M. Katharine Rudd

TL;DR: In this paper, the authors integrate physical mapping, genetic, and functional approaches, together with sequencing of selected regions, to define the centromere of the human X chromosome and explore the evolution of sequences responsible for chromosome segregation.

TL;DR: This study presents the largest copy number variant case-control study to date comprising 15,749 International Standards for Cytogenomic Arrays cases and 10,118 published controls, focusing on recurrent deletions and duplications involving 14 Copy number variant regions.

TL;DR: This work profiles the genome-wide 5-hmC distribution and correlates it with the genomic profiles of 11 diverse histone modifications and six transcription factors in human ES cells to suggest potential role(s) for 5-HMC in the regulation of specific promoters and enhancers.

TL;DR: A genome-wide analysis of 245 SZ cases and 490 controls finds one 836 kb de novo deletion at chromosome 3q29 that falls within a 1.3-1.6 Mb deletion previously identified in children with intellectual disability and autism, resulting in a statistically significant association with SZ.

TL;DR: The genomic organization of simple and complex constitutional SVs, as well as the molecular mechanisms of their formation are reviewed, including non-allelic homologous recombination between paralogous long interspersed nuclear element (LINE) or human endogenous retrovirus (HERV) repeats as a cause of deletions, duplications, and translocations.