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Stephanie Sacharow

Director, Medical Biochemical Genetics Fellowship Program · Boston Childrens Hospital

Credentials: · · · · · ·

History

Medical Biochemical Genetics Fellowship Program · Boston Childrens Hospital
Present

Medical Genetics and Genomics
Jackson Memorial Hospital
2006–2007
Pediatrics
Jackson Memorial Hospital
2002–2003
Leonard M. Miller School of Medicine
1998–2002

Research

Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study
Nature Metabolism · 2021 · 128 citations
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization
Human Mutation · 2007 · 97 citations
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Case report · The American Journal of Human Genetics · 2017 · 87 citations

JT
Janet Thomas
8 papers
Nicola Longo
8 papers
CH
Cary Harding
7 papers
SH
Suzanne Hollander
7 papers
Harvey Levy
6 papers
Deborah Barbouth
5 papers
DM
Deqiong Ma
5 papers · 1 as a resident
Erika Vucko
5 papers
Jerry Vockley
5 papers
Melissa Lah
5 papers
Amarilis Sanchez-Valle
4 papers
Amy Kritzer
4 papers

Clinical trials

PheCheck™ Validation Study
Site PI · Recruiting
Aptatek BioSciences, Inc
2026–2027