetic disorders, characterised by abnormal development of cerebral white matter. Pelizaeus-Merzbacher disease is caused by mutations in PLP1, encoding major myelin-resident protein required for myelin sheath assembly. We report a missense variant p.
View Article and Find Full Text PDFRecent studies have reported that regions of homozygosity (ROH) in the genome are detectable in outbred populations and can be associated with an increased risk of malignancy. To examine whether homozygosity is associated with an increased risk of developing childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL), we analyzed 824 ALL cases and 2398 controls genotyped for 292 200 tagging SNPs. Across the genome, cumulative distribution of ROH was not significantly different between cases and controls.
View Article and Find Full Text PDFTo identify risk variants for childhood acute lymphoblastic leukemia (ALL), we conducted a genome-wide association study of two case-control series, analyzing the genotypes with respect to 291,423 tagging SNPs in a total of 907 ALL cases and 2,398 controls. We identified risk loci for ALL at 7p12.2 (IKZF1, rs4132601, odds ratio (OR) = 1.
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