Education and Training
MD/PhD - University of Pennsylvania, Philadelphia, PA
Pediatrics/Genetics - Children’s Hospital of Philadelphia, Philadelphia, PA
Post-doctoral Research Fellow - Children’s Hospital of Philadelphia and University of Pennsylvania, Philadelphia
Clinical Biochemical Genetics - Children’s Hospital of Philadelphia, Philadelphia, PA
Titles and Academic Titles
Departments and Services
Edmondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH. 2017. A human case of SLC35A3-related skeletal dysplasia. Am J Med Genet A. 173:2758-2762.
Edmondson AC, Salant J, Ierardi-Curto LA, Ficicioglu C. 2017. Missed newborn screening case of carnitine palmitoyltransferase-II deficiency. JIMD Rep. 33:93-97.
Long A, Sinkovskya E, Edmondson AC, Zackai E, Schrier-Vergano SA. 2016. Kabuki syndrome as a cause of non-immune fetal hydrops/ascites. Am J Med Genet A. 170:3333-3337.
Ganetzky RD, Bloom K, Ahrens-Nicklas R, Edmondson A, Deardorff MA, Bennett MJ, Ficicioglu C. 2016. ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis. JIMD Rep. 30:33-37.
Khetarpal SA, Schjoldager KT, Christoffersen C, Raghavan A, Edmondson AC, Jamra RA, et al. Plasma lipid-associated candidate gene GALNT2 regulates lipoprotein metabolism in humans, nonhuman primates and rodents. Cell Metab. 24:234-245.
Lin AE, Michot C, Cormier-Daire V, L’Ecuyer TJ, Matherne PG, Barnes BH, Humberson JB, Edmondson AC, et al. 2016. Gain-of-Function Mutations in SMAD4 Cause a Distinctive Repertoire of Cardiovascular Phenotypes in Patients With Myhre Syndrome. Am J Med Genet A. 170A:2617-2631.
Ganetzky R, Izumi K, Edmondson A, Muraresku CC, Zackai E, Deardorff M, Ganesh J. 2015. Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. Am J Med Genet A. 167A:2411-2417.
Edmondson AC and Kalish JM. 2015. Overgrowth Syndromes. J Pediatr Genetics. 04:136-143.
Ahrens-Nicklas RC, Edmondson AC, Ficicioglu C. 2015. An 8-year-old girl with abdominal pain and mental status changes. Pediatr Emerg Car 31:459-462.
Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, et al. 2015. Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nat Genet. 47:338-344.
Strong A, Ding Q, Edmondson AC, Millar JS, Sachs KV, Li X, et al. 2012. Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism. J Clin Invest 122:2807-2816.
Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, et al. 2012 Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet. 8:e1002607.
He J, Li H, Edmondson AC, Rader DJ, Li M. 2012. A Gaussian Copula Approach for the Analysis of Secondary Phenotypes in Case-Control Genetic Association Studies. Biostatistics 13:497-508.
Wang K, Edmondson AC, Li M, Wilensky R, Matthai W, Qasim A, et al. 2011. Pathway-wide association studies implicate multiple sterol transport and metabolism genes in regulating HDL cholesterol levels. Front Applied Genet Epidemiology 2(41):1-12.
Khetarpal SA*, Edmondson AC*, Raghavan A, Neeli H, Jin W, Badellino KO, et al. 2011. Mining the LIPG Allelic Spectrum Reveals the Contribution of Rare and Common Regulatory Variants to HDL Cholesterol. PLoS Genet 7:e1002393.
Edmondson AC, Braund PS, Stylianou IM, Khera AV, Nelson CP, Wolfe ML, et al. 2011. Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol. Circ Cardiovasc Genet 4:145-155.
He J, Wang K, Edmondson AC, Rader DJ, Li C, Li M. 2011. Gene-based Interaction Analysis by Incorporating External Linkage Disequilibrium Information. Eur J Hum Genet 19:164-172.
Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, et al. 2010. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466:707-713.
Brown RJ, Edmondson AC, Griffon N, Hill TB, Fuki IV, Badellino KO, Li M, Wolfe ML, Reilly MP, Rader DJ. 2009. A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis. J Lipid Res 50:1910-1916.
Jensen MK, Rimm EB, Mukamal KJ, Edmondson AC, Rader DJ, Vogel U, Tjonneland A, Sorensen TI, Schmidt EB, Overvad K. 2009. The T111I variant in the endothelial lipase gene and risk of coronary heart disease in three independent populations. Eur Heart J 30:1584-1589.
Edmondson AC, Brown RJ, Kathiresan S, Cupples LA, Demissie S, Manning AK, Jensen MK, Rimm EB, Wang J, Rodrigues A, Bamba V, Khetarpal SA, Wolfe ML, DerOhannessian S, Li M, Reilly MP, Aberle J, Evans D, Hegele RA, Rader DJ. 2009. Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans. J Clin Invest 119:1042-1050.
Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, et al. 2008. Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS ONE 3:e3583.
Edmondson AC and Rader DJ. 2008. Genome-Wide Approaches to Finding Novel Genes for Lipid Traits: the Start of a Long Road. Circ Cardiovasc Genet. 1:3-6.
Edmondson AC, Song DQ, Alvarez LA, Wall MK, Almond D, McClellan DA, Maxwell A, Nielsen BL. 2005. Characterization of a mitochondrially targeted single-stranded DNA-binding protein in Arabidopsis thaliana. Mol. Genet. Genomics 273:115-122.
Khazi FR, Edmondson AC, Nielsen BL. 2003. An Arabidopsis homologue of bacterial RecA that complements an E. coli recA deletion is targeted to plant mitochondria. Mol. Genet. Genomics 269:454-463.
Zackai EH, McDonald-McGinn DM, Bedoukian EC, He M, Deardorff MA, Edmondson AC. Benefits of Bovine Biology: SLC35A3 explains human vertebral anomalies and delineates a new syndrome. Presented at the Annual David S. Smith Workshop on Malformations and Morphogenesis, Lake Arrowhead, California. 2016.
Awards and Honors
2016, Scholarship, Society for Inherited Metabolic Diseases (SIMD) North American Metabolic Academy (NAMA)
2012, George W. Householder, III Memorial Prize for original and meritorious work in the area of basic or clinical cardiovascular research, University of Pennsylvania School of Medicine
2011, Tom Kadesch Prize in Genetic Research, University of Pennsylvania, Department of Genetics
2009, Finalist, Trainee Award in Pre-doctoral–Translational Research, American Society of Human Genetic
2009, Holmes Award for Bench Research, University of Pennsylvania Department of Medicine
2008-2011, National Heart Lung and Blood Institute (F30 Ruth L. Kirschstein National Research Service Award for Individual Predoctoral MD/PhD Fellows)
2008, American Heart Association (AHA) Pre-doctoral Fellowship - Great Rivers Affiliate
2008, Workshop for Clinical Investigators on the Genetics of Complex Disorders, Broad Institute of Harvard and MIT
2004, Magna Cum Laude, Brigham Young University, Provo, UT
Editorial and Academic Positions
2018-present, Journal of Inherited Metabolic Disease, Journal Reviewer
2017-present, American Journal of Medical Genetics, Journal Reviewer
Leadership and Memberships
Memberships in Professional Organizations
2017-present, American Board of Medical Genetics and Genomics, Clinical Genetics and Genomics, Diplomate
2017-present, American Board of Pediatrics, Diplomate
2013-present, American Academy of Pediatrics
Patient Experience Ratings
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