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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)

Publication: Journal Article
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"

Publication: Journal Article
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.

Sara Gallant, MD

Person: Instructor in Otolaryngology–Head and Neck Surgery, Harvard Medical School, Associate, Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital
Dr. Sara Gallant is an Associate in the Department of Otolaryngology and Communication Enhancement at Boston Children's Hospital. She is board-certified in otolaryngology–head and neck surgery. Her clinical and research interests include vascular anomalies of the head and neck, pediatric drooling...