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Participant understanding and recall of informed consent for induced pluripotent stem cell biobanking.
Published in:
2016
By:
- McCaughey, Tristan;
- Chen, Christine;
- Smit, Elisabeth;
- Rees, Gwyneth;
- Fenwick, Eva;
- Kearns, Lisa;
- Mackey, David;
- MacGregor, Casimir;
- Munsie, Megan;
- Cook, Anthony;
- Pébay, Alice;
- Hewitt, Alex;
- Chen, Christine Y;
- De Smit, Elisabeth;
- Kearns, Lisa S;
- Mackey, David A;
- Cook, Anthony L;
- Pébay, Alice;
- Hewitt, Alex W
Publication type:
journal article
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.
Published in:
Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00975-w
By:
- Baderna, Valentina;
- Schultz, Joshua;
- Kearns, Lisa S.;
- Fahey, Michael;
- Thompson, Bryony A.;
- Ruddle, Jonathan B.;
- Huq, Aamira;
- Maltecca, Francesca
Publication type:
Article
Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31707-4
By:
- 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.
Publication type:
Article
Overuse Injuries in Youth Sports: Legal and Social Responsibility.
Published in:
Journal of Legal Aspects of Sport, 2018, v. 28, n. 2, p. 151, doi. 10.18060/22569
By:
- Friesen, Phoebe;
- Saul, Bethany;
- Kearns, Lisa;
- Bachynski, Kathleen;
- Caplan, Arthur
Publication type:
Article
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2023
By:
- 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.
Publication type:
Article
Heritability of Strabismus: Genetic Influence Is Specific to Eso-Deviation and Independent of Refractive Error.
Published in:
Twin Research & Human Genetics, 2012, v. 15, n. 5, p. 624, doi. 10.1017/thg.2012.22
By:
- Sanfilippo, Paul G.;
- Hammond, Christopher J.;
- Staffieri, Sandra E.;
- Kearns, Lisa S.;
- Melissa Liew, S. H.;
- Barbour, Julie M.;
- Hewitt, Alex W.;
- Ge, Dongliang;
- Snieder, Harold;
- MacKinnon, Jane R.;
- Brown, Shayne A.;
- Lorenz, Birgit;
- Spector, Tim D.;
- Martin, Nicholas G.;
- Wilmer, Jeremy B.;
- Mackey, David A.
Publication type:
Article
The Norfolk Island Eye Study (NIES): rationale, methodology and distribution of ocular biometry (biometry of the bounty).
Published in:
2011
By:
- Mackey, David A;
- Sherwin, Justin C;
- Kearns, Lisa S;
- Ma, Yaling;
- Kelly, John;
- Chu, Byoung-Sun;
- MacMillan, Robert;
- Barbour, Julie M;
- Wilkinson, Colleen H;
- Matovinovic, Elizabeth;
- Cox, Hannah C;
- Bellis, Claire;
- Lea, Rod A;
- Quinlan, Sharon;
- Griffiths, Lyn R;
- Hewitt, Alex W
Publication type:
journal article
Twins eye study in Tasmania (TEST): rationale and methodology to recruit and examine twins.
Published in:
2009
By:
- Mackey, David A.;
- MacKinnon, Jane R.;
- Brown, Shayne A.;
- Kearns, Lisa S.;
- Ruddle, Jonathan B.;
- Sanfilippo, Paul G.;
- Sun, Cong;
- Hammond, Christopher J.;
- Young, Terri L.;
- Martin, Nicholas G.;
- Hewitt, Alex W.
Publication type:
journal article
What compassionate use means for gene therapies.
Published in:
2019
By:
- Chapman, Carolyn Riley;
- Moch, Kenneth I.;
- McFadyen, Andrew;
- Kearns, Lisa;
- Watson, Tom;
- Furlong, Pat;
- Bateman-House, Alison
Publication type:
Letter
MODELLING ALZHEIMER’S DISEASE USING HUMAN CORTICAL CEREBRAL ORGANOIDS.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1482, doi. 10.1016/j.jalz.2017.07.559
By:
- Hernández, Damián;
- Crombie, Duncan E.;
- Liang, Helena H.;
- Kearns, Lisa;
- Ng, Sze W.;
- de Smit, Elizabeth;
- Clarke, Linda;
- Vickers, James C.;
- Van Wijngaarden, Peter;
- Hewitt, Alex W.;
- Pébay, Alice
Publication type:
Article
Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy.
Published in:
PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0140919
By:
- 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.
Publication type:
Article
Association of <i>CHRDL1</i> Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness.
Published in:
PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104163
By:
- 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.
Publication type:
Article
Mitochondrial Oxidative Phosphorylation Compensation May Preserve Vision in Patients with OPA1-Linked Autosomal Dominant Optic Atrophy.
Published in:
PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021347
By:
- Bergen, Nicole J. Van;
- Crowston, Jonathan G.;
- Kearns, Lisa S.;
- Staffieri, Sandra E.;
- Hewitt, Alex W.;
- Cohn, Amy C.;
- Mackey, David A.;
- Trounce, Ian A.
Publication type:
Article
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
Published in:
Internal Medicine Journal, 2022, v. 52, n. 1, p. 110, doi. 10.1111/imj.15505
By:
- 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.
Publication type:
Article
Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-07819-1
By:
- Iglesias, Adriana I.;
- Mishra, Aniket;
- Vitart, Veronique;
- Bykhovskaya, Yelena;
- Höhn, René;
- Springelkamp, Henriët;
- Cuellar-Partida, Gabriel;
- Gharahkhani, Puya;
- Bailey, Jessica N. Cooke;
- Willoughby, Colin E.;
- Li, Xiaohui;
- Yazar, Seyhan;
- Nag, Abhishek;
- Khawaja, Anthony P.;
- Polašek, Ozren;
- Siscovick, David;
- Mitchell, Paul;
- Tham, Yih Chung;
- Haines, Jonathan L.;
- Kearns, Lisa S.
Publication type:
Article
Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.
Published in:
2019
By:
- 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.
Publication type:
journal article
Effectiveness of a Binocular Video Game vs Placebo Video Game for Improving Visual Functions in Older Children, Teenagers, and Adults With Amblyopia: A Randomized Clinical Trial.
Published in:
2018
By:
- Gao, Tina Y.;
- Guo, Cindy X.;
- Babu, Raiju J.;
- Black, Joanna M.;
- Bobier, William R.;
- Chakraborty, Arijit;
- Dai, Shuan;
- Hess, Robert F.;
- Jenkins, Michelle;
- Jiang, Yannan;
- Kearns, Lisa S.;
- Kowal, Lionel;
- Lam, Carly S. Y.;
- Pang, Peter C. K.;
- Parag, Varsha;
- Pieri, Roberto;
- Raveendren, Rajkumar Nallour;
- South, Jayshree;
- Staffieri, Sandra Elfride;
- Wadham, Angela
Publication type:
journal article
Optical treatment of amblyopia in older children and adults is essential prior to enrolment in a clinical trial.
Published in:
Ophthalmic & Physiological Optics, 2018, v. 38, n. 2, p. 129, doi. 10.1111/opo.12437
By:
- Gao, Tina Y.;
- Anstice, Nicola;
- Babu, Raiju J.;
- Black, Joanna M.;
- Bobier, William R.;
- Dai, Shuan;
- Guo, Cindy X.;
- Hess, Robert F.;
- Jenkins, Michelle;
- Jiang, Yannan;
- Kearns, Lisa;
- Kowal, Lionel;
- Lam, Carly S. Y.;
- Pang, Peter C. K.;
- Parag, Varsha;
- South, Jayshree;
- Staffieri, Sandra Elfride;
- Wadham, Angela;
- Walker, Natalie;
- Thompson, Benjamin
Publication type:
Article
Management of the Electronic Health Record Inbox: Results From a National Survey of Internal Medicine Program Directors.
Published in:
Journal of Graduate Medical Education, 2023, v. 15, n. 6, p. 711, doi. 10.4300/JGME-D-23-00165.1
By:
- Vaa Stelling, Brianna;
- Halvorsen, Andrew J.;
- Dupras, Denise;
- Kearns, Lisa;
- Kisielewski, Michael;
- Martin, Shannon K.;
- Uthlaut, Brian;
- Leasure, Emily
Publication type:
Article
Rounds Today: A Qualitative Study of Internal Medicine and Pediatrics Resident Perceptions.
Published in:
Journal of Graduate Medical Education, 2016, v. 8, n. 4, p. 523, doi. 10.4300/JGME-D-15-00106.1
By:
- Rabinowitz, Raphael;
- Farnan, Jeanne;
- Hulland, Oliver;
- Kearns, Lisa;
- Long, Michele;
- Monash, Bradley;
- Bhansali, Priti;
- Fromme, H. Barrett
Publication type:
Article
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Published in:
Clinical Genetics, 2020, v. 97, n. 5, p. 764, doi. 10.1111/cge.13722
By:
- 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.
Publication type:
Article
Auditory function in individuals within Leber's hereditary optic neuropathy pedigrees.
Published in:
Journal of Neurology, 2012, v. 259, n. 3, p. 542, doi. 10.1007/s00415-011-6230-7
By:
- Rance, Gary;
- Kearns, Lisa;
- Tan, Johanna;
- Gravina, Anthony;
- Rosenfeld, Lisa;
- Henley, Lauren;
- Carew, Peter;
- Graydon, Kelley;
- O'Hare, Fleur;
- Mackey, David
Publication type:
Article
The challenge of an adequate outcome in trials for genetic eye disease such as Leber hereditary optic neuropathy.
Published in:
Clinical & Experimental Ophthalmology, 2019, v. 47, n. 6, p. 704, doi. 10.1111/ceo.13586
By:
- Mackey, David A.;
- Kearns, Lisa S.
Publication type:
Article
Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: a review.
Published in:
Clinical & Experimental Ophthalmology, 2015, v. 43, n. 6, p. 578, doi. 10.1111/ceo.12508
By:
- Sanfilippo, Paul G;
- Kearns, Lisa S;
- Wright, Philip;
- Mackey, David A;
- Hewitt, Alex W
Publication type:
Article
Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.
Published in:
Clinical & Experimental Ophthalmology, 2012, v. 40, n. 5, p. 476, doi. 10.1111/j.1442-9071.2012.02804.x
By:
- Edwards, Thomas L;
- Burt, Benjamin O;
- Black, Graeme CM;
- Perveen, Rahat;
- Kearns, Lisa S;
- Staffieri, Sandra E;
- Toomes, Carmel;
- Buttery, Robert G;
- Mackey, David A
Publication type:
Article
Telemedicine model to prevent blindness from familial glaucoma.
Published in:
Clinical & Experimental Ophthalmology, 2011, v. 39, n. 8, p. 760, doi. 10.1111/j.1442-9071.2011.02556.x
By:
- Staffieri, Sandra E;
- Ruddle, Jonathan B;
- Kearns, Lisa S;
- Barbour, Julie M;
- Edwards, Thomas L;
- Paul, Padma;
- Mackey, David A
Publication type:
Article
Prevalence and predictors of refractive error in a genetically isolated population: the Norfolk Island Eye Study.
Published in:
Clinical & Experimental Ophthalmology, 2011, v. 39, n. 8, p. 734, doi. 10.1111/j.1442-9071.2011.02579.x
By:
- Sherwin, Justin C;
- Kelly, John;
- Hewitt, Alex W;
- Kearns, Lisa S;
- Griffiths, Lyn R;
- Mackey, David A
Publication type:
Article
Classification of iris colour: review and refinement of a classification schema.
Published in:
Clinical & Experimental Ophthalmology, 2011, v. 39, n. 5, p. 462, doi. 10.1111/j.1442-9071.2010.02487.x
By:
- Mackey, David A;
- Wilkinson, Colleen H;
- Kearns, Lisa S;
- Hewitt, Alex W
Publication type:
Article
How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania.
Published in:
Clinical & Experimental Ophthalmology, 2007, v. 35, n. 9, p. 793, doi. 10.1111/j.1442-9071.2007.01612.x
By:
- Green, Catherine M.;
- Kearns, Lisa S.;
- Wu, Johnny;
- Barbour, Julie M.;
- Wilkinson, Robyn M.;
- Ring, Maree A.;
- Craig, Jamie E.;
- Wong, Tiffany L.;
- Hewitt, Alex W.;
- MacKey, David A.
Publication type:
Article
Response: Cycloplegia in refraction: age and cycloplegics.
Published in:
Acta Ophthalmologica (1755375X), 2016, v. 94, n. 5, p. e373, doi. 10.1111/aos.13082
By:
- Sanfilippo, Paul G.;
- Chu, Byoung ‐ Sun;
- Bigault, Olivia;
- Kearns, Lisa S.;
- Boon, Mei ‐ Ying;
- Young, Terri L.;
- Hammond, Christopher J.;
- Hewitt, Alex W.;
- Mackey, David A.
Publication type:
Article
Distribution of astigmatism as a function of age in an Australian population.
Published in:
Acta Ophthalmologica (1755375X), 2015, v. 93, n. 5, p. e377, doi. 10.1111/aos.12644
By:
- Sanfilippo, Paul G.;
- Yazar, Seyhan;
- Kearns, Lisa;
- Sherwin, Justin C.;
- Hewitt, Alex W.;
- Mackey, David A.
Publication type:
Article
What is the appropriate age cut-off for cycloplegia in refraction?
Published in:
Acta Ophthalmologica (1755375X), 2014, v. 92, n. 6, p. e458, doi. 10.1111/aos.12388
By:
- Sanfilippo, Paul G.;
- Chu, Byoung ‐ Sun;
- Bigault, Olivia;
- Kearns, Lisa S.;
- Boon, Mei ‐ Ying;
- Young, Terri L.;
- Hammond, Christopher J.;
- Hewitt, Alex W.;
- Mackey, David A.
Publication type:
Article
The association between pterygium and conjunctival ultraviolet autofluorescence: The Norfolk Island Eye Study.
Published in:
Acta Ophthalmologica (1755375X), 2013, v. 91, n. 4, p. 363, doi. 10.1111/j.1755-3768.2011.02314.x
By:
- Sherwin, Justin C.;
- Hewitt, Alex W.;
- Kearns, Lisa S.;
- Griffiths, Lyn R.;
- Mackey, David A.;
- Coroneo, Minas T.
Publication type:
Article
Systemic disease associations of familial and sporadic glaucoma: the Glaucoma Inheritance Study in Tasmania.
Published in:
Acta Ophthalmologica (1755375X), 2010, v. 88, n. 1, p. 70, doi. 10.1111/j.1755-3768.2009.01786.x
By:
- Hewitt, Alex W.;
- Wu, Johnny;
- Green, Catherine M.;
- Tze Lai;
- Kearns, Lisa S.;
- Craig, Jamie E.;
- Mackey, David A.
Publication type:
Article
Assessment of the Operational Characteristics of Research Ethics Committees in Ghana.
Published in:
Journal of Empirical Research on Human Research Ethics, 2022, v. 17, n. 1/2, p. 114, doi. 10.1177/15562646211051189
By:
- Owusu, Samuel Asiedu;
- Addison, Grace;
- Redman, Barbara;
- Kearns, Lisa;
- Amuna, Paul;
- Laar, Amos
Publication type:
Article
Using Telemedicine to Preserve Internal Medicine Residency Continuity Clinic During the COVID-19 Pandemic: Results from a National Survey.
Published in:
JGIM: Journal of General Internal Medicine, 2022, v. 37, n. 9, p. 2327, doi. 10.1007/s11606-022-07508-2
By:
- Kearns, Lisa;
- Dupras, Denise;
- Ortiz, Jordan;
- Catalanotti, Jillian
Publication type:
Article
Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.
Published in:
Genetic Epidemiology, 2015, v. 39, n. 3, p. 207, doi. 10.1002/gepi.21886
By:
- Springelkamp, Henriët;
- Mishra, Aniket;
- Hysi, Pirro G.;
- Gharahkhani, Puya;
- Höhn, René;
- Khor, Chiea ‐ Chuen;
- Cooke Bailey, Jessica N.;
- Luo, Xiaoyan;
- Ramdas, Wishal D.;
- Vithana, Eranga;
- Koh, Victor;
- Yazar, Seyhan;
- Xu, Liang;
- Forward, Hannah;
- Kearns, Lisa S.;
- Amin, Najaf;
- Iglesias, Adriana I.;
- Sim, Kar ‐ Seng;
- Leeuwen, Elisabeth M.;
- Demirkan, Ayse
Publication type:
Article
Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-56121-2
By:
- Britten-Jones, Alexis Ceecee;
- Schultz, Joshua;
- Mack, Heather G.;
- Kearns, Lisa S.;
- Huq, Aamira J.;
- Ruddle, Jonathan B.;
- Mackey, David A.;
- Hewitt, Alex W.;
- Edwards, Thomas L.;
- Ayton, Lauren N.
Publication type:
Article

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