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Office
Children's Hospital of Philadelphia
34th Street and Civic Center Blvd
Philadelphia, PA 19104
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 - 2025
PA State Medical License 2017 - 2024
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
- 45 citationsNovel congenital disorder of O-linked glycosylation caused by GALNT2 loss of functionMonica Zilmer, Andrew C. Edmondson, Sumeet A. Khetarpal, Viola Alesi, Maha S. Zaki
Brain. 2020-04-01 - 2767 citationsBiological, clinical and population relevance of 95 loci for blood lipidsTanya M. Teslovich, Kiran Musunuru, Albert V. Smith, Andrew C. Edmondson, Ioannis M. Stylianou
Nature. 2010-08-05 - 43 citationsIncreased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection–Elect...Jie Chen, Xueli Li, Andrew C. Edmondson, Gail Ditewig Meyers, Kosuke Izumi
Clinical Chemistry. 2019-05-01
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
Other Languages
- Russian
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