Undiagnosed Diseases

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Spillmann, R. C., Tan, Q. K.-G., Reuter, C., Schoch, K., Kohler, J., Bonner, D., Zastrow, D., Alkelai, A., Baugh, E., Cope, H., Marwaha, S., Wheeler, M. T., Bernstein, J. A., Shashi, V., Acosta, M. T., Adam, M., Adams, D. R., Alvey, J., Amendola, L., … Zuchner, S. (2023). A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network. Genetics in Medicine, 25(4), 100353. https://doi.org/10.1016/j.gim.2022.12.001
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Columbia Affiliation
Lippa, N., Bier, L., Revah-Politi, A., May, H., Kushary, S., Vena, N., Giordano, J. L., Rasouly, H. M., Cocchi, E., Sands, T. T., Wapner, R. J., Anyane-Yeboa, K., Gharavi, A. G., & Goldstein, D. B. (2022). Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting. Genetics in Medicine, 24(4), 862–869. https://doi.org/10.1016/j.gim.2021.12.010
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