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Office
4401 Penn Ave
# Faculty
Pittsburgh, PA 15224Phone+1 412-692-7566
Summary
- Dr. Sarah Drewes, MD is a medical geneticist in Pittsburgh, Pennsylvania.
Publications & Presentations
PubMed
- 8 citationsBi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela
Brain. 2022-11-21 - 7 citationsA familial case of CAMK2B mutation with variable expressivity.Paige Heiman, Sarah Drewes, Lina Ghaloul-Gonzalez
SAGE Open Medical Case Reports. 2021-02-01 - 3 citationsSLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.Arthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati
Brain. 2023-12-01
