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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.