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Children's Hospital of Philadelphia34th Street and Civic Center BlvdPhiladelphia, PA 19104
Dr. Edmondson is on Doximity
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Education & Training
Children's Hospital of PhiladelphiaPost-Doctoral Fellowship, Medical Genetics and Genomics, 2018 - 2020- Children's Hospital of PhiladelphiaFellowship, Clinical Biochemical Genetics, 2017 - 2018
- Children's Hospital of PhiladelphiaResidency, Pediatrics/Medical Genetics and Genomics, 2013 - 2018
- Children's Hospital of PhiladelphiaResidency, Pediatrics, 2013 - 2017
Perelman School of Medicine at the University of PennsylvaniaClass of 2013
Certifications & Licensure
NJ State Medical License 2022 - 2027
PA State Medical License 2017 - 2026
NC State Medical License 2020 - 2022
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Pediatrics Pediatrics- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Start of enrollment: 2012 Sep 01
- Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation Start of enrollment: 2014 Jul 01
- Natural History Study Protocol in PMM2-CDG (CDG-Ia) Start of enrollment: 2018 Jan 08
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Publications & Presentations
PubMed
- Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.Andrew C Edmondson, Tomáš Honzík, Christina Lam, Katrin Õunap, Peter McWilliams
Molecular Genetics and Metabolism. 2025-07-13 - Map of the neuronal O-glycoproteome reveals driver functions in the regulated secretory pathway.Thomas D Madsen, Asli B Topaktas, Leo A Dworkin, John Hintze, Lasse H Hansen
The Journal of Biological Chemistry. 2025-07-01 - Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.Andrew C Edmondson, Rohit Budhraja, Zijie Xia, Ashley Melendez-Perez, Cadmus Cai
Biorxiv. 2025-06-03
Journal Articles
- Correction: “Congenital Hyperinsulinism as the Presenting Feature of Kabuki Syndrome: Clinical and Molecular Characterization of 10 Affected Individuals”Lindsay C Burrage, Sara Halbach, Paul Thornton, Andrew C Edmondson, Alejandro Diaz, Lisa Truong, Darrel Waggoner, Nature
- Congenital Hyperinsulinism as the Presenting Feature of Kabuki Syndrome: Clinical and Molecular Characterization of 10 Affected IndividualsAlejandro Diaz, Darrel Waggoner, Lindsay C Burrage, Sara Halbach, Andrew C Edmondson, Lisa Truong, Paul Thornton, Nature
Press Mentions
New Genetic Marker Identified for Congenital Disorders of GlycosylationJuly 8th, 2021
Grant Support
- Identifying understudied protein-related glycoproteome disruption in Congenital Disorders of GlycosylationCHILDREN'S HOSP OF PHILADELPHIA2023–2025
- O-glycosylation mechanisms of neurological deficits in congenital disorders of glycosylationCHILDREN'S HOSP OF PHILADELPHIA2020–2025
Other Languages
- Russian
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