Browsing CERCA by Author "Sadowska, Kati"

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Can These Mutations Lead to Blindness? : Analyzing the Effects of Genetic Variants of Uncertain Significance

Leavens, Caterra; Sadowska, Kati; Reither, Daniel; Gingerich, Jamie Lyman; Gingerich, Derek J. (2021-04)

Genetic testing involves examining a patient's DNA sequence to look for changes (mutations) in the DNA that can potentially cause disease or illness. While some of the changes are benign, many have not yet been characterized ...
Seeking Answers for Ocular Disease : Characterizing Intronic Variants of Uncertain Significance

Leavens, Caterra M.; Sadowska, Kati; Reither, Daniel (2022-04)

A diagnostic odyssey is the process of determining a correct medical diagnosis after symptom onset or disease recognition. Unfortunately, the path to diagnosis is frequently not linear and often involves set-backs, changes ...