Declan O’Rourke

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Dorien Lugtenberg, Tjitske Kleefstra, Astrid Oudakker et al. · European Journal of Human Genetics · 2008 · 148 citations · Full text

Structural Variation, Mecp2 Duplications, Mendelian Disorder +10

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Veerle Rc Eggens, P. G. Barth, Jikke-Mien F. Niermeijer et al. · Orphanet Journal of Rare Diseases · 2014 · 88 citations · Full text

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

Martin Broly, Bogdan Polevoda, Kamel Awayda et al. · The American Journal of Human Genetics · 2022 · 43 citations · Full text

Trna Acetylation, Developmental Biology, Syndromic Neurodevelopmental Disorder +9

Infant botulism due to<i>C. butyricum</i>type E toxin: a novel environmental association with pet terrapins

Emer Shelley, Declan O’Rourke, Kathie Grant et al. · Epidemiology and Infection · 2014 · 35 citations · Full text

Neurological involvement in children with hemolytic uremic syndrome

Caoimhe Costigan, Tara Raftery, Anne G. Carroll et al. · European Journal of Pediatrics · 2021 · 34 citations · Full text

Neurological Disorder, Clinical Neurology, Pediatric Epidemiology +18