Using Telemedicine to Preserve Internal Medicine Residency Continuity Clinic During the COVID-19 Pandemic: Results from a National Survey

por Kearns, Lisa, Dupras, Denise, Ortiz, Jordan, Catalanotti, Jillian
Publicado 2022

Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign

por Staffieri, Sandra E., Kearns, Lisa S., Sanfilippo, Paul G., Craig, Jamie E., Mackey, David A., Hewitt, Alex W.
Publicado 2018

Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma

por Young, Thomas K., Souzeau, Emmanuelle, Liu, Lance, Kearns, Lisa S., Burdon, Kathryn P., Craig, Jamie E., Ruddle, Jonathan B.
Publicado 2012

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

por Baderna, Valentina, Schultz, Joshua, Kearns, Lisa S., Fahey, Michael, Thompson, Bryony A., Ruddle, Jonathan B., Huq, Aamira, Maltecca, Francesca
Publicado 2020

Mitochondrial Oxidative Phosphorylation Compensation May Preserve Vision in Patients with OPA1-Linked Autosomal Dominant Optic Atrophy

por Van Bergen, Nicole J., Crowston, Jonathan G., Kearns, Lisa S., Staffieri, Sandra E., Hewitt, Alex W., Cohn, Amy C., Mackey, David A., Trounce, Ian A.
Publicado 2011

Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy

por Van Bergen, Nicole J, Crowston, Jonathan G., Craig, Jamie E., Burdon, Kathryn P., Kearns, Lisa S., Sharma, Shiwani, Hewitt, Alex W., Mackey, David A., Trounce, Ian A.
Publicado 2015

The role of toll-like receptor variants in acute anterior uveitis

por Pratap, Divya S., Lim, Lyndell L., Wang, Jie Jin, Mackey, David A., Kearns, Lisa S., Stawell, Richard J., Burdon, Kathryn P., Mitchell, Paul, Craig, Jamie E., Hall, Anthony J., Hewitt, Alex W.
Publicado 2011

Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: Results of a genome-wide association...

por Yazar, Seyhan, Mishra, Aniket, Ang, Wei, Kearns, Lisa S., Mountain, Jenny A., Pennell, Craig, Montgomery, Grant W., Young, Terri L., Hammond, Christopher J., Macgregor, Stuart, Mackey, David A., Hewitt, Alex W.
Publicado 2013

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma

por Souzeau, Emmanuelle, Hayes, Melanie, Ruddle, Jonathan B., Elder, James E., Staffieri, Sandra E., Kearns, Lisa S., Mackey, David A., Zhou, Tiger, Ridge, Bronwyn, Burdon, Kathryn P., Dubowsky, Andrew, Craig, Jamie E.
Publicado 2015

Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma

por Singh, Larry N., Crowston, Jonathan G., Lopez Sanchez, M. Isabel G., Van Bergen, Nicole J., Kearns, Lisa S., Hewitt, Alex W., Yazar, Seyhan, Mackey, David A., Wallace, Douglas C., Trounce, Ian A.
Publicado 2018

Establishing risk of vision loss in Leber hereditary optic neuropathy

por 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.
Publicado 2021

Pathogenic genetic variants identified in Australian families with paediatric cataract

por 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
Publicado 2022

Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy

por Wong, Raymond C.B., Lim, Shiang Y., Hung, Sandy S.C., Jackson, Stacey, Khan, Shahnaz, Van Bergen, Nicole J., De Smit, Elisabeth, Liang, Helena H., Kearns, Lisa S, Clarke, Linda, Mackey, David A., Hewitt, Alex W., Trounce, Ian A., Pébay, Alice
Publicado 2017

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

por Sue, Carolyn M., Balasubramaniam, Shanti, Bratkovic, Drago, Bonifant, Catherine, Christodoulou, John, Coman, David, Crawley, Karen, Edema‐Hildebrand, Fabienne, Ellaway, Carolyn, Ghaoui, Roula, Kava, Maina, Kearns, Lisa S., Lee, Joy, Liang, Christina, Mackey, David A., Murray, Sean, Needham, Merrilee, Rius, Rocio, Russell, Jacqui, Smith, Nicholas J.C., Thyagarajan, Dominic, Wools, Christine
Publicado 2021

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort

por 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.
Publicado 2022

Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?

por Mackey, David A., Ong, Jue-Sheng, MacGregor, Stuart, Whiteman, David C., Craig, Jamie E., 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, Howell, Neil, Hewitt, Alex W.
Publicado 2023

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

por 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
Publicado 2017

Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

por Davidson, Alice E., Cheong, Sek-Shir, Hysi, Pirro G., Venturini, Cristina, Plagnol, Vincent, Ruddle, Jonathan B., Ali, Hala, Carnt, Nicole, Gardner, Jessica C., Hassan, Hala, Gade, Else, Kearns, Lisa, Jelsig, Anne Marie, Restori, Marie, Webb, Tom R., Laws, David, Cosgrove, Michael, Hertz, Jens M., Russell-Eggitt, Isabelle, Pilz, Daniela T., Hammond, Christopher J., Tuft, Stephen J., Hardcastle, Alison J.
Publicado 2014

Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma

por Daniszewski, Maciej, Senabouth, Anne, Liang, Helena H., Han, Xikun, Lidgerwood, Grace E., Hernández, Damián, Sivakumaran, Priyadharshini, Clarke, Jordan E., Lim, Shiang Y., Lees, Jarmon G., Rooney, Louise, Gulluyan, Lerna, Souzeau, Emmanuelle, Graham, Stuart L., Chan, Chia-Ling, Nguyen, Uyen, Farbehi, Nona, Gnanasambandapillai, Vikkitharan, McCloy, Rachael A., Clarke, Linda, Kearns, Lisa S., Mackey, David A., Craig, Jamie E., MacGregor, Stuart, Powell, Joseph E., Pébay, Alice, Hewitt, Alex W.
Publicado 2022

Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration

por Senabouth, Anne, Daniszewski, Maciej, Lidgerwood, Grace E., Liang, Helena H., Hernández, Damián, Mirzaei, Mehdi, Keenan, Stacey N., Zhang, Ran, Han, Xikun, Neavin, Drew, Rooney, Louise, Lopez Sanchez, Maria Isabel G., Gulluyan, Lerna, Paulo, Joao A., Clarke, Linda, Kearns, Lisa S., Gnanasambandapillai, Vikkitharan, Chan, Chia-Ling, Nguyen, Uyen, Steinmann, Angela M., McCloy, Rachael A., Farbehi, Nona, Gupta, Vivek K., Mackey, David A., Bylsma, Guy, Verma, Nitin, MacGregor, Stuart, Watt, Matthew J., Guymer, Robyn H., Powell, Joseph E., Hewitt, Alex W., Pébay, Alice
Publicado 2022