Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene.
The hidden genomic landscape of acute myeloid leukemia: subclonal structure revealed by undetected mutations.
INSPEcT: a computational tool to infer mRNA synthesis, processing and degradation dynamics from RNA- and 4sU-seq time course experiments.
LowMACA: exploiting protein family analysis for the identification of rare driver mutations in cancer.
Chimeric anti-staphylococcal enterotoxin B antibodies and lovastatin act synergistically to provide in vivo protection against lethal doses of SEB.
High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.
