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Stephanie Santoro

Physician · Massachusetts General Hospital

Credentials: · · · · ·

History

Massachusetts General Hospital
Present

Medical Genetics and Genomics
Cincinnati Children's Hospital Medical Center
2012–2014
Pediatrics
Cincinnati Children's Hospital Medical Center
2009–2012
University of Cincinnati College of Medicine
2005–2009

Research

Health Supervision for Children and Adolescents With Down Syndrome
PEDIATRICS · 2022 · 229 citations
Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines
Systematic review or meta-analysis · American Journal of Medical Genetics Part A · 2018 · 129 citations
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
The American Journal of Human Genetics · 2016 · 92 citations

Brian Skotko
33 papers
Nicolas Oreskovic
19 papers
KK
Kavita Krell
15 papers · 4 as a resident
Priya Kishnani
9 papers · 1 as a resident
Brian Chicoine
8 papers
George Capone
7 papers
Kishore Vellody
7 papers
Robert Hopkin
7 papers
Andrew McCormick
6 papers
Clifford Cua
6 papers
NB
Nicole Baumer
6 papers
Jonathan Santoro
5 papers