Frederick T. Collison

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration

Jana Zernant, Winston Lee, Frederick T. Collison et al. · Journal of Medical Genetics · 2017 · 187 citations · Full text

Analysis of the ABCA4 genomic locus in Stargardt disease

Jana Zernant, Ya‐Jing Xie, Carmen Ayuso et al. · Human Molecular Genetics · 2014 · 131 citations · Full text

Genetics, Pathology, Abca4 Genomic Locus +16

Residual Foveal Cone Structure in <i>CNGB3</i>-Associated Achromatopsia

Christopher S. Langlo, Emily J Patterson, Brian P. Higgins et al. · Investigative Ophthalmology & Visual Science · 2016 · 108 citations · Full text

Genotype-Dependent Variability in Residual Cone Structure in Achromatopsia: Toward Developing Metrics for Assessing Cone Health

Adam M. Dubis, Robert F. Cooper, Jonathan Aboshiha et al. · Investigative Ophthalmology & Visual Science · 2014 · 77 citations · Full text

Extremely hypomorphic and severe deep intronic variants in the <i>ABCA4</i> locus result in varying Stargardt disease phenotypes

Jana Zernant, Winston Lee, Takayuki Nagasaki et al. · Molecular Case Studies · 2018 · 73 citations · Full text