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Life (Basel, Switzerland)|March 27, 2025
Insights into <i>CYP1B1</i>-Related Ocular Diseases Through Genetics and Animal StudiesElizabeth M Bolton, Andy Drackley, Antionette L Williams, et al.
Reports (MDPI)|February 20, 2026
Infantile Cataracts Associated with a Homozygous Missense <i>MSMO1</i> Variant-Case Report and Literature ReviewNick Hassas, Andy Drackley, Jelena Ivanisevic, et al.
Clinical Ophthalmology (Auckland, N.Z.)|March 23, 2026
Candidate Genes for Non-Syndromic Pediatric CataractsJennifer L Rossen, Andy Drackley, Allison Goetsch Weisman, et al.
Ophthalmic Genetics|October 8, 2025
Measuring historical variant reclassification in inherited retinal disease and its impact on clinical genetic testingKarly Kern, Adam Gordon, Andy Drackley, et al.
American Journal of Medical Genetics. Part A|April 4, 2024
Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemiaAndy Drackley, Merlene Peter, Pamela Rathbun, et al.
Human Mutation|March 11, 2026
Recognition of a Critical Functional Domain and Improved <i>PHOX2B</i> Missense Variant Interpretation by Utilization of In Silico Prediction ToolsAndy Drackley, Andrew D Skol, Casey M Rand, et al.
American Journal of Ophthalmology|November 16, 2025
Axenfeld-Rieger Syndrome: From Zebrafish Models to Clinical OutcomesBrenda L Bohnsack, Antionette L Williams, Adam Jacobson, et al.
Genes|March 29, 2023
Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital CataractsJennifer L Rossen, Brenda L Bohnsack, Kevin X Zhang, et al.
American Journal of Medical Genetics. Part A|September 4, 2023
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16Andy Drackley, Lenika De Simone, Nancy Kuntz, et al.
Ophthalmic Genetics|January 7, 2025
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicityCharles Miller, Brenda L Bohnsack, Andy Drackley, et al.
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