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Office
2200 Childrens Way
Nashville, TN 37232Phone+1 615-936-1000
Publications & Presentations
PubMed
- 2 citationsUndiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.Kimberly M Ezell, Rory J Tinker, Yutaka Furuta, Alican Gulsevin, Lisa Bastarache
American Journal of Medical Genetics. Part A. 2024-07-01 - 2 citationsData from electronic healthcare records expand our understanding of X-linked genetic diseases.Rory J Tinker, Lisa Bastarache, Kimberly Ezell, Serena M Neumann, Yutaka Furuta
American Journal of Medical Genetics. Part A. 2024-05-01 - 1 citationsA medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase defi...Yutaka Furuta, Erica T Nelson, Serena M Neumann, John A Phillips 3rd, Rizwan Hamid
American Journal of Medical Genetics. Part A. 2023-12-01
