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The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)

Zampaglione, Erin, Matthew Maher, Emily Place, Naomi Wagner, Stephanie DiTroia, Katherine Chao, Eleina England, et al. 2022. “The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort With the Mendelian Analysis Toolkit (MATK)”. Genet Med 24 (2): 332-43.

Authors' response: Lam D, Blah TR, Francis IC. Letter to the Editor regarding the publication: "The clinical and pathogenic spectrum of surgically-induced scleral necrosis"

Ruiz-Lozano, Raul, Lucas Garza-Garza, Osvaldo Davila-Cavazos, Stephen Foster, and Alejandro Rodriguez-Garcia. 2022. “Authors’ Response: Lam D, Blah TR, Francis IC. Letter to the Editor Regarding the Publication: ‘The Clinical and Pathogenic Spectrum of Surgically-Induced Scleral Necrosis’”. Surv Ophthalmol 67 (6): 1738-40.

2022 AUPO Annual Meeting

Harvard Ophthalmology was well represented at the Association of University Professors of Ophthalmology (AUPO) annual meeting last month. Chair Joan W. Miller, MD, the President-elect of AUPO, served as Program Committee Chair for the five-day event. Alice Lorch, MD, MPH, Assistant Professor of...