Phenotype and genotype of patients with autosomal recessive bestrophinopathy IM MacDonald, HV Gudiseva, A Villanueva, M Greve, R Caruso, ... Ophthalmic genetics 33 (3), 123-129, 2012 | 43 | 2012 |
Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 A Villanueva, JR Willer, J Bryois, ET Dermitzakis, N Katsanis, EE Davis Investigative ophthalmology & visual science 55 (4), 2121-2129, 2014 | 31 | 2014 |
Utility of in vitro mutagenesis of RPE65 protein for verification of mutational pathogenicity before gene therapy U Yang, S Gentleman, X Gai, MB Gorin, MS Borchert, TC Lee, ... JAMA ophthalmology 137 (12), 1381-1388, 2019 | 17 | 2019 |
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis P Biswas, AL Villanueva, A Soto-Hermida, JL Duncan, H Matsui, ... PLoS genetics 17 (10), e1009848, 2021 | 13 | 2021 |
Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants P Biswas, A Villanueva, BJ Krajacich, J Moreno, J Zhao, AM Berry, ... medRxiv, 2022.12. 27.22283803, 2022 | 3 | 2022 |
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy. MD Unikora Yang, PD Susan Gentleman, PD Xiaowu Gai, ... https://jamanetwork.com/journals/jamaophthalmology/article-abstract/2752219, 2019 | | 2019 |
RPE65 Variation RPE65 pG140E, c419G> A, First case presentation A Villanueva J Gene Ther 4 (1), 2, 2019 | | 2019 |
Deciphering the genetic architecture of IRD by integrated analysis of 425 whole genomes R Ayyagari, P Biswas, AS Hermida, KE Branham, H Matsui, AL Villanueva, ... Investigative Ophthalmology & Visual Science 59 (9), 4468-4468, 2018 | | 2018 |
Retinal Dystrophy New Early Signs Detection Towards Vision Improvement: A Case Presentation A Villanueva, K Marshall, D Chung, R Ayyagari, AM Maguire J Mol Genet Med 12 (371), 1747-0862.1000371, 2018 | | 2018 |
ARRP microarray and Exome analysis revealed known and novel mutations in Mexican pedigrees. AL Villanueva, M Langlois, I Mongrain, S Provost, G Asselin, MP Dubé, ... Investigative Ophthalmology & Visual Science 56 (7), 2866-2866, 2015 | | 2015 |
Phenotype-Genotype Correlation in Patients With Retinal Degenerations HV Gudiseva, RG Weleber, K Branham, A Villanueva, NB Stover, M Greve, ... Investigative Ophthalmology & Visual Science 50 (13), 4113-4113, 2009 | | 2009 |
Molecular Basis of Disease in Patients With Retinal Dystrophies HV Gudiseva, AJ Karoukis, R Aatre-Kesavamurthy, RC Caruso, ... Investigative Ophthalmology & Visual Science 49 (13), 2166-2166, 2008 | | 2008 |
Structural and Functional Correlates of Macular Laser Photocoagulation in Diabetic Maculopathy AL Villanueva, S Sivaprasad, E Rechtman, M Neveu, L Henderson, ... Investigative Ophthalmology & Visual Science 47 (13), 3861-3861, 2006 | | 2006 |
Virtual Ophthalmologist in Diabetes Screening AL Villanueva Investigative Ophthalmology & Visual Science 43 (13), 547-547, 2002 | | 2002 |
Central retinal vein occlusion in patients on coumadin therapy. AL Villanueva, S Khan, M Blostein, JC Chen INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 41 (4), S644-S644, 2000 | | 2000 |
Sutureless scleral buckling operation. JC Chen, A Villanueva INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 41 (4), S660-S660, 2000 | | 2000 |