Marija Mihelec

Deletion at 14q22‐23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies

Leisha D. Nolen, David J. Amor, Ashley Haywood et al. · American Journal of Medical Genetics Part A · 2006 · 99 citations

Cytogenetics, Genetics, Pathology +16

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

Marija Mihelec, R. A. Pearson, Scott Robbie et al. · Human Gene Therapy · 2011 · 72 citations · Full text

Ganglion Cell, Long-term Preservation, Developmental Biology +15

Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization

Rebecca Greenlees, Marija Mihelec, Saira Yousoof et al. · Human Molecular Genetics · 2015 · 49 citations · Full text

Dominant Cone-Rod Dystrophy: A Mouse Model Generated by Gene Targeting of the GCAP1/Guca1a Gene

Prateek K. Buch, Marija Mihelec, Phillippa Cottrill et al. · PLoS ONE · 2011 · 43 citations · Full text

Ocular Disease, Genetics, Disease Gene Identification +17

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

Robyn V. Jamieson, Nicola Farrar, Katrina Stewart et al. · Human Mutation · 2007 · 33 citations