Andrew D. Simmons

TL;DR: A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia was identified by positional cloning on chromosome 11q22-23 and encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3' kinases that are involved in mitogenic signal transduction, meiotic recombination, and cell cycle control.

TL;DR: The EXT2-GalNAc-T5 interaction provides the first direct physical link between EXT proteins and known components of glycosamino-glycan synthesis, indicating that they are important in the etiology of HME.

TL;DR: Two new members of serine/threonine kinases, STK1 and STK2, from a cDNA library constructed from the BT-20 human breast cancer cell line show a variable pattern of expression among a series of primary carcinomas as well as cancer cell lines.

TL;DR: Separable regulatory elements that direct ngn2 expression to distinct neural progenitor populations have been defined and persistent -gal activity revealed that the NGN2 progensitor cells in the dorsal domain give rise to a subset of interneurons that send their axons to the floor plate, and the Ngn2 progenitors in the ventral domain give Rise of motor neurons.

TL;DR: The known functions of semaphorins and the interesting pattern of expression for Semaf suggest that haploinsufficiency for SEMAF may disrupt normal brain development and might lead to some of the features of Cri-du-chat.