A5102855317- Williams Syndrome Research
- Nuclear Receptors and Signaling
- Congenital heart defects research
- Obesity, Physical Activity, Diet
- Physical Activity and Health
- Child Nutrition and Feeding Issues
- Child Nutrition and Water Access
- Food Security and Health in Diverse Populations
- School Health and Nursing Education
Cincinnati Children's Hospital Medical Center
2024
Medical University of South Carolina
2020-2022
National Heart Lung and Blood Institute
2018-2020
National Institutes of Health
2018-2020
Washington University in St. Louis
2016-2018
Abstract Williams–Beuren syndrome (WBS) is a multisystem disorder caused by hemizygous deletion on 7q11.23 encompassing 26–28 genes. An estimated 2–5% of patients have “atypical” deletions, which extend in the centromeric and/or telomeric direction from WBS critical region. To elucidate clinical differentiators among these types, we evaluated 10 individuals with atypical deletions our cohort and 17 similarly classified previously described literature. Larger either often led to more severe...
Abstract Background Large, multigenic deletions at chromosome 7q11.23 result in a highly penetrant constellation of physical and behavioral symptoms known as Williams–Beuren syndrome ( WS ). Of particular interest is the unusual social‐cognitive profile evidenced by deficits social cognition communication reminiscent autism spectrum disorders ASD ) that are juxtaposed with normal or even relatively enhanced motivation. Interestingly, duplications same region also ‐like phenotypes well...
ABSTRACT BACKGROUND Associations between school participation in an academic medical center‐supported school‐based wellness initiative and programmatic components implemented with change average student body mass index (BMI) over time were examined. METHODS This was observational study of 103 K‐12 South Carolina schools years 2014‐2018, classified as participating (n = 87 schools, 27,855 students) or non‐participating 16 schools; 3608 students). students' BMI z‐score (BMIz) evaluated by...