Maria Janessian

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

Mark Consugar, Daniel Navarro-Gomez, Emily Place et al. · Genetics in Medicine · 2014 · 257 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to <i>OPA1</i> mutation status.

Eric D. Gaier, Katherine Boudreault, Isao Nakata et al. · PubMed · 2017 · 16 citations · Full text

Life Sciences, Genetics, Ophthalmology +17

NOD2 genetic variants and sarcoidosis-associated uveitis

Samaneh Davoudi, Daniel Navarro-Gomez, Cindy Ung et al. · American Journal of Ophthalmology Case Reports · 2016 · 13 citations · Full text

Life Sciences, Genetics, Ophthalmology +17