1. Harmatz, P., , A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease. 2018. 123(4): p. 488-494.
2. Zhao, M. and D.-Q.J.I.S.C.L.S. Wei, Rare diseases: Drug discovery and informatics resource. 2018. 10: p. 195-204.
3. Breyer, M.D. and M.J.E.O.o.D.D. Kretzler, Novel avenues for drug discovery in diabetic kidney disease. 2018. 13(1): p. 65-74.
4. Sabarinathan, R., , Transcriptome-wide analysis of UTRs in non-small cell lung cancer reveals cancer-related genes with SNV-induced changes on RNA secondary structure and miRNA target sites. 2014. 9(1): p. e82699.
5. Kulshreshtha, S., , Computational approaches for predicting mutant protein stability. 2016. 30: p. 401-412.