Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry von Knight, Lachlan S.W., Ruddle, Jonathan B., Taranath, Deepa A., Goldberg, Ivan, Smith, James E.H., Gole, Glen, Chiang, Mark Y., Willett, Faren, D’Mellow, Guy, Breen, James, Qassim, Ayub, Mullany, Sean, Elder, James E., Vincent, Andrea L., Staffieri, Sandra E., Kearns, Lisa S., Mackey, David A., Luu, Susie, Siggs, Owen M., Souzeau, Emmanuelle, Craig, Jamie E.

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Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma von Siggs, Owen M., Souzeau, Emmanuelle, Taranath, Deepa A., Dubowsky, Andrew, Chappell, Angela, Zhou, Tiger, Javadiyan, Shari, Nicholl, Jillian, Kearns, Lisa S., Staffieri, Sandra E., Narita, Andrew, Smith, James E.H., Pater, John, Hewitt, Alex W., Ruddle, Jonathan B., Elder, James E., Mackey, David A., Burdon, Kathryn P., Craig, Jamie E.

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Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma von Fu, Haojie, Siggs, Owen M, Knight, Lachlan Sw, Staffieri, Sandra E, Ruddle, Jonathan B, Birsner, Amy E, Collantes, Edward Ryan, Craig, Jamie E, Wiggs, Janey L, D'Amato, Robert J

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High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia von Javadiyan, Shari, Craig, Jamie E, Souzeau, Emmanuelle, Sharma, Shiwani, Lower, Karen M, Mackey, David A, Staffieri, Sandra E, Elder, James E, Taranath, Deepa, Straga, Tania, Black, Joanna, Pater, John, Casey, Theresa, Hewitt, Alex W, Burdon, Kathryn P

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Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia von Dave, Alpana, Laurie, Kate, Staffieri, Sandra E, Taranath, Deepa, Mackey, David A, Mitchell, Paul, Wang, Jie Jin, Craig, Jamie E, Burdon, Kathryn P, Sharma, Shiwani

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Pathogenic genetic variants identified in Australian families with paediatric cataract von Jones, Johanna L, McComish, Bennet J, Staffieri, Sandra E, Souzeau, Emmanuelle, Kearns, Lisa S, Elder, James E, Charlesworth, Jac C, Mackey, David A, Ruddle, Jonathan B, Taranath, Deepa, Pater, John, Casey, Theresa, Craig, Jamie E, Burdon, Kathryn P

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Living with heritable retinoblastoma and the perceived role of regular follow-up at a retinoblastoma survivorship clinic: ‘That is exactly what I have been missing’ von Gregersen, Pernille Axel, Funding, Mikkel, Alsner, Jan, Olsen, Maja H, Overgaard, Jens, Urbak, Steen F, Staffieri, Sandra E, Lou, Stina

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Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort von Souzeau, Emmanuelle, Siggs, Owen M., Mullany, Sean, Schmidt, Joshua M., Hassall, Mark M., Dubowsky, Andrew, Chappell, Angela, Breen, James, Bae, Haae, Nicholl, Jillian, Hadler, Johanna, Kearns, Lisa S., Staffieri, Sandra E., Hewitt, Alex W., Mackey, David A., Gupta, Aanchal, Burdon, Kathryn P., Klebe, Sonja, Craig, Jamie E., Mills, Richard A.

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Establishing risk of vision loss in Leber hereditary optic neuropathy von Lopez Sanchez, M. Isabel G., Kearns, Lisa S., Staffieri, Sandra E., Clarke, Linda, McGuinness, Myra B., Meteoukki, Wafaa, Samuel, Sona, Ruddle, Jonathan B., Chen, Celia, Fraser, Clare L., Harrison, John, Hewitt, Alex W., Howell, Neil, Mackey, David A.

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Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma von Siggs, Owen M, Souzeau, Emmanuelle, Pasutto, Francesca, Dubowsky, Andrew, Smith, James E. H, Taranath, Deepa, Pater, John, Rait, Julian L, Narita, Andrew, Mauri, Lucia, Del Longo, Alessandra, Reis, André, Chappell, Angela, Kearns, Lisa S, Staffieri, Sandra E, Elder, James E, Ruddle, Jonathan B, Hewitt, Alex W, Burdon, Kathryn P, Mackey, David A, Craig, Jamie E

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Treatment Outcomes and Definition Inconsistencies in High-Risk Unilateral Retinoblastoma von ARAZI, MATTAN, BAUM, ALONA, CASAVILCA-ZAMBRANO, SANDRO, Alarcon-Leon, Sandra, DIAZ-CORONADO, ROSDALI, AHMAD, ALIA, MUSHTAQ, ASMA, HUSSAIN, MAHVISH, USHAKOVA, TATIANA, YURI, SEROV, VLADIMIR, POLYAKOV, SHIELDS, CAROL L., EAGLE, RALPH C., BERRY, JESSE L., PIKE, SARAH, BROWN, BRIANNE, ROY, SOMA RANI, HUQUE, FAHMIDA, FABIAN, INA, FRENKEL, SHAHAR, EIGER-MOSCOVICH, MAYA, PE'ER, JACOB, HUBBARD, G BAKER, OLSON, THOMAS A., GROSSNIKLAUS, HANS, REDDY, M. ASHWIN, SAGOO, MANDEEP S., STAFFIERI, SANDRA E., ELDER, JAMES E., MCKENZIE, JOHN D., TANABE, MIKA, KALIKI, SWATHI, FABIAN, IDO DIDI

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Improving parents' knowledge of early signs of paediatric eye disease: A double‐blind randomized controlled trial von Staffieri, Sandra E., Rees, Gwyneth, Sanfilippo, Paul G., Cole, Stephen, Mackey, David A., Hewitt, Alex W.

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Sex, gender, and retinoblastoma: analysis of 4351 patients from 153 countries von Fabian, Ido Didi, Khetan, Vikas, Stacey, Andrew W., Allen Foster, Ademola-Popoola, Dupe S., Berry, Jesse L., Cassoux, Nathalie, Chantada, Guillermo L., Hessissen, Laila, Kaliki, Swathi, Kivelä, Tero T., Luna-Fineman, Sandra, Munier, Francis L., Reddy, M. Ashwin, Rojanaporn, Duangnate, Blum, Sharon, Sherief, Sadik T., Staffieri, Sandra E., Theophile, Tuyisabe, Waddell, Keith, Ji, Xunda, Astbury, Nicholas J., Bascaran, Covadonga, Burton, Matthew, Zondervan, Marcia, Bowman, Richard

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Parent satisfaction and acceptability of telehealth consultations in pediatric ophthalmology: initial experience during the COVID-19 pandemic von Staffieri, Sandra E., Mathew, Anu A., Sheth, Shivanand J., Ruddle, Jonathan B., Elder, James E.

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Danish heritable retinoblastoma survivors' perspectives on reproductive choices: “It's important for me, not to pass on this condition” von Gregersen, Pernille A., Funding, Mikkel, Alsner, Jan, Olsen, Maja H., Overgaard, Jens, Urbak, Steen F., Staffieri, Sandra E., Lou, Stina

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Quality of Life in Adults with Childhood Glaucoma: An Interview Study von Knight, Lachlan S W, Ridge, Bronwyn, Staffieri, Sandra E, Craig, Jamie E, Prem Senthil, Mallika, Souzeau, Emmanuelle

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Genetic testing in adult survivors of retinoblastoma in Denmark: A study of the experience and impact of genetic testing many years after initial diagnosis von Gregersen, Pernille A., Funding, Mikkel, Alsner, Jan, Olsen, Maja H., Overgaard, Jens, Staffieri, Sandra E., Lou, Stina, Urbak, Steen F.

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The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort von Siggs, Owen M., Awadalla, Mona S., Souzeau, Emmanuelle, Staffieri, Sandra E., Kearns, Lisa S., Laurie, Kate, Kuot, Abraham, Qassim, Ayub, Edwards, Thomas L., Coote, Michael A., Mancel, Erica, Walland, Mark J., Dondey, Joanne, Galanopoulous, Anna, Casson, Robert J., Mills, Richard A., MacArthur, Daniel G., Ruddle, Jonathan B., Burdon, Kathryn P., Craig, Jamie E.

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Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants von Souzeau, Emmanuelle, Siggs, Owen M, Zhou, Tiger, Galanopoulos, Anna, Hodson, Trevor, Taranath, Deepa, Mills, Richard A, Landers, John, Pater, John, Smith, James E, Elder, James E, Rait, Julian L, Giles, Paul, Phakey, Vivek, Staffieri, Sandra E, Kearns, Lisa S, Dubowsky, Andrew, Mackey, David A, Hewitt, Alex W, Ruddle, Jonathan B, Burdon, Kathryn P, Craig, Jamie E

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Managing fetuses at high risk of retinoblastoma: lesion detection on screening MRI von Staffieri, Sandra E., McGillivray, George, Elder, James E., Bristowe, Amber, Cole, Stephen, McKenzie, John D., Fink, A. Michelle

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