Andrew O.M. Wilkie

RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome

This study shows that RAB23 loss-of-function causes context-dependent ciliary dysfunction in Carpenter syndrome, linking it to ciliopathy features in specific cell types.

Whole genome sequencing of mutation-negative individuals with Cornelia de Lange Syndrome

This study uses whole genome sequencing to identify causative variants in mutation-negative Cornelia de Lange Syndrome patients, finding novel genes and regulatory regions involved.

The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

The developing mouse coronal suture at single-cell resolution

This study maps the cellular diversity of the embryonic mouse coronal suture using single-cell transcriptomics, identifying key markers and cell types involved in suture development and fusion.

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.

ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype

This study investigates ATR-16 syndrome, finding that deletion size correlates with severity but no critical region defines the phenotype, and genetic background significantly affects outcomes.

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

The paper identifies 61 novel mutations in the aged human testes, most affecting the RAS-MAPK pathway, showing evidence of selfish selection in the male germline.