Publications by authors named "Heather Mack"

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Inherited Retinal Disease or Age-Related Macular Degeneration: Predictive Value of Genetic Testing in Macular Disease With Atypical Atrophy.
Alexis Ceecee Britten-Jones, Fred K Chen, Heather G Mack, Maria Kolic, Janise Hermawan

Clin Exp Ophthalmol· October 2025

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A rescue fanconi anemia humanized mouse model with endogenous FA mutation and high human hematopoietic stem cell chimerism.
Seunga Choo, Alvin H Tong, Emily Fields, Heather M Mack, Olivier Humbert

Mol Ther Methods Clin Dev· September 2025

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Retinal Gene Therapy: Perceptions of Ophthalmologists in Australia and New Zealand.
John O T Britton, Heather G Mack, Andrea L Vincent, Lisa J Hill, Thomas L Edwards

Clin Exp Ophthalmol· August 2025

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Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.
Rahman Abdul, Xiaoyi Liu, Kirsty Choi, Mary Huang, Heather Mack

Invest Ophthalmol Vis Sci· August 2025

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Forty-year odyssey to Refsum disease diagnosis: impact of diagnostic delay on effective treatment.
Parker Truong, Heather G Mack, Andrew B Metha, Nelofar Deen, Doron G Hickey

Clin Exp Optom· July 2025

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Real-World Engagement with Free Genotyping by Patients with Inherited Retinal Disease in a Single Private Retinal Centre in Australia.
Lewis E Fry, Alexis Ceecee Britten-Jones, Sena A Gocuk, Lauren N Ayton, Heather G Mack

Semin Ophthalmol· June 2025

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Retrospective audit reviewing accuracy of clinical diagnosis of geographic atrophy in a single centre private tertiary retinal practice in Australia.
Demi Markakis, Alexis Ceecee Britten-Jones, Robyn H Guymer, Thomas L Edwards, Anthony J Hall, Heather G Mack

Sci Rep· March 2025

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THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited Retinal Disease.
Matthew P Simunovic, Anthony T Moore, John Grigg, Panagiotis Sergouniotis, Omar A Mahroo, Heather Mack

Retina· February 2025

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EQ-5D-5L health utility scores in Australian adults with inherited retinal diseases: A cross-sectional survey.
Myra B McGuinness, Lauren N Ayton, Deborah Schofield, Alexis Ceecee Britten-Jones, Fred K Chen, Heather G Mack

Acta Ophthalmol· August 2024

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Syndromic PRD: case report of McArdle retinopathy and review of literature.
Rahman Abdul, Timothy Fazio, Judy Savige, Heather G Mack

Can J Ophthalmol· August 2024

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Skin fragility disorder misdiagnosed as child abuse: a cautionary tale.
Heather G Mack, Fred K Chen, John R Grigg

Med J Aust· August 2024

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Ocular manifestations of renal ciliopathies.
Omar Salehi, Heather Mack, Deb Colville, Debbie Lewis, Judy Savige

Pediatr Nephrol· May 2024

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A multinational survey of potential participant perspectives on ocular gene therapy.
Alexis Ceecee Britten-Jones, Myra B McGuinness, Fred K Chen, John R Grigg, Heather G Mack

Gene Ther· May 2024

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Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis.
Victor Zhu, Tess Huang, David Wang, Deb Colville, Heather Mack

Pediatr Nephrol· March 2024

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Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.
Alexis Ceecee Britten-Jones, Joshua Schultz, Heather G Mack, Lisa S Kearns, Aamira J Huq, David A Mackey

Sci Rep· March 2024

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Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT).
James Virth, Heather G Mack, Deb Colville, Emma Crockett, Judy Savige

Pediatr Nephrol· February 2024

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Choosing the right mouse model: comparison of humanized NSG and NBSGW mice for in vivo HSC gene therapy.
Seunga Choo, Carl B Wolf, Heather M Mack, Mitchell J Egan, Hans-Peter Kiem

Blood Adv· February 2024

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Reply: Stroke-like episode of the optic nerve.
Heather G Mack, Dan Milea, Dominic Thyagarajan, Xavier Fagan

Can J Ophthalmol· February 2024

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Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand.
Alexis Ceecee Britten-Jones, Heather G Mack, Andrea L Vincent, Lisa J Hill, Thomas L Edwards

Clin Genet· January 2024

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Drusen and Other Retinal Findings in People With IgA Glomerulonephritis.
Ursula Greferath, Erica Fletcher, Judy Savige, Heather G Mack

Am J Ophthalmol· January 2024

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Online Faculty Development on Curriculum Design in Simulation-based Education by International Collaboration - An Example from the Democratic Republic of the Congo.
Helena P Filipe, Karl Golnik, Amelia C Geary, Janvier Kilangalanga, Heather G Mack

Middle East Afr J Ophthalmol· January 2024

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Ocular manifestations of the genetic renal tubulopathies.
GeFei Yang, Heather Mack, Philip Harraka, Deb Colville, Judy Savige

Ophthalmic Genet· December 2023

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A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review.
Kieran Gooley, Peter Williams, Heather Mack, Victor Zhu, David Langsford

Ophthalmic Genet· October 2023

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Characterising the diagnosis of genetic maculopathies in a real-world private tertiary retinal practice in Australia: protocol for a retrospective clinical audit.
Alexis Ceecee Britten-Jones, Demi Markakis, Robyn H Guymer, Ming-Lee Lin, Simon Skalicky, Heather G Mack

Ann Med· August 2023

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Faculty Development of CPD Teachers in Low-Resource Environments Post-COVID-19.
Heather Mack, Karl Golnik, Helena Prior Filipe

J CME· January 2023

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