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Human Mutation|September 10, 2022
Long-read sequencing for molecular diagnostics in constitutional genetic disordersLaura K Conlin, Erfan Aref-Eshghi, Deborah A McEldrew, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test resultsRamakrishnan Rajagopalan, Melissa A Gilbert, Deborah A McEldrew, et al.Pageof 1