Kevin S. Smith

TL;DR: A mathematical expression is derived to compute PrediXcan results using summary data, and the effects of gene expression variation on human phenotypes in 44 GTEx tissues and >100 phenotypes are investigated.

TL;DR: It is demonstrated here that oncogenic MLL fusion proteins retain an ability to stably associate with menin through a high-affinity, amino-terminal, conserved binding motif and that this interaction is required for the initiation of MLL-mediated leukemogenesis.

TL;DR: 2 new monoclonal antibodies against DOG1 (DOG1.1 and DOG 1.1.3) are described and compared with KIT and CD34 antibodies on 447 cases of GIST and both showed high sensitivity and specificity for GIST.

TL;DR: In contrast to its previously characterized roles in suppression of neoplasia-associated signalling pathways, GSK3 paradoxically supports MLL leukaemia cell proliferation and transformation by a mechanism that ultimately involves destabilization of the cyclin-dependent kinase inhibitor p27Kip1.

TL;DR: The transcriptome effects of protein-truncating variants, a class of variants expected to have profound effects on gene function, are characterized using data from the Genotype-Tissue Expression (GTEx) and Geuvadis projects to illustrate the value of transcriptome data in the functional interpretation of genetic variants.