A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy

por Scopelliti, Amanda J., Jamieson, Robyn V., Barnes, Elizabeth H., Nash, Benjamin, Rajagopalan, Sulekha, Cornish, Elisa L., Grigg, John R.
Publicado 2023

Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability

por Chahine Karam, Fidelle, Loi, To Ha, Ma, Alan, Nash, Benjamin M., Grigg, John R., Parekh, Darshan, Riley, Lisa G., Farnsworth, Elizabeth, Bennetts, Bruce, Gonzalez-Cordero, Anai, Jamieson, Robyn V.
Publicado 2022

Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging

por Sakti, Dhimas H., Cornish, Elisa E., Fraser, Clare L., Nash, Benjamin M., Sandercoe, Trent M., Jones, Michael M., Rowe, Neil A., Jamieson, Robyn V., Johnson, Alexandra M., Grigg, John R.
Publicado 2023

Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells

por Nash, Benjamin M., Loi, To Ha, Fernando, Milan, Sabri, Amin, Robinson, James, Cheng, Anson, Eamegdool, Steven S., Farnsworth, Elizabeth, Bennetts, Bruce, Grigg, John R., Chung, Seo-Kyung, Gonzalez-Cordero, Anai, Jamieson, Robyn V.
Publicado 2021

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies

por Nash, Benjamin M., Ma, Alan, Ho, Gladys, Farnsworth, Elizabeth, Minoche, Andre E., Cowley, Mark J., Barnett, Christopher, Smith, Janine M., Loi, To Ha, Wong, Karen, St Heaps, Luke, Wright, Dale, Dinger, Marcel E., Bennetts, Bruce, Grigg, John R., Jamieson, Robyn V.
Publicado 2022

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

por Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.
Publicado 2020