Browsing by Author Storen, Rebecca

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Issue DateTitleAuthor(s)Citation
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
2011Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringBennetts, Bruce; Jamieson, Robyn; Storen, Rebecca; Savarirayan, Ravi; Stark, Zornitza; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye HealthIsolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring, European Journal of Human Genetics, vol.19, 72, 2011,pp 753-756
2009Novel SOX2 partner-factor domain mutation in a four-generation familyGrigg, John; Jamieson, Robyn; Tam, Patrick; Abraham, Peter; Chen, Yongjuan; Donald, Jenny; Flaherty, Maree; Gibson, Kate; Gole, Glen A.; Krowka, Renata; Mihelec, Marija; Storen, Rebecca; Susman, Rachel D.; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsNovel SOX2 partner-factor domain mutation in a four-generation family, European Journal of Human Genetics, vol.17, 11,pp 1417-1422
2010Twist2: Role in Corneal Stromal Keratocyte Proliferation and Corneal ThicknessGrigg, John; Jamieson, Robyn; Mihelec, Marija; Storen, Rebecca; Tam, Patrick; Weaving, Linda; Sosic, Drazen; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthTwist2: Role in Corneal Stromal Keratocyte Proliferation and Corneal Thickness, Investigative Ophthalmology & Visual Science, vol.51, 11,pp 5561-5570