Meryl Altree

TL;DR: The discovery of GATA2 as a new myelodysplastic syndrome (MDS)-acute myeloid leukemia (AML) predisposition gene is reported and differential effects of the mutations on the transactivation of target genes, cellular differentiation, apoptosis and global gene expression are shown.

TL;DR: This study expands both the mutation and phenotypic spectra observed in families with germ line DDX41 mutations, and shows that most asymptomatic mutation carriers have normal blood counts until malignancy develops.

TL;DR: The proposition that cryptic subtelomeric rearrangements are a significant cause of idiopathic mental retardation/developmental delay is supported, but both the diversity of the phenotypes of the positive cases and the wide diversity of their associated chromosome abnormalities emphasize the central problem for the clinical cytogenetics laboratory-that of choosing the most productive patient base for this useful diagnostic test.

TL;DR: This is the largest aggregation and analysis of germline RUNX1 mutations performed to date, providing a unique opportunity to examine the factors underlying phenotypic differences and disease progression from FPD to MM.

TL;DR: The hypothesis that defects in methionine metabolism may be associated with breast cancer risk in BRCA carriers is supported.