Giuliana Giannuzzi

Synergistic role of Alu and core duplicon sequences in driving genomic instability at the disease-associated 16p12.3-p13.11 region

The paper investigates the molecular mechanisms of genomic instability in the 16p12.3-p13.11 region, showing synergistic roles of Alu and LCR16a sequences in driving segmental duplications and rearrangements.

Alpha satellite insertion close to an ancestral centromeric region

The paper reports a de novo alpha satellite DNA insertion near an ancestral centromere, showing it lacks centromeric functionality and does not disrupt genes or methylation.

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

The paper analyzes chromoanagenesis breakpoints in constitutional and cancer cases, finding enrichment in late-replicating chromatin and suggesting similar mechanisms for both.

The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients

The paper investigates how BOLA2 duplication in chromosome 16p11.2 affects iron homeostasis and anemia risk in autism patients, finding associations with anemia and iron deficiency.

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

The paper identifies degron variants in AFF3 causing a multi-system disorder with specific clinical features and demonstrates phenotypic overlap with AFF4-related syndromes.

Intra- and inter-chromosomal chromatin interactions mediate genetic effects on regulatory networks

The paper combines regulatory element activity, gene expression, and genetic variation data across cell types to show how chromatin structure influences regulatory networks and genetic effects.