Linda Z. Rossetti

Lipid transport is necessary for neocortical lamination

The paper investigates BLTP1's role in neocortical lamination by analyzing patients and mouse models, finding lipid transport defects cause structural brain abnormalities.

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.

Clinical utility of genetic and genomic testing in the precision diagnosis and management of pediatric patients with kidney and urinary tract diseases

This study evaluates the clinical utility of genetic and genomic testing in pediatric kidney and urinary tract diseases, finding a 49% diagnostic yield and impact on treatment and diagnosis.