Browsing by Author Simons, Cas

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Issue DateTitleAuthor(s)Citation
2017Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunctionBhattacharya, Kaustuv; Christodoulou, John; Gold, Wendy; Nafisinia, Michael; Riley, Lisa; Broderick, Carolyn; Simons, Cas; Thorburn, David; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthCompound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction, PloS One, vol.12, 6, 2017,pp 1-12
2014Exome sequencing in developmental eye disease leads to identfication of causal variants in GJA8, CRYGC, PAX6 and CYP1B1Grigg, John; Jamieson, Robyn; Storen, Rebecca; Davila, S; Flaherty, Maree; Kumar, V; Phua, Z.Y.; Prokudin, I; Simons, Cas; Smith, J; Central Clinical School: Clinical Ophthal & Eye Health; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye HealthExome sequencing in developmental eye disease leads to identfication of causal variants in GJA8, CRYGC, PAX6 and CYP1B1, European Journal of Human Genetics, vol.22, 7, 2014,pp 907-915
2010Nuclear-localized tiny RNAs are associated with transcription initiation and splice sites in metazoansHolst, Jeffrey; Rasko, John; Ritchie, William; Degnam, Bernard S; Korbie, Darren J; Mattick, John S; Mercer, Timothy R; Nahkuri, Satu; Oey, Harald; Rokhsar, Daniel S; Simons, Cas; Taft, Ryan J; Wong, Justin J-L; Central Clinical School: Centenary Institute; Central Clinical School: Centenary Institute; Central Clinical School: Centenary InstituteNuclear-localized tiny RNAs are associated with transcription initiation and splice sites in metazoans, Nature Structural and Molecular Biology, vol.17, 8, 2010,pp 1030-1035
2014Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patientChristodoulou, John; Cooper, Sandra; Menezes, Minal; Riley, Lisa; Grimmond, Sean Michael; Miller, David K; Simons, Cas; Taft, Ryan J; Thorburn, David R.; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Vet Science FacultyRapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient, PloS One, vol.9, 8, 2014,pp 1-6