Marija Mihelec
University of Sydney(AU)Children's Medical Research Institute(AU)Children's Hospital at Westmead(AU)
Publications by Year
Research Areas
Retinal Development and Disorders, Ocular Disorders and Treatments, Congenital Ear and Nasal Anomalies, Retinal Diseases and Treatments, Connexins and lens biology
Most-Cited Works
- → Deletion at 14q22‐23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies(2006)99 cited
- → Long-Term Preservation of Cones and Improvement in Visual Function Following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis Caused by Guanylate Cyclase-1 Deficiency(2011)72 cited
- → Mutations inSIPA1L3cause eye defects through disruption of cell polarity and cytoskeleton organization(2015)50 cited
- → Dominant Cone-Rod Dystrophy: A Mouse Model Generated by Gene Targeting of the GCAP1/Guca1a Gene(2011)43 cited
- → Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene,TMEM114, expressed in the lens and disrupted by the translocation(2007)33 cited
- → Novel SOX2 partner-factor domain mutation in a four-generation family(2009)29 cited