Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.

by Joseph Farris, Barbara Calhoun, Md Suhail Alam, Shaun Lee, Kasturi Haldar
Published 2020-05-01

Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing

by Fang Liu, Barbara Calhoun, Md. Suhail Alam, Miaomiao Sun, Xuechun Wang, Chao Zhang, Kasturi Haldar, Xin Lu
Published 2020-02-01