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SM

Sophia Masi

Pediatrics

Credentials: · · ·

History

Child Neurology
University of Washington School of Medicine
2020–2025
Doctor of Medicine
2016–2020

Research

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy
Case report · Neurology · 2012 · 172 citations
Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types…
Clinical Chemistry · 2015 · 56 citations
Specific Substrate for the Assay of Lysosomal Acid Lipase
Clinical Chemistry · 2018 · First of 5 authors · 18 citations

CS
C. Ronald Scott
3 papers
AJ
Agnes Jani-Acsadi
1 paper
AP
Alan Pestronk
1 paper
Lindsay Robell
1 paper
Matthew Harms
1 paper
Michael Shy
1 paper
Muhammad Al-Lozi
1 paper
Robert Baloh
1 paper

Grants

Novel Dried Blood Spot Mass Spectrometry Functional Assays for Lysosomal Acid Lipase and N-Acetylgalactosamine-Sulfate Sulfatases for Use in Newborn Screening
National Institute of Child Health and Human Development · F30
Contact PI · $194.8K · University of Washington
2015–2019