Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

Bastarache, L., Hughey, J. J., Hebbring, S., Marlo, J., Zhao, W., Ho, W. T., Van Driest, S. L., McGregor, T. L., Mosley, J. D., Wells, Q. S., Temple, M., Ramirez, A. H., Carroll, R., Osterman, T., Edwards, T., Ruderfer, D., Velez Edwards, D. R., Hamid, R., Cogan, J., Glazer, A., Wei, W.-Q., Feng, Q., Brilliant, M., Zhao, Z. J., Cox, N. J., Roden, D. M., Denny, J. C.
American Association for the Advancement of Science (AAAS)
Published 2018