Laboratory evaluation of patients with developmental delay/intellectual disability, congenital
anomalies, and dysmorphic features has changed significantly in the last several years with …

Metaplastic breast cancers (MBC) are aggressive, chemoresistant tumors characterized by
lineage plasticity. To advance understanding of their pathogenesis and relatedness to other …

Recently there has been a keen interest in the statistical analysis of change point detec tion
and estimation. Mainly, it is because change point problems can be encountered in many …

Even when conditions are optimal, the maximum chance of a clinically recognized
pregnancy occurring in a given menstrual cycle is 30–40%. Increasing evidence points to …

This study explores the roles of genome copy number abnormalities (CNAs) in breast cancer
pathophysiology by identifying associations between recurrent CNAs, gene expression, and …

Autophagy is a bulk degradation process that promotes survival under metabolic stress, but
it can also be a means of cell death if executed to completion. Monoallelic loss of the …

The sequence of chromosome 21 was a turning point for the understanding of Down
syndrome. Comparative genomics is beginning to identify the functional components of the …

Melanomas are notoriously difficult to classify because of a lack of discrete clinical and
pathological stages. Here, we show that primary uveal melanomas surprisingly cluster into …

The human genome contains numerous blocks of highly homologous duplicated sequence.
This higher-order architecture provides a substrate for recombination and recurrent …

Chromosome aberrations in human solid tumors are hallmarks of gene deregulation and
genome instability. This review summarizes current knowledge regarding aberrations …