Publications

Pena, LDM, Jiang, Y-H, Schoch, K, Spillmann, RC, Walley, N, Stong, N, Rapisardo Horn, S, Sullivan, JA, McConkie-Rosell, A, Kansagra, S, Smith, EC, El-Dairi, M, Bellet, J, Keels, MA, Jasien, J, Kranz, PG, Noel, R, Nagaraj, SK, Lark, RK, Wechsler, DSG, Del Gaudio, D, Leung, ML, Hendon, LG, Parker, CC, Jones, KL, Undiagnosed Diseases Network Members, , Goldstein, DB, and Shashi, V. "Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases." Genetics in medicine : official journal of the American College of Medical Genetics 20, no. 4 (April 2018): 464-469.

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