1. A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae. (3rd September 2022) Authors: Thananjeyan, Akshaya L.; Karaconji, Tanya; Flaherty, Maree; Zagora, Sophia; Jamieson, Robyn V.; Grigg, John R. B. Journal: Ophthalmic genetics Issue: Volume 43:Number 5(2022) Page Start: 709 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. (9th December 2015) Authors: Guo, Yiran; Prokudin, Ivan; Yu, Cong; Liang, Jinlong; Xie, Yi; Flaherty, Maree; Tian, Lifeng; Crofts, Stephanie; Wang, Fengxiang; Snyder, James; Donaldson, Craig; Abdel-Magid, Nada; Vazquez, Lyam; Keating, Brendan; Hakonarson, Hakon; Wang, Jun; Jamieson, Robyn V. Journal: Ophthalmic genetics Issue: Volume 36:Number 4(2015:Dec.) Page Start: 333 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis. (March 2015) Authors: Ashworth, Jane; Flaherty, Maree; Pitz, Susanne; Ramlee, Azura Journal: Acta ophthalmologica Issue: Volume 93:Number 2(2015) Page Start: e111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genome sequencing in congenital cataracts improves diagnostic yield. Issue 9 (15th June 2021) Authors: Ma, Alan; Grigg, John R.; Flaherty, Maree; Smith, James; Minoche, Andre E.; Cowley, Mark J.; Nash, Benjamin M.; Ho, Gladys; Gayagay, Thet; Lai, Tiffany; Farnsworth, Elizabeth; Hackett, Emma L.; Slater, Katrina; Wong, Karen; Holman, Katherine J.; Jenkins, Gemma; Cheng, Anson; Martin, Frank; Brown,... Journal: Human mutation Issue: Volume 42:Issue 9(2021) Page Start: 1173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. NFB-09. ENROLLMENT AND CLINICAL CHARACTERISTICS OF NEWLY DIAGNOSED, NEUROFIBROMATOSIS TYPE 1 ASSOCIATED OPTIC PATHWAY GLIOMA (NF1-OPG): PRELIMINARY RESULTS FROM AN INTERNATIONAL MULTI-CENTER NATURAL HISTORY STUDY. (4th December 2020) Authors: Fisher, Michael J; Liu, Grant T; Ferner, Rosalie E; Gutmann, David H; Listernick, Robert; de Blank, Peter; Zeid, Janice; Ullrich, Nicole J; Heidary, Gena; Bornhorst, Miriam; Stasheff, Steven F; Rosser, Tena; Borchert, Mark; Ardern-Holmes, Simone; Flaherty, Maree; Hummel, Trent R; Motley, W Walker... Journal: Neuro-oncology Issue: Volume 22(2020)Supplement 3 Page Start: iii419 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Ocular and electrophysiological findings in a patient with Sly syndrome. (4th July 2017) Authors: Flaherty, Maree; Geering, Katie; Crofts, Stephanie; Grigg, John Journal: Ophthalmic genetics Issue: Volume 38:Number 4(2017) Page Start: 376 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing. Issue 4 (14th January 2016) Authors: 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. Journal: Human mutation Issue: Volume 37:Issue 4(2016) Page Start: 371 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Towards a national pre‐school vision screening programme. (28th April 2022) Authors: Crippa, Jessica; Flaherty, Maree; Silveira, Sue Journal: Journal of paediatrics and child health Issue: Volume 58:Number 6(2022) Page Start: 948 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗