Selin Everett

This study finds genetic disorders are strongly associated with preterm small for gestational age birth and increased morbidity/mortality in preterm infants.

This study finds that 1.3% of preterm infants have genetic disorders, with higher rates in those who died or had severe morbidity, and identifies specific disorders linked to increased morbidity and mortality.

This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.