ӳ��ý

Rare Disease

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

Arriaga TM, Mendez R, Ungar RA, et al. Transcriptome-wide outlier approach identifies individuals with minor spliceopathies. American journal of human genetics. 2025. doi:10.1016/j.ajhg.2025.08.018

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