Precision medicine in Australia: now is the time to get it right

por O'Shea, Rosie, Ma, Alan S, Jamieson, Robyn V, Rankin, Nicole M
Publicado 2022

Identification of missense MAB21L1 variants in microphthalmia and aniridia

por Seese, Sarah E., Reis, Linda M., Deml, Brett, Griffith, Christopher, Reich, Adi, Jamieson, Robyn V., Semina, Elena V.
Publicado 2021

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

Outcome measures in juvenile X-linked retinoschisis: A systematic review

por Grigg, John R., Hooper, Claire Y., Fraser, Clare L., Cornish, Elisa E., McCluskey, Peter J., Jamieson, Robyn V.
Publicado 2020

Patient-Reported Health-Related Quality of Life in Individuals with Inherited Retinal Diseases

por Schofield, Deborah, Kraindler, Joshua, Tan, Owen, Shrestha, Rupendra, Jelovic, Diana, West, Sarah, Ma, Alan, Grigg, John, Jamieson, Robyn V.
Publicado 2021

Comprehensive characterization of fetal and mature retinal cell identity to assess the fidelity of retinal organoids

por Kim, Hani Jieun, O’Hara-Wright, Michelle, Kim, Daniel, Loi, To Ha, Lim, Benjamin Y., Jamieson, Robyn V., Gonzalez-Cordero, Anai, Yang, Pengyi
Publicado 2023

Electronegative electroretinogram in the modern multimodal imaging era

por Sakti, Dhimas H., Ali, Haipha, Korsakova, Maria, Saakova, Nonna, Mustafic, Nina, Fraser, Clare L., Jamieson, Robyn V., Cornish, Elisa E., Grigg, John R.
Publicado 2022

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform

por Sharma, Shiwani, Burdon, Kathryn P., Dave, Alpana, Jamieson, Robyn V., Yaron, Yuval, Billson, Frank, Van Maldergem, Lionel, Lorenz, Birgit, Gécz, Jozef, Craig, Jamie E.
Publicado 2008

Assessing Residual Cone Function in Retinitis Pigmentosa Patients

por Arsiwalla, Tasneem A., Cornish, Elisa E., Nguyen, Phuc Vuong, Korsakova, Maria, Ali, Haipha, Saakova, Nonna, Fraser, Clare L., Jamieson, Robyn V., Grigg, John R.
Publicado 2020

Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey

por Mack, Heather G, Chen, Fred K, Grigg, John, Jamieson, Robyn, De Roach, John, O’Hare, Fleur, Britten-Jones, Alexis Ceecee, McGuinness, Myra, Tindill, Nicole, Ayton, Lauren
Publicado 2021

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

Prevalence of Glaucoma Following Paediatric Cataract Surgery in an Australian Tertiary Referral Centre

por Wood, Alanna, Lim, Benjamin, Matthews, Jim, Karaconji, Tanya, Zagora, Sophia L, Jamieson, Robyn V, Grigg, John R, Jones, Michael, Rowe, Neil, Hing, Stephen, Donaldson, Craig, Smith, James E H
Publicado 2023

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

Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia

por Mack, Heather G., Britten-Jones, Alexis Ceecee, McGuinness, Myra B., Chen, Fred K., Grigg, John R., Jamieson, Robyn V., Edwards, Thomas L., De Roach, John, O’Hare, Fleur, Martin, Keith R., Ayton, Lauren N.
Publicado 2022

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

por Ma, Alan S., Grigg, John R., Ho, Gladys, Prokudin, Ivan, Farnsworth, Elizabeth, Holman, Katherine, Cheng, Anson, Billson, Frank A., Martin, Frank, Fraser, Clare, Mowat, David, Smith, James, Christodoulou, John, Flaherty, Maree, Bennetts, Bruce, Jamieson, Robyn V.
Publicado 2016

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

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

por Utami, Kagistia H., Hillmer, Axel M., Aksoy, Irene, Chew, Elaine G. Y., Teo, Audrey S. M., Zhang, Zhenshui, Lee, Charlie W. H., Chen, Pauline J., Seng, Chan Chee, Ariyaratne, Pramila N., Rouam, Sigrid L., Soo, Lim Seong, Yousoof, Saira, Prokudin, Ivan, Peters, Gregory, Collins, Felicity, Wilson, Meredith, Kakakios, Alyson, Haddad, Georges, Menuet, Arnaud, Perche, Olivier, Tay, Stacey Kiat Hong, Sung, Ken W. K., Ruan, Xiaoan, Ruan, Yijun, Liu, Edison T., Briault, Sylvain, Jamieson, Robyn V., Davila, Sonia, Cacheux, Valere
Publicado 2014

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

por Williams, Lloyd B., Javed, Asif, Sabri, Amin, Morgan, Denise J., Huff, Chad D., Grigg, John R., Heng, Xiu Ting, Khng, Alexis J., Hollink, Iris H. I. M., Morrison, Margaux A., Owen, Leah A., Anderson, Katherine, Kinard, Krista, Greenlees, Rebecca, Novacic, Danica, Nida Sen, H., Zein, Wadih M., Rodgers, George M., Vitale, Albert T., Haider, Neena B., Hillmer, Axel M., Ng, Pauline C., Shankaracharya, Cheng, Anson, Zheng, Linda, Gillies, Mark C., van Slegtenhorst, Marjon, van Hagen, P. Martin, Missotten, Tom O. A. R., Farley, Gary L., Polo, Michael, Malatack, James, Curtin, Julie, Martin, Frank, Arbuckle, Susan, Alexander, Stephen I., Chircop, Megan, Davila, Sonia, Digre, Kathleen B., Jamieson, Robyn V., DeAngelis, Margaret M.
Publicado 2019