Gerald Goh

TL;DR: A genome-wide analysis of rare copy-number variation in 1124 autism spectrum disorder families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling, finds significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome.

TL;DR: In this article, the authors characterized the mutational landscape of melanoma, the form of skin cancer with the highest mortality rate, by sequencing the exomes of 147 melanomas and found that sun-exposed melanomas had markedly more ultraviolet-like C>T somatic mutations compared to sun-shielded acral, mucosal and uveal melanomas.

TL;DR: De novo germline mutations at identical positions in two children with a previously undescribed syndrome featuring primary aldosteronism and neuromuscular abnormalities are identified and implicate gain-of-function Ca2+ channel mutations in APAs and primary a Aldosterone-producing adenomas.

TL;DR: The results implicate mutations in 17 genes in CTCL pathogenesis, including genes involved in T cell activation and apoptosis, NF-κB signaling, chromatin remodeling and DNA damage response, which have implications for new therapeutics.

TL;DR: Use of an anti‐CD25 antibody with enhanced binding to activating Fc&ggr;Rs led to effective depletion of tumor‐infiltrating Treg cells, increased effector to Treg cell ratios, and improved control of established tumors.