Shlomit Gilad

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 standardized diagnostic assay presented here can provide highly accurate subclassification of NSCLC patients and identify hsa-miR-205 as a highly specific marker for squamous cell lung carcinoma.

TL;DR: Of 44 A-T mutations identified by us to date, 39 (89%) are expected to inactivate the ATM protein by truncating it, by abolishing correct initiation or termination of translation, or by deleting large segments.

TL;DR: This study demonstrates disruption of both ATM alleles by deletion or point mutation in T-PLL, suggesting that ATM functions as a tumor-suppressor gene in tumors of non-AT individuals.

TL;DR: It is concluded that certain "A-T variant" phenotypes represent ATM mutations, including some of those without telangiectasia, which extends the range of phenotypes associated with ATM mutations.