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.DOI Google Scholar PubMed

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.DOI Google Scholar PubMed