Emrick, Lisa

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesMetabolism and Genetic Disorders

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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27

The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics

Zhao, S., Sinson, J. C., Li, S., Rosenfeld, J. A., Zapata, G., Macakova, K., Pena, M., Maywald, B., Worley, K. C., Burrage, L. C., et al. (2025) · The American Journal of Human Genetics

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 5