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Pediatric Nephrology (Berlin, Germany)|August 29, 2023
Ocular manifestations of renal ciliopathiesOmar Salehi, Heather Mack, Deb Colville, et al.Ophthalmic Genetics|September 13, 2023
Ocular manifestations of the genetic renal tubulopathiesGeFei Yang, Heather Mack, Philip Harraka, et al.Clinical Kidney Journal|September 3, 2021
Gitelman syndrome and ectopic calcification in the retina and jointsYeji Ham, Heather Mack, Deb Colville, et al.Investigative Ophthalmology & Visual Science|August 29, 2025
Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal DatabaseRahman Abdul, Xiaoyi Liu, Kirsty Choi, et al.Pediatric Nephrology (Berlin, Germany)|August 14, 2023
Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosisVictor Zhu, Tess Huang, David Wang, et al.Scientific Reports|May 15, 2026
Monogenic kidney disease and monogenic diabetes are present in renal clinic patients with non-genetic diagnosesMary Huang, Timothy Pianta, David Barit, et al.Ophthalmic Genetics|March 12, 2020
Corneal endothelial cell abnormalities in X-linked Alport syndromeEleanor Nicklason, Heather Mack, Jacqueline Beltz, et al.Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|July 7, 2018
Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red FibersRaymond P Najjar, Pascal Reynier, Angélique Caignard, et al.Ophthalmic Genetics|August 4, 2016
Bull's eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch's membrane in Alport syndromeJudy Savige, Yanyan Wang, Andrew Crawford, et al.Pageof 2