Lee KAV, Langholm C, Lin T, Jin K, Aboobakar IF, Oke I, Whitman MC. Amblyopia and adult health: a comprehensive analysis of long-term systemic, sensory and mental health comorbidities in a national cohort. Br J Ophthalmol. 2026 Jan 27. PMID: 41592945; PMCID: PMC13051340
Viola Lee KA, Whitman MC. Rare and Common Genomic Copy Number Variants Associated with Strabismus and Amblyopia in the All of Us Research Program. medRxiv. 2025 Nov 06. PMID: 41282942; PMCID: PMC12637776.
Martinez Sanchez M, Meher N, DeBruyn H, Jain A, Sun L, Gulkas S, Altschwager P, Fulton A, Whitman MC. Novel structural variant in CACNA1F causing congenital stationary night blindness identified with whole genome sequencing. Ophthalmic Genet. 2025 Dec; 46(6):692-696. PMID: 40744901; PMCID: PMC12569788.
Vemula S, Osman A, Yang X, Aronchik G, Martinez Sanchez M, Meher N, Whitman MC. Disrupted Motor Neuron and Neuromuscular Junction Development in an Albino Mice Model of Infantile Nystagmus. Invest Ophthalmol Vis Sci. 2025 Jul 01; 66(9):25. PMID: 40637510; PMCID: PMC12255187.
Webb BD, Jurgens JA, Narisu N, Zhang Z, Barry BJ, Van Ryzin C, Bonnycastle LL, Chan WM, Yan T, Di Gioia SA, Swift AJ, MacKinnon SE, Oystreck DT, Rucker JC, Frempong T, Whitman MC, FitzGibbon EJ, Lee JS, Hao K, Andrews C, Erazo M, Facio FM, Shaaban S, Naidich TP, Chines PS, Lehky TJ, Toro C, Gropman AL, Butman JA, Zalewski CK, Brewer CC, Thurm A, Snow J, Paul SM, Brooks BP, Pierpaoli C, Robson CD, Hunter DG, Collins FS, Jabs EW, Engle EC, Manoli I. Systematic phenotype and genotype characterization of Moebius syndrome. Genet Med Open. 2025; 3:103437. PMID: 40662098; PMCID: PMC12256340.
Jurgens JA, Matos Ruiz PM, King J, Foster EE, Berube L, Chan WM, Barry BJ, Jeong R, Rothman E, Whitman MC, MacKinnon S, Rivera-Quiles C, Pratt BM, Easterbrooks T, Mensching FM, Di Gioia SA, Pais L, England EM, de Berardinis T, Magli A, Koc F, Asakawa K, Kawakami K, O'Donnell-Luria A, Hunter DG, Robson CD, Bulyk ML, Engle EC. Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays. Invest Ophthalmol Vis Sci. 2025 Mar 03; 66(3):62. PMID: 40162949; PMCID: PMC11956743.
Kilic S, Bove J, So BN, Whitman MC. Strabismus in Genetic Syndromes: A Review. Clin Exp Ophthalmol. 2025 Apr; 53(3):302-330. PMID: 39948700; PMCID: PMC12684813.
Lee KAV, Aboobakar IF, Jain A, Tesdahl CD, Jin K, Oke I, Whitman MC. Genome-Wide and Rare Variant Association Studies of Amblyopia in the All of Us Research Program. Ophthalmology. 2025 Jul; 132(7):758-766. PMID: 39842729; PMCID: PMC12182994.
Martinez-Sanchez M, Skarnes W, Jain A, Vemula S, Sun L, Rockowitz S, Whitman MC. Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons. Genes (Basel). 2025 Jan 12; 16(1). PMID: 39858627; PMCID: PMC11764630.