Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy

by Ortube, Maria Carolina, Strom, Samuel P, Nelson, Stanley F, Nusinowitz, Steven, Martinez, Ariadna, Gorin, Michael B
Published 2014

Endophenotypes for Age-Related Macular Degeneration: Extending Our Reach into the Preclinical Stages of Disease

by Gorin, Michael B., Weeks, Daniel E., Baron, Robert V., Conley, Yvette P., Ortube, Maria C., Nusinowitz, Steven
Published 2014

Molecular diagnosis of putative Stargardt disease probands by exome sequencing

by Strom, Samuel P, Gao, Yong-Qing, Martinez, Ariadna, Ortube, Carolina, Chen, Zugen, Nelson, Stanley F, Nusinowitz, Steven, Farber, Deborah B, Gorin, Michael B
Published 2012

Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure

by Chang, Bo, Smith, Richard S, Peters, Maureen, Savinova, Olga V, Hawes, Norman L, Zabaleta, Adriana, Nusinowitz, Steven, Martin, Janice E, Davisson, Muriel L, Cepko, Constance L, Hogan, Brigid LM, John, Simon WM
Published 2001

Identification of DES1 as a Vitamin A Isomerase in Müller Glial Cells of the Retina

by Kaylor, Joanna J., Yuan, Quan, Cook, Jeremy, Sarfare, Shanta, Makshanoff, Jacob, Miu, Anh, Kim, Anita, Kim, Paul, Habib, Samer, Roybal, C. Nathaniel, Xu, Tongzhou, Nusinowitz, Steven, Travis, Gabriel H.
Published 2012

Peripheral Sensory Neurons Expressing Melanopsin Respond to Light

by Matynia, Anna, Nguyen, Eileen, Sun, Xiaoping, Blixt, Frank W., Parikh, Sachin, Kessler, Jason, Pérez de Sevilla Müller, Luis, Habib, Samer, Kim, Paul, Wang, Zhe Z., Rodriguez, Allen, Charles, Andrew, Nusinowitz, Steven, Edvinsson, Lars, Barnes, Steven, Brecha, Nicholas C., Gorin, Michael B.
Published 2016