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Eldomery MK, Coban-Akdemir Z, Harel T, et al. "Lessons learned from additional research analyses of unsolved clinical exome cases." Genome Med. 2017;9(1):26.
Evans DM, Brion MJo A, Paternoster L, et al. "Mining the human phenome using allelic scores that index biological intermediates." PLoS Genet. 2013;9(10):e1003919.