Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.
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.
