Christopher Barnett

The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.

This study shows that circular RNAs accumulate in aged human placental tissue and in stillbirth cases, causing DNA damage and cellular senescence, and suggests they could be used for stillbirth risk screening.

The paper identifies ABI2 missense variants linked to neurodevelopmental disorders with intellectual disability, epilepsy, and brain malformations through exome sequencing.

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 paper investigates SETBP1 variants outside the degron, showing they cause a heterogeneous neurodevelopmental disorder through loss-of-function mechanisms independent of protein abundance.

The paper identifies two new risk genes for idiopathic pulmonary arterial hypertension through exome sequencing of 2,572 individuals.