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Rare Disease

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
O'Grady GL, Lek M, Lamande SR, et al. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Ann Neurol. 2016;80(1):101-11. doi:10.1002/ana.24687.
Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.
Brastianos PK, Taylor-Weiner A, Manley PE, et al. Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas. Nat Genet. 2014;46(2):161-5. doi:10.1038/ng.2868.