Maria E Sousa

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 · 252 citations · Full text

Inherited Eye Diseases, Genetic Testing, Genetic Disorder +11

Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes

Michael H. Farkas, Gregory R. Grant, Joseph White et al. · BMC Genomics · 2013 · 170 citations · Full text

Mutations in Pre-mRNA Processing Factors 3, 8, and 31 Cause Dysfunction of the Retinal Pigment Epithelium

Michael H. Farkas, Déborah Lew, Maria E Sousa et al. · American Journal Of Pathology · 2014 · 78 citations · Full text

Characterization of lincRNA expression in the human retinal pigment epithelium and differentiated induced pluripotent stem cells

Elizabeth D. Au, Rosario Fernández‐Godino, Tadeusz J. Kaczynksi et al. · PLoS ONE · 2017 · 15 citations · Full text

Genetics, Cell Specialization, Lincrna Expression +19

Effect of Physiological Oxygen on Primary Human Corneal Endothelial Cell Cultures

Sangita P. Patel, Brayan Calle Gonzalez, Nataliia Paone et al. · Translational Vision Science & Technology · 2022 · 10 citations · Full text