Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma AA Lahola-Chomiak, T Footz, K Nguyen-Phuoc, GJ Neil, B Fan, KF Allen, ... Human molecular genetics 28 (8), 1298-1311, 2019 | 37 | 2019 |
Molecular genetics of pigment dispersion syndrome and pigmentary glaucoma: new insights into mechanisms AA Lahola-Chomiak, MA Walter Journal of ophthalmology 2018, 2018 | 19 | 2018 |
Involvement of a G Protein Regulatory Circuit in Alternative Oxidase Production in Neurospora crassa N Bosnjak, KM Smith, I Asaria, A Lahola-Chomiak, N Kishore, AT Todd, ... G3: Genes, Genomes, Genetics 9 (10), 3453-3465, 2019 | 7 | 2019 |
Non-Synonymous Variants in the Premelanosome Protein (PMEL) Gene are Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Cause Biochemical Defects A Lahola-Chomiak | 1 | 2018 |
Dissecting the Role of the Premelanosome Protein Gene (PMEL) in the Development of Pigmentary Glaucoma Using the Zebrafish Animal Model K Nguyen-Phuoc, G Neil, T Footz, A Lahola-Chomiak, OJ Lehmann, ... Investigative Ophthalmology & Visual Science 59 (9), 5156-5156, 2018 | | 2018 |
Targeted next generation amplicon sequencing for candidate genes of Pigment Dispersion Syndrome and Pigmentary Glaucoma T Footz, A Lahola-Chomiak, OJ Lehmann, JL Wiggs, MA Walter Investigative Ophthalmology & Visual Science 59 (9), 5140-5140, 2018 | | 2018 |
Pigment Dispersion Syndrome and Pigmentary Glaucoma Associated Variants in Premelanosome Protein (PMEL) Cause Protein Processing and Fibrillogenesis Defects A Lahola-Chomiak, B Fan, T Footz, DS Greenfield, R Ritch, JE Craig, ... Investigative Ophthalmology & Visual Science 59 (9), 3020-3020, 2018 | | 2018 |
Genetic Etiology of Pigmentary Dispersion Syndrome/Pigmentary Glaucoma AA Lahola-Chomiak, T Footz, TK Nguyen-Phuoc, OJ Lehmann, MA Walter Investigative Ophthalmology & Visual Science 58 (8), 2131-2131, 2017 | | 2017 |