1. Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome. Issue 4 (11th March 2014) Authors: Handley, Mark T.; Mégarbané, André; Meynert, Alison M.; Brown, Stephen; Freyer, Elisabeth; Taylor, Martin S.; Jackson, Ian J.; Aligianis, Irene A. Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 4(2014:Jul.) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome. Issue 5 (11th April 2013) Authors: Handley, Mark T.; Morris‐Rosendahl, Deborah J.; Brown, Stephen; Macdonald, Fiona; Hardy, Carol; Bem, Danai; Carpanini, Sarah M.; Borck, Guntram; Martorell, Loreto; Izzi, Claudia; Faravelli, Francesca; Accorsi, Patrizia; Pinelli, Lorenzo; Basel‐Vanagaite, Lina; Peretz, Gabriela; Abdel‐Salam, Ghada... Journal: Human mutation Issue: Volume 34:Issue 5(2013:May) Page Start: 686 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. Issue 6 (June 2015) Authors: Handley, Mark T.; Carpanini, Sarah M.; Mali, Girish R.; Sidjanin, Duska J.; Aligianis, Irene A.; Jackson, Ian J.; FitzPatrick, David R. Journal: Open biology Issue: Volume 5:Issue 6(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗