Intellectual disability syndrome associated with a homozygous founder variant in in Ashkenazi Jews.

Background: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to NDDs. However, the involvement of SGSM (small G protein signalling modulator), another member of the RAS family, in NDDs has not been previously documented.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Purpose: Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort.

Cross-sectional study of hepatitis B antibody status in health care workers immunized as children at an academic medical center in Wisconsin.

Individuals who received the hepatitis B vaccine series as young children are entering the healthcare workforce. Our study measured the persistence of antibody to the hepatitis B surface antigen (anti-HBs) at time of employment. Among 986 individuals born in 1991 or more recently with documentation of completion of the hepatitis B vaccine series, 51% had anti-HBs < 10mIU/ml.