Stephanie L. Santoro

Health Supervision for Children and Adolescents With Down Syndrome

Marilyn J. Bull, Tracy L. Trotter, Stephanie L. Santoro et al. · PEDIATRICS · 2022 · 296 citations

Life Sciences, Genetics, Pediatrics +14

Retrospective Study of Obesity in Children with Down Syndrome

Janet S. Basil, Stephanie L. Santoro, Lisa J. Martin et al. · The Journal of Pediatrics · 2016 · 135 citations · Full text

Medicine, Child Health, Pediatrics +14

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders et al. · The American Journal of Human Genetics · 2016 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Opportunities, barriers, and recommendations in Down syndrome research

James A. Hendrix, Angelika Amon, Leonard Abbeduto et al. · Translational Science of Rare Diseases · 2021 · 99 citations · Full text

Medicine, Health Sciences, Clinical Epidemiology +6

A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

Stephen R.F. Twigg, Robert B. Hufnagel, Kerry A. Miller et al. · The American Journal of Human Genetics · 2016 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17