Jenny Andrews

TL;DR: The identification of inactivating mutations in two genes encoding enzymes involved in histone modification and NF2 mutations were found in non-VHL mutated ccRCC, and several other probable cancer genes were identified, indicating that substantial genetic heterogeneity exists in a cancer type dominated by mutations in a single gene.

TL;DR: UTX reintroduction into cancer cells with inactivating UTX mutations resulted in slowing of proliferation and marked transcriptional changes, identifying UTX as a new human cancer gene.

TL;DR: Structural signatures are derived that distinguish between homozygous deletions over recessive cancer genes and fragile sites and illustrate how structural signatures can be used to distinguish between the influences of mutation and selection in cancer genomes.

TL;DR: The coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR) are sequenced, the largest direct screen for constitutional disease-causing mutations thus far reported.

TL;DR: In this paper , the impact of mismatches arising in the primer-template complex has been characterized, with the presence of some mismatch combinations, such as terminal cytosine-thymine and guanine-adenine mismatches being the most detrimental.